{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q7Z333","secondaryAccessions":["A2A396","B2RPB2","B5ME16","C9JQ10","O75120","Q3KQX4","Q5JUJ1","Q68DW5","Q6AZD7","Q7Z3J6","Q8WX33","Q9H9D1","Q9NVP9"],"uniProtkbId":"SETX_HUMAN","entryAudit":{"firstPublicDate":"2004-06-07","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2010-05-18","entryVersion":199,"sequenceVersion":4},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"36864660"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"value":"Amyotrophic lateral sclerosis 4 protein"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"RNA:DNA and DNA:DNA 5'-3' helicase SETX"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"SEN1 homolog"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14770181"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:445"}],"value":"Senataxin"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14770181"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:445"}],"value":"SETX"},"synonyms":[{"value":"ALS4"},{"value":"KIAA0625"},{"value":"SCAR1"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A2AKX3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17562789"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19515850"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21112256"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21576111"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21700224"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26700805"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}],"value":"ATP-dependent 5'-3' helicase that preferentially unwinds RNA:DNA substrates over DNA:DNA substrates, playing a crucial role in resolving 5'-overhang RNA:DNA hybrids (R-loops) and promoting transcription termination (PubMed:36864660). Plays a role in transcription regulation by its ability to modulate RNA Polymerase II (Pol II) binding to chromatin and through its interaction with proteins involved in transcription (PubMed:19515850, PubMed:21700224). Contributes to the mRNA splicing efficiency and splice site selection (PubMed:19515850). Required for the resolution of R-loop RNA-DNA hybrid formation at G-rich pause sites located downstream of the poly(A) site, allowing XRN2 recruitment and XRN2-mediated degradation of the downstream cleaved RNA and hence efficient RNA polymerase II (RNAp II) transcription termination (PubMed:19515850, PubMed:21700224, PubMed:26700805). Required for the 3' transcriptional termination of PER1 and CRY2, thus playing an important role in the circadian rhythm regulation (By similarity). Involved in DNA double-strand breaks damage response generated by oxidative stress (PubMed:17562789). In association with RRP45, targets the RNA exosome complex to sites of transcription-induced DNA damage (PubMed:24105744). Plays a role in the development and maturation of germ cells: essential for male meiosis, acting at the interface of transcription and meiotic recombination, and in the process of gene silencing during meiotic sex chromosome inactivation (MSCI) (By similarity). May be involved in telomeric stability through the regulation of telomere repeat-containing RNA (TERRA) transcription (PubMed:21112256). Plays a role in neurite outgrowth in hippocampal cells through FGF8-activated signaling pathways. Inhibits retinoic acid-induced apoptosis (PubMed:21576111)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A2AKX3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19515850"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23149945"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26700805"}],"value":"Homodimer (PubMed:24244371). Interacts with PER2; the interaction inhibits termination of circadian target genes (By similarity). Interacts with CHD4, POLR2A, PRKDC and TRIM28 (PubMed:23149945). Interacts with UBE2I (PubMed:24105744). Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation (PubMed:24105744). Interacts with NCL (via N-terminus domain) (PubMed:19515850). Interacts with PABPN1, PABPC1 and SF3B1 (PubMed:19515850). Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A (PubMed:19515850, PubMed:26700805)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q7Z333","intActId":"EBI-1220123"},"interactantTwo":{"uniProtKBAccession":"P24928","geneName":"POLR2A","intActId":"EBI-295301"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z333","intActId":"EBI-1220123"},"interactantTwo":{"uniProtKBAccession":"Q8N6K7-2","geneName":"SAMD3","intActId":"EBI-11528848"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z333","intActId":"EBI-1220123"},"interactantTwo":{"uniProtKBAccession":"Q7Z333","geneName":"SETX","intActId":"EBI-1220123"},"numberOfExperiments":4,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z333","intActId":"EBI-1220123"},"interactantTwo":{"uniProtKBAccession":"Q9GZS3","geneName":"SKIC8","intActId":"EBI-358545"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z333","intActId":"EBI-1220123"},"interactantTwo":{"uniProtKBAccession":"Q16637","geneName":"SMN2","intActId":"EBI-395421"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z333","intActId":"EBI-1220123"},"interactantTwo":{"uniProtKBAccession":"P63279","geneName":"UBE2I","intActId":"EBI-80168"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q7Z333","intActId":"EBI-1220123"},"interactantTwo":{"uniProtKBAccession":"O75604-3","geneName":"USP2","intActId":"EBI-10696113"},"numberOfExperiments":3,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A2AKX3"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17562789"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21112256"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21576111"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23149945"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"}],"value":"May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity). Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256). Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mitotic S/G2- and G1-phase cells in a transcription- and RNA/DNA hybrid-dependent manner (PubMed:23149945). Localizes at limited number of nuclear foci (PubMed:24105744). Colocalizes with EXOSC9 in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17562789"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21576111"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17562789"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17562789"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17562789"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21576111"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23149945"}],"value":"Chromosome","id":"SL-0468"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21112256"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21576111"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21576111"}],"value":"Cell projection, growth cone","id":"SL-0288"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q7Z333-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"3"},"isoformIds":["Q7Z333-3"],"sequenceIds":["VSP_017124"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q7Z333-4"],"sequenceIds":["VSP_028826"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15106121"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16644229"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17562789"}],"value":"Highly expressed in skeletal muscle. Expressed in heart, fibroblast, placenta and liver. Weakly expressed in brain and lung. Expressed in the cortex of the kidney (highly expressed in tubular epithelial cells but low expression in the glomerulus)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23149945"}],"value":"The N-terminus domain is necessary for S/G2 nuclear foci localization (PubMed:23149945)"}],"commentType":"DOMAIN"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24244371"}],"value":"Ubiquitinated"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24244371"}],"value":"Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:24105744, PubMed:24244371)"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2","diseaseAccession":"DI-01061","acronym":"SCAN2","description":"A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN2 is an autosomal recessive form associated with peripheral neuropathy and elevated serum alpha-fetoprotein, immunoglobulins and, less commonly, creatine kinase levels. Some SCAN2 patients manifest oculomotor apraxia.","diseaseCrossReference":{"database":"MIM","id":"606002"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16644229"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16717225"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17096168"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23566282"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23786967"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23941260"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Amyotrophic lateral sclerosis 4","diseaseAccession":"DI-00110","acronym":"ALS4","description":"A form of amyotrophic lateral sclerosis with childhood- or adolescent-onset, and characterized by slow disease progression and the sparing of bulbar and respiratory muscles. Amyotrophic lateral sclerosis is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.","diseaseCrossReference":{"database":"MIM","id":"602433"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15106121"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21190393"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24244371"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAA91701.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"BAB14299.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"CAD97857.1","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":2677,"modifier":"EXACT"}},"description":"Helicase senataxin","featureId":"PRO_0000080724"},{"type":"Domain","location":{"start":{"value":1933,"modifier":"EXACT"},"end":{"value":2254,"modifier":"EXACT"}},"description":"UPF1-type SF1B helicase ATP-binding","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01433"}]},{"type":"Domain","location":{"start":{"value":2255,"modifier":"EXACT"},"end":{"value":2460,"modifier":"EXACT"}},"description":"UPF1-type SF1B helicase C-terminal","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01433"}]},{"type":"Region","location":{"start":{"value":1158,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1237,"modifier":"EXACT"},"end":{"value":1258,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1351,"modifier":"EXACT"},"end":{"value":1385,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1579,"modifier":"EXACT"},"end":{"value":1604,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2474,"modifier":"EXACT"},"end":{"value":2496,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2556,"modifier":"EXACT"},"end":{"value":2577,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2597,"modifier":"EXACT"},"end":{"value":2677,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2661,"modifier":"EXACT"},"end":{"value":2677,"modifier":"EXACT"}},"description":"Necessary for nuclear localization","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16644229"}]},{"type":"Coiled coil","location":{"start":{"value":2105,"modifier":"EXACT"},"end":{"value":2136,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Compositional bias","location":{"start":{"value":1176,"modifier":"EXACT"},"end":{"value":1187,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1188,"modifier":"EXACT"},"end":{"value":1205,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1206,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1354,"modifier":"EXACT"},"end":{"value":1363,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1364,"modifier":"EXACT"},"end":{"value":1375,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2560,"modifier":"EXACT"},"end":{"value":2573,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2628,"modifier":"EXACT"},"end":{"value":2671,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Binding site","location":{"start":{"value":1966,"modifier":"EXACT"},"end":{"value":1971,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU01433"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":2210,"modifier":"EXACT"},"end":{"value":2210,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q92900"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":2258,"modifier":"EXACT"},"end":{"value":2258,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q92900"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Modified residue","location":{"start":{"value":615,"modifier":"EXACT"},"end":{"value":615,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"}]},{"type":"Modified residue","location":{"start":{"value":642,"modifier":"EXACT"},"end":{"value":642,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":878,"modifier":"EXACT"},"end":{"value":878,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A2AKX3"}]},{"type":"Modified residue","location":{"start":{"value":911,"modifier":"EXACT"},"end":{"value":911,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":947,"modifier":"EXACT"},"end":{"value":947,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":956,"modifier":"EXACT"},"end":{"value":956,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":1017,"modifier":"EXACT"},"end":{"value":1017,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17081983"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":1019,"modifier":"EXACT"},"end":{"value":1019,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17081983"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":1330,"modifier":"EXACT"},"end":{"value":1330,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":1366,"modifier":"EXACT"},"end":{"value":1366,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":1489,"modifier":"EXACT"},"end":{"value":1489,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"A2AKX3"}]},{"type":"Modified residue","location":{"start":{"value":1621,"modifier":"EXACT"},"end":{"value":1621,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"16964243"}]},{"type":"Modified residue","location":{"start":{"value":1623,"modifier":"EXACT"},"end":{"value":1623,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":1663,"modifier":"EXACT"},"end":{"value":1663,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":2474,"modifier":"EXACT"},"end":{"value":2474,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Cross-link","location":{"start":{"value":339,"modifier":"EXACT"},"end":{"value":339,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"25114211"}]},{"type":"Cross-link","location":{"start":{"value":894,"modifier":"EXACT"},"end":{"value":894,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Cross-link","location":{"start":{"value":1056,"modifier":"EXACT"},"end":{"value":1056,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Cross-link","location":{"start":{"value":1063,"modifier":"EXACT"},"end":{"value":1063,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"25755297"}]},{"type":"Cross-link","location":{"start":{"value":1340,"modifier":"EXACT"},"end":{"value":1340,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Cross-link","location":{"start":{"value":1341,"modifier":"EXACT"},"end":{"value":1341,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Cross-link","location":{"start":{"value":1415,"modifier":"EXACT"},"end":{"value":1415,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Alternative sequence","location":{"start":{"value":2367,"modifier":"EXACT"},"end":{"value":2399,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_017124","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":2429,"modifier":"EXACT"},"end":{"value":2429,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_028826","alternativeSequence":{"originalSequence":"M","alternativeSequences":["MQLLPRSFCVHVNHSPFFSPEPKYLHWALK"]}},{"type":"Natural variant","location":{"start":{"value":3,"modifier":"EXACT"},"end":{"value":3,"modifier":"EXACT"}},"description":"in ALS4; heterozygous; does not affect the interaction with EXOSC9 and UBE2I; does not decrease sumoylation; dbSNP:rs28941475","featureCrossReferences":[{"database":"dbSNP","id":"rs28941475"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"}],"featureId":"VAR_018776","alternativeSequence":{"originalSequence":"T","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":274,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs997473183","featureCrossReferences":[{"database":"dbSNP","id":"rs997473183"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16717225"}],"featureId":"VAR_036646","alternativeSequence":{"originalSequence":"M","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":274,"modifier":"EXACT"},"end":{"value":274,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs753713810","featureCrossReferences":[{"database":"dbSNP","id":"rs753713810"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23566282"}],"featureId":"VAR_072587","alternativeSequence":{"originalSequence":"M","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":305,"modifier":"EXACT"},"end":{"value":305,"modifier":"EXACT"}},"description":"in SCAN2; abolishes interaction with EXOSC9; does not abolish interaction with UBE2I; decreases sumoylation; dbSNP:rs1564548971","featureCrossReferences":[{"database":"dbSNP","id":"rs1564548971"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"}],"featureId":"VAR_018777","alternativeSequence":{"originalSequence":"W","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":331,"modifier":"EXACT"},"end":{"value":331,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs1422277504","featureCrossReferences":[{"database":"dbSNP","id":"rs1422277504"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23941260"}],"featureId":"VAR_071682","alternativeSequence":{"originalSequence":"I","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":332,"modifier":"EXACT"},"end":{"value":332,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs29001665","featureCrossReferences":[{"database":"dbSNP","id":"rs29001665"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"}],"featureId":"VAR_018778","alternativeSequence":{"originalSequence":"R","alternativeSequences":["W"]}},{"type":"Natural variant","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":389,"modifier":"EXACT"}},"description":"in ALS4; does not affect the interaction with EXOSC9 and UBE2I; does not decrease sumoylation and ubiquitination; does not inhibit homodimerization; unlike the wild-type protein the mutant induces interaction with SLIRP-OT1; dbSNP:rs29001584","featureCrossReferences":[{"database":"dbSNP","id":"rs29001584"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15106121"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24244371"}],"featureId":"VAR_018779","alternativeSequence":{"originalSequence":"L","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":413,"modifier":"EXACT"},"end":{"value":413,"modifier":"EXACT"}},"description":"in SCAN2; abolishes interaction with EXOSC9; does not abolish interaction with UBE2I; decreases sumoylation; dbSNP:rs1564547645","featureCrossReferences":[{"database":"dbSNP","id":"rs1564547645"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"}],"featureId":"VAR_018780","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":496,"modifier":"EXACT"},"end":{"value":496,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs1320071128","featureCrossReferences":[{"database":"dbSNP","id":"rs1320071128"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23941260"}],"featureId":"VAR_071683","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":603,"modifier":"EXACT"},"end":{"value":603,"modifier":"EXACT"}},"description":"in SCAN2; associated in cis with K-653; dbSNP:rs116205032","featureCrossReferences":[{"database":"dbSNP","id":"rs116205032"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17096168"}],"featureId":"VAR_036647","alternativeSequence":{"originalSequence":"N","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":653,"modifier":"EXACT"},"end":{"value":653,"modifier":"EXACT"}},"description":"in SCAN2; associated in cis with D-603; dbSNP:rs116333061","featureCrossReferences":[{"database":"dbSNP","id":"rs116333061"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17096168"}],"featureId":"VAR_036648","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["K"]}},{"type":"Natural variant","location":{"start":{"value":660,"modifier":"EXACT"},"end":{"value":660,"modifier":"EXACT"}},"description":"in dbSNP:rs882709","featureCrossReferences":[{"database":"dbSNP","id":"rs882709"}],"featureId":"VAR_018781","alternativeSequence":{"originalSequence":"A","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":992,"modifier":"EXACT"},"end":{"value":992,"modifier":"EXACT"}},"description":"in dbSNP:rs61742937","featureCrossReferences":[{"database":"dbSNP","id":"rs61742937"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23941260"}],"featureId":"VAR_071684","alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":1061,"modifier":"EXACT"},"end":{"value":1061,"modifier":"EXACT"}},"description":"in dbSNP:rs12352982","featureCrossReferences":[{"database":"dbSNP","id":"rs12352982"}],"featureId":"VAR_018782","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":1152,"modifier":"EXACT"},"end":{"value":1152,"modifier":"EXACT"}},"description":"in dbSNP:rs3739922","featureCrossReferences":[{"database":"dbSNP","id":"rs3739922"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"}],"featureId":"VAR_018783","alternativeSequence":{"originalSequence":"F","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":1192,"modifier":"EXACT"},"end":{"value":1192,"modifier":"EXACT"}},"description":"in dbSNP:rs1185193","featureCrossReferences":[{"database":"dbSNP","id":"rs1185193"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17974005"}],"featureId":"VAR_018784","alternativeSequence":{"originalSequence":"D","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":1221,"modifier":"EXACT"},"end":{"value":1221,"modifier":"EXACT"}},"description":"in dbSNP:rs12344006","featureCrossReferences":[{"database":"dbSNP","id":"rs12344006"}],"featureId":"VAR_056208","alternativeSequence":{"originalSequence":"K","alternativeSequences":["N"]}},{"type":"Natural variant","location":{"start":{"value":1252,"modifier":"EXACT"},"end":{"value":1252,"modifier":"EXACT"}},"description":"in dbSNP:rs1183768","featureCrossReferences":[{"database":"dbSNP","id":"rs1183768"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17974005"}],"featureId":"VAR_018785","alternativeSequence":{"originalSequence":"G","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":1294,"modifier":"EXACT"},"end":{"value":1294,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs267607044","featureCrossReferences":[{"database":"dbSNP","id":"rs267607044"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16717225"}],"featureId":"VAR_036649","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":1331,"modifier":"EXACT"},"end":{"value":1331,"modifier":"EXACT"}},"description":"in dbSNP:rs11243731","featureCrossReferences":[{"database":"dbSNP","id":"rs11243731"}],"featureId":"VAR_018786","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":1386,"modifier":"EXACT"},"end":{"value":1386,"modifier":"EXACT"}},"description":"in dbSNP:rs543573","featureCrossReferences":[{"database":"dbSNP","id":"rs543573"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17974005"}],"featureId":"VAR_018787","alternativeSequence":{"originalSequence":"I","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":1554,"modifier":"EXACT"},"end":{"value":1554,"modifier":"EXACT"}},"description":"in ALS4; likely benign; dbSNP:rs112089123","featureCrossReferences":[{"database":"dbSNP","id":"rs112089123"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21190393"}],"featureId":"VAR_071685","alternativeSequence":{"originalSequence":"C","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":1756,"modifier":"EXACT"},"end":{"value":1756,"modifier":"EXACT"}},"description":"in SCAN2; heterozygous in a British family; dbSNP:rs762175796","featureCrossReferences":[{"database":"dbSNP","id":"rs762175796"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"}],"featureId":"VAR_018788","alternativeSequence":{"originalSequence":"F","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":1855,"modifier":"EXACT"},"end":{"value":1855,"modifier":"EXACT"}},"description":"in dbSNP:rs2296871","featureCrossReferences":[{"database":"dbSNP","id":"rs2296871"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"featureId":"VAR_018789","alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":1855,"modifier":"EXACT"},"end":{"value":1855,"modifier":"EXACT"}},"description":"in dbSNP:rs2296871","featureCrossReferences":[{"database":"dbSNP","id":"rs2296871"}],"featureId":"VAR_059458","alternativeSequence":{"originalSequence":"T","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":1976,"modifier":"EXACT"},"end":{"value":1976,"modifier":"EXACT"}},"description":"in SCAN2; yields insoluble protein; dbSNP:rs121434379","featureCrossReferences":[{"database":"dbSNP","id":"rs121434379"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23566282"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}],"featureId":"VAR_072588","alternativeSequence":{"originalSequence":"L","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":2029,"modifier":"EXACT"},"end":{"value":2029,"modifier":"EXACT"}},"description":"in ALS4; dbSNP:rs746525639","featureCrossReferences":[{"database":"dbSNP","id":"rs746525639"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21190393"}],"featureId":"VAR_071686","alternativeSequence":{"originalSequence":"K","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":2136,"modifier":"EXACT"},"end":{"value":2136,"modifier":"EXACT"}},"description":"in ALS4; no effect on enzyme activity; reduced thermal stability; dbSNP:rs121434378","featureCrossReferences":[{"database":"dbSNP","id":"rs121434378"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15106121"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}],"featureId":"VAR_018790","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":2213,"modifier":"EXACT"},"end":{"value":2213,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs28940290","featureCrossReferences":[{"database":"dbSNP","id":"rs28940290"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14770181"}],"featureId":"VAR_018791","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":2229,"modifier":"EXACT"},"end":{"value":2229,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs1471824334","featureCrossReferences":[{"database":"dbSNP","id":"rs1471824334"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23941260"}],"featureId":"VAR_071687","alternativeSequence":{"originalSequence":"M","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":2368,"modifier":"EXACT"},"end":{"value":2368,"modifier":"EXACT"}},"description":"in SCAN2; dbSNP:rs1420833435","featureCrossReferences":[{"database":"dbSNP","id":"rs1420833435"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16644229"}],"featureId":"VAR_036650","alternativeSequence":{"originalSequence":"P","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":2547,"modifier":"EXACT"},"end":{"value":2547,"modifier":"EXACT"}},"description":"in ALS4; dbSNP:rs151117904","featureCrossReferences":[{"database":"dbSNP","id":"rs151117904"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21190393"}],"featureId":"VAR_071688","alternativeSequence":{"originalSequence":"I","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":2587,"modifier":"EXACT"},"end":{"value":2587,"modifier":"EXACT"}},"description":"in dbSNP:rs1056899","featureCrossReferences":[{"database":"dbSNP","id":"rs1056899"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17974005"}],"featureId":"VAR_018792","alternativeSequence":{"originalSequence":"I","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":2612,"modifier":"EXACT"},"end":{"value":2612,"modifier":"EXACT"}},"description":"in dbSNP:rs3739927","featureCrossReferences":[{"database":"dbSNP","id":"rs3739927"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15489334"}],"featureId":"VAR_018793","alternativeSequence":{"originalSequence":"S","alternativeSequences":["G"]}},{"type":"Mutagenesis","location":{"start":{"value":65,"modifier":"EXACT"},"end":{"value":65,"modifier":"EXACT"}},"description":"Abolishes interaction with EXOSC9 and UBE2I and decreases sumoylation.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24105744"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Mutagenesis","location":{"start":{"value":2181,"modifier":"EXACT"},"end":{"value":2182,"modifier":"EXACT"}},"description":"Loss of ATPase and helicase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}],"alternativeSequence":{"originalSequence":"DE","alternativeSequences":["AA"]}},{"type":"Sequence conflict","location":{"start":{"value":657,"modifier":"EXACT"},"end":{"value":657,"modifier":"EXACT"}},"description":"in Ref. 2; CAD98045","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["S"]}},{"type":"Sequence conflict","location":{"start":{"value":866,"modifier":"EXACT"},"end":{"value":866,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["G"]}},{"type":"Sequence conflict","location":{"start":{"value":894,"modifier":"EXACT"},"end":{"value":894,"modifier":"EXACT"}},"description":"in Ref. 2; CAH18105","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":895,"modifier":"EXACT"},"end":{"value":895,"modifier":"EXACT"}},"description":"in Ref. 2; CAD98045 and 5; BAA31600","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["G"]}},{"type":"Sequence conflict","location":{"start":{"value":977,"modifier":"EXACT"},"end":{"value":977,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"P","alternativeSequences":["T"]}},{"type":"Sequence conflict","location":{"start":{"value":1073,"modifier":"EXACT"},"end":{"value":1073,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"F","alternativeSequences":["C"]}},{"type":"Sequence conflict","location":{"start":{"value":1276,"modifier":"EXACT"},"end":{"value":1276,"modifier":"EXACT"}},"description":"in Ref. 5; BAA31600","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"Q","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":1593,"modifier":"EXACT"},"end":{"value":1593,"modifier":"EXACT"}},"description":"in Ref. 2; CAH18105","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"R","alternativeSequences":["G"]}},{"type":"Sequence conflict","location":{"start":{"value":1626,"modifier":"EXACT"},"end":{"value":1626,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["K"]}},{"type":"Sequence conflict","location":{"start":{"value":1634,"modifier":"EXACT"},"end":{"value":1634,"modifier":"EXACT"}},"description":"in Ref. 2; CAH18105","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"I","alternativeSequences":["V"]}},{"type":"Sequence conflict","location":{"start":{"value":1648,"modifier":"EXACT"},"end":{"value":1650,"modifier":"EXACT"}},"description":"in Ref. 4; AAH32622","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"PVG","alternativeSequences":["TRP"]}},{"type":"Sequence conflict","location":{"start":{"value":1725,"modifier":"EXACT"},"end":{"value":1725,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Sequence conflict","location":{"start":{"value":1826,"modifier":"EXACT"},"end":{"value":1826,"modifier":"EXACT"}},"description":"in Ref. 2; CAD98045 and 4; AAH32600/AAH32622","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"E","alternativeSequences":["K"]}},{"type":"Sequence conflict","location":{"start":{"value":1867,"modifier":"EXACT"},"end":{"value":1867,"modifier":"EXACT"}},"description":"in Ref. 1; AAR13367 and 4; AAH32622","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":2078,"modifier":"EXACT"},"end":{"value":2078,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"Q","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":2324,"modifier":"EXACT"},"end":{"value":2324,"modifier":"EXACT"}},"description":"in Ref. 6; BAB14299","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"M","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":2423,"modifier":"EXACT"},"end":{"value":2423,"modifier":"EXACT"}},"description":"in Ref. 2; CAH18105","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":2458,"modifier":"EXACT"},"end":{"value":2458,"modifier":"EXACT"}},"description":"in Ref. 2; CAH18105","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["G"]}},{"type":"Sequence conflict","location":{"start":{"value":2539,"modifier":"EXACT"},"end":{"value":2539,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Sequence conflict","location":{"start":{"value":2565,"modifier":"EXACT"},"end":{"value":2565,"modifier":"EXACT"}},"description":"in Ref. 2; CAD97857","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"H","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":2577,"modifier":"EXACT"},"end":{"value":2577,"modifier":"EXACT"}},"description":"in Ref. 6; BAB14299","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"F","alternativeSequences":["L"]}}],"keywords":[{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0036","category":"Disease","name":"Amyotrophic lateral sclerosis"},{"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"id":"KW-0238","category":"Molecular function","name":"DNA-binding"},{"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"id":"KW-0523","category":"Disease","name":"Neurodegeneration"},{"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0694","category":"Molecular function","name":"RNA-binding"},{"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"14770181","citationType":"journal article","authors":["Moreira M.-C.","Klur S.","Watanabe M.","Nemeth A.H.","Le Ber I.","Moniz J.-C.","Tranchant C.","Aubourg P.","Tazir M.","Schoels L.","Pandolfo M.","Schulz J.B.","Pouget J.","Calvas P.","Shizuka-Ikeda M.","Shoji M.","Tanaka M.","Izatt L.","Shaw C.E.","M'Zahem A.","Dunne E.","Bomont P.","Benhassine T.","Bouslam N.","Stevanin G.","Brice A.","Guimaraes J.","Mendonca P.","Barbot C.","Coutinho P.","Sequeiros J.","Duerr A.","Warter J.-M.","Koenig M."],"citationCrossReferences":[{"database":"PubMed","id":"14770181"},{"database":"DOI","id":"10.1038/ng1303"}],"title":"Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"225","lastPage":"227","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","TISSUE SPECIFICITY","VARIANT CYS-1152","VARIANTS SCAN2 CYS-305; TRP-332; LEU-413; SER-1756 AND LEU-2213","INVOLVEMENT IN ALS4"]},{"referenceNumber":2,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)","NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 447-2677 (ISOFORM 3)","VARIANTS GLU-1192; ARG-1252; VAL-1386 AND VAL-2587"],"referenceComments":[{"value":"Amygdala","type":"TISSUE"},{"value":"Fetal kidney","type":"TISSUE"},{"value":"Retina","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.S.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.R.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.I.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.M.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":4,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)","VARIANTS GLU-1192; ARG-1252; VAL-1386; ALA-1855; VAL-2587 AND GLY-2612"],"referenceComments":[{"value":"Peripheral nerve","type":"TISSUE"},{"value":"Retinoblastoma","type":"TISSUE"},{"value":"Testis","type":"TISSUE"},{"value":"Uterus","type":"TISSUE"}]},{"referenceNumber":5,"citation":{"id":"9734811","citationType":"journal article","authors":["Ishikawa K.","Nagase T.","Suyama M.","Miyajima N.","Tanaka A.","Kotani H.","Nomura N.","Ohara O."],"citationCrossReferences":[{"database":"PubMed","id":"9734811"},{"database":"DOI","id":"10.1093/dnares/5.3.169"}],"title":"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.","publicationDate":"1998","journal":"DNA Res.","firstPage":"169","lastPage":"176","volume":"5"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 15-2677 (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1762-2677 (ISOFORM 1)","VARIANT VAL-2587"],"referenceComments":[{"value":"Teratocarcinoma","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"17081983","citationType":"journal article","authors":["Olsen J.V.","Blagoev B.","Gnad F.","Macek B.","Kumar C.","Mortensen P.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"17081983"},{"database":"DOI","id":"10.1016/j.cell.2006.09.026"}],"title":"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.","publicationDate":"2006","journal":"Cell","firstPage":"635","lastPage":"648","volume":"127"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":8,"citation":{"id":"16964243","citationType":"journal article","authors":["Beausoleil S.A.","Villen J.","Gerber S.A.","Rush J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"16964243"},{"database":"DOI","id":"10.1038/nbt1240"}],"title":"A probability-based approach for high-throughput protein phosphorylation analysis and site localization.","publicationDate":"2006","journal":"Nat. Biotechnol.","firstPage":"1285","lastPage":"1292","volume":"24"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1621","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":9,"citation":{"id":"17562789","citationType":"journal article","authors":["Suraweera A.","Becherel O.J.","Chen P.","Rundle N.","Woods R.","Nakamura J.","Gatei M.","Criscuolo C.","Filla A.","Chessa L.","Fusser M.","Epe B.","Gueven N.","Lavin M.F."],"citationCrossReferences":[{"database":"PubMed","id":"17562789"},{"database":"DOI","id":"10.1083/jcb.200701042"}],"title":"Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.","publicationDate":"2007","journal":"J. Cell Biol.","firstPage":"969","lastPage":"979","volume":"177"},"referencePositions":["FUNCTION","TISSUE SPECIFICITY","SUBCELLULAR LOCATION"]},{"referenceNumber":10,"citation":{"id":"18669648","citationType":"journal article","authors":["Dephoure N.","Zhou C.","Villen J.","Beausoleil S.A.","Bakalarski C.E.","Elledge S.J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"18669648"},{"database":"DOI","id":"10.1073/pnas.0805139105"}],"title":"A quantitative atlas of mitotic phosphorylation.","publicationDate":"2008","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10762","lastPage":"10767","volume":"105"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-615; SER-1017 AND SER-1019","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":11,"citation":{"id":"19515850","citationType":"journal article","authors":["Suraweera A.","Lim Y.","Woods R.","Birrell G.W.","Nasim T.","Becherel O.J.","Lavin M.F."],"citationCrossReferences":[{"database":"PubMed","id":"19515850"},{"database":"DOI","id":"10.1093/hmg/ddp278"}],"title":"Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.","publicationDate":"2009","journal":"Hum. Mol. Genet.","firstPage":"3384","lastPage":"3396","volume":"18"},"referencePositions":["FUNCTION","INTERACTION WITH NCL; PABPN1; PABPC1; POLR2A; SF3B1 AND SMN1"]},{"referenceNumber":12,"citation":{"id":"19690332","citationType":"journal article","authors":["Mayya V.","Lundgren D.H.","Hwang S.-I.","Rezaul K.","Wu L.","Eng J.K.","Rodionov V.","Han D.K."],"citationCrossReferences":[{"database":"PubMed","id":"19690332"},{"database":"DOI","id":"10.1126/scisignal.2000007"}],"title":"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.","publicationDate":"2009","journal":"Sci. Signal.","firstPage":"RA46","lastPage":"RA46","volume":"2"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]},{"referenceNumber":13,"citation":{"id":"20068231","citationType":"journal article","authors":["Olsen J.V.","Vermeulen M.","Santamaria A.","Kumar C.","Miller M.L.","Jensen L.J.","Gnad F.","Cox J.","Jensen T.S.","Nigg E.A.","Brunak S.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"20068231"},{"database":"DOI","id":"10.1126/scisignal.2000475"}],"title":"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.","publicationDate":"2010","journal":"Sci. Signal.","firstPage":"RA3","lastPage":"RA3","volume":"3"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":14,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Buerckstuemmer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":15,"citation":{"id":"21576111","citationType":"journal article","authors":["Vantaggiato C.","Bondioni S.","Airoldi G.","Bozzato A.","Borsani G.","Rugarli E.I.","Bresolin N.","Clementi E.","Bassi M.T."],"citationCrossReferences":[{"database":"PubMed","id":"21576111"},{"database":"DOI","id":"10.1093/brain/awr084"}],"title":"Senataxin modulates neurite growth through fibroblast growth factor 8 signalling.","publicationDate":"2011","journal":"Brain","firstPage":"1808","lastPage":"1828","volume":"134"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION"]},{"referenceNumber":16,"citation":{"id":"21112256","citationType":"journal article","authors":["De Amicis A.","Piane M.","Ferrari F.","Fanciulli M.","Delia D.","Chessa L."],"citationCrossReferences":[{"database":"PubMed","id":"21112256"},{"database":"DOI","id":"10.1016/j.dnarep.2010.10.012"}],"title":"Role of senataxin in DNA damage and telomeric stability.","publicationDate":"2011","journal":"DNA Repair","firstPage":"199","lastPage":"209","volume":"10"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION"]},{"referenceNumber":17,"citation":{"id":"21700224","citationType":"journal article","authors":["Skourti-Stathaki K.","Proudfoot N.J.","Gromak N."],"citationCrossReferences":[{"database":"PubMed","id":"21700224"},{"database":"DOI","id":"10.1016/j.molcel.2011.04.026"}],"title":"Human senataxin resolves RNA/DNA hybrids formed at transcriptional pause sites to promote Xrn2-dependent termination.","publicationDate":"2011","journal":"Mol. Cell","firstPage":"794","lastPage":"805","volume":"42"},"referencePositions":["FUNCTION"]},{"referenceNumber":18,"citation":{"id":"21406692","citationType":"journal article","authors":["Rigbolt K.T.","Prokhorova T.A.","Akimov V.","Henningsen J.","Johansen P.T.","Kratchmarova I.","Kassem M.","Mann M.","Olsen J.V.","Blagoev B."],"citationCrossReferences":[{"database":"PubMed","id":"21406692"},{"database":"DOI","id":"10.1126/scisignal.2001570"}],"title":"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.","publicationDate":"2011","journal":"Sci. Signal.","firstPage":"RS3","lastPage":"RS3","volume":"4"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":19,"citation":{"id":"24105744","citationType":"journal article","authors":["Richard P.","Feng S.","Manley J.L."],"citationCrossReferences":[{"database":"PubMed","id":"24105744"},{"database":"DOI","id":"10.1101/gad.224923.113"}],"title":"A SUMO-dependent interaction between Senataxin and the exosome, disrupted in the neurodegenerative disease AOA2, targets the exosome to sites of transcription-induced DNA damage.","publicationDate":"2013","journal":"Genes Dev.","firstPage":"2227","lastPage":"2232","volume":"27"},"referencePositions":["FUNCTION","INTERACTION WITH EXOSC9 AND UBE2I","SUMOYLATION","SUBCELLULAR LOCATION","CHARACTERIZATION OF VARIANTS SCAN2 CYS-305 AND LEU-413","CHARACTERIZATION OF VARIANTS ALS4 ILE-3 AND SER-389","MUTAGENESIS OF GLU-65"]},{"referenceNumber":20,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"},{"database":"DOI","id":"10.1021/pr300630k"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-642; SER-911; SER-947; SER-956; SER-1330; SER-1366; SER-1623; SER-1663 AND THR-2474","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":21,"citation":{"id":"23149945","citationType":"journal article","authors":["Yuce O.","West S.C."],"citationCrossReferences":[{"database":"PubMed","id":"23149945"},{"database":"DOI","id":"10.1128/mcb.01195-12"}],"title":"Senataxin, defective in the neurodegenerative disorder ataxia with oculomotor apraxia 2, lies at the interface of transcription and the DNA damage response.","publicationDate":"2013","journal":"Mol. Cell. Biol.","firstPage":"406","lastPage":"417","volume":"33"},"referencePositions":["INTERACTION WITH CHD4; POLR2A; PRKDC AND TRIM28","SUBCELLULAR LOCATION","DOMAIN"]},{"referenceNumber":22,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1017 AND SER-1019","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":23,"citation":{"id":"25114211","citationType":"journal article","authors":["Impens F.","Radoshevich L.","Cossart P.","Ribet D."],"citationCrossReferences":[{"database":"PubMed","id":"25114211"},{"database":"DOI","id":"10.1073/pnas.1413825111"}],"title":"Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.","publicationDate":"2014","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"12432","lastPage":"12437","volume":"111"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-339","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":24,"citation":{"id":"25755297","citationType":"journal article","authors":["Xiao Z.","Chang J.G.","Hendriks I.A.","Sigurdsson J.O.","Olsen J.V.","Vertegaal A.C."],"citationCrossReferences":[{"database":"PubMed","id":"25755297"},{"database":"DOI","id":"10.1074/mcp.o114.044792"}],"title":"System-wide analysis of SUMOylation dynamics in response to replication stress reveals novel small ubiquitin-like modified target proteins and acceptor lysines relevant for genome stability.","publicationDate":"2015","journal":"Mol. Cell. Proteomics","firstPage":"1419","lastPage":"1434","volume":"14"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-1063","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":25,"citation":{"id":"26700805","citationType":"journal article","authors":["Yanling Zhao D.","Gish G.","Braunschweig U.","Li Y.","Ni Z.","Schmitges F.W.","Zhong G.","Liu K.","Li W.","Moffat J.","Vedadi M.","Min J.","Pawson T.J.","Blencowe B.J.","Greenblatt J.F."],"citationCrossReferences":[{"database":"PubMed","id":"26700805"},{"database":"DOI","id":"10.1038/nature16469"}],"title":"SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination.","publicationDate":"2016","journal":"Nature","firstPage":"48","lastPage":"53","volume":"529"},"referencePositions":["FUNCTION","INTERACTION WITH POLR2A AND SMN1"]},{"referenceNumber":26,"citation":{"id":"28112733","citationType":"journal article","authors":["Hendriks I.A.","Lyon D.","Young C.","Jensen L.J.","Vertegaal A.C.","Nielsen M.L."],"citationCrossReferences":[{"database":"PubMed","id":"28112733"},{"database":"DOI","id":"10.1038/nsmb.3366"}],"title":"Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.","publicationDate":"2017","journal":"Nat. Struct. Mol. Biol.","firstPage":"325","lastPage":"336","volume":"24"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-894; LYS-1056; LYS-1340; LYS-1341 AND LYS-1415","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":27,"citation":{"id":"36864660","citationType":"journal article","authors":["Hasanova Z.","Klapstova V.","Porrua O.","Stefl R.","Sebesta M."],"citationCrossReferences":[{"database":"PubMed","id":"36864660"},{"database":"DOI","id":"10.1093/nar/gkad092"}],"title":"Human senataxin is a bona fide R-loop resolving enzyme and transcription termination factor.","publicationDate":"2023","journal":"Nucleic Acids Res.","firstPage":"2818","lastPage":"2837","volume":"51"},"referencePositions":["FUNCTION AS A 5'-3' RNA:DNA HELICASE","FUNCTION AS A 5'-3' DNA HELICASE","CATALYTIC ACTIVITY","MUTAGENESIS OF 2181-ALA--ALA-2182","DNA-BINDING","RNA-BINDING","CHARACTERIZATION OF VARIANT SCAN2 ARG-1976","CHARACTERIZATION OF VARIANT ALS4 HIS-2136"]},{"referenceNumber":28,"citation":{"id":"15106121","citationType":"journal article","authors":["Chen Y.-Z.","Bennett C.L.","Huynh H.M.","Blair I.P.","Puls I.","Irobi J.","Dierick I.","Abel A.","Kennerson M.L.","Rabin B.A.","Nicholson G.A.","Auer-Grumbach M.","Wagner K.","De Jonghe P.","Griffin J.W.","Fischbeck K.H.","Timmerman V.","Cornblath D.R.","Chance P.F."],"citationCrossReferences":[{"database":"PubMed","id":"15106121"},{"database":"DOI","id":"10.1086/421054"}],"title":"DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4).","publicationDate":"2004","journal":"Am. J. Hum. Genet.","firstPage":"1128","lastPage":"1135","volume":"74"},"referencePositions":["VARIANTS ALS4 SER-389 AND HIS-2136","TISSUE SPECIFICITY"]},{"referenceNumber":29,"citation":{"id":"16644229","citationType":"journal article","authors":["Chen Y.-Z.","Hashemi S.H.","Anderson S.K.","Huang Y.","Moreira M.-C.","Lynch D.R.","Glass I.A.","Chance P.F.","Bennett C.L."],"citationCrossReferences":[{"database":"PubMed","id":"16644229"},{"database":"DOI","id":"10.1016/j.nbd.2006.02.007"}],"title":"Senataxin, the yeast Sen1p orthologue: characterization of a unique protein in which recessive mutations cause ataxia and dominant mutations cause motor neuron disease.","publicationDate":"2006","journal":"Neurobiol. Dis.","firstPage":"97","lastPage":"108","volume":"23"},"referencePositions":["VARIANT SCAN2 ARG-2368","SUBCELLULAR LOCATION","TISSUE SPECIFICITY"]},{"referenceNumber":30,"citation":{"id":"16717225","citationType":"journal article","authors":["Asaka T.","Yokoji H.","Ito J.","Yamaguchi K.","Matsushima A."],"citationCrossReferences":[{"database":"PubMed","id":"16717225"},{"database":"DOI","id":"10.1212/01.wnl.0000216135.59699.9b"}],"title":"Autosomal recessive ataxia with peripheral neuropathy and elevated AFP: novel mutations in SETX.","publicationDate":"2006","journal":"Neurology","firstPage":"1580","lastPage":"1581","volume":"66"},"referencePositions":["VARIANTS SCAN2 ILE-274 AND CYS-1294"]},{"referenceNumber":31,"citation":{"id":"17096168","citationType":"journal article","authors":["Bassuk A.G.","Chen Y.Z.","Batish S.D.","Nagan N.","Opal P.","Chance P.F.","Bennett C.L."],"citationCrossReferences":[{"database":"PubMed","id":"17096168"},{"database":"DOI","id":"10.1007/s10048-006-0067-8"}],"title":"In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome.","publicationDate":"2007","journal":"Neurogenetics","firstPage":"45","lastPage":"49","volume":"8"},"referencePositions":["VARIANTS SCAN2 ASP-603 AND LYS-653"]},{"referenceNumber":32,"citation":{"id":"21190393","citationType":"journal article","authors":["Hirano M.","Quinzii C.M.","Mitsumoto H.","Hays A.P.","Roberts J.K.","Richard P.","Rowland L.P."],"citationCrossReferences":[{"database":"PubMed","id":"21190393"},{"database":"DOI","id":"10.3109/17482968.2010.545952"}],"title":"Senataxin mutations and amyotrophic lateral sclerosis.","publicationDate":"2011","journal":"Amyotroph. Lateral Scler.","firstPage":"223","lastPage":"227","volume":"12"},"referencePositions":["VARIANTS ALS4 GLY-1554; GLU-2029 AND THR-2547"]},{"referenceNumber":33,"citation":{"id":"23566282","citationType":"journal article","authors":["Datta N.","Hohler A."],"citationCrossReferences":[{"database":"PubMed","id":"23566282"},{"database":"DOI","id":"10.3109/00207454.2013.787616"}],"title":"A new SETX mutation producing AOA2 in two siblings.","publicationDate":"2013","journal":"Int. J. Neurosci.","firstPage":"670","lastPage":"673","volume":"123"},"referencePositions":["VARIANTS SCAN2 VAL-274 AND ARG-1976"]},{"referenceNumber":34,"citation":{"id":"23786967","citationType":"journal article","authors":["Ichikawa Y.","Ishiura H.","Mitsui J.","Takahashi Y.","Kobayashi S.","Takuma H.","Kanazawa I.","Doi K.","Yoshimura J.","Morishita S.","Goto J.","Tsuji S."],"citationCrossReferences":[{"database":"PubMed","id":"23786967"},{"database":"DOI","id":"10.1016/j.jns.2013.05.018"}],"title":"Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.","publicationDate":"2013","journal":"J. Neurol. Sci.","firstPage":"158","lastPage":"160","volume":"331"},"referencePositions":["INVOLVEMENT IN SCAN2"]},{"referenceNumber":35,"citation":{"id":"23941260","citationType":"journal article","authors":["Nanetti L.","Cavalieri S.","Pensato V.","Erbetta A.","Pareyson D.","Panzeri M.","Zorzi G.","Antozzi C.","Moroni I.","Gellera C.","Brusco A.","Mariotti C."],"citationCrossReferences":[{"database":"PubMed","id":"23941260"},{"database":"DOI","id":"10.1186/1750-1172-8-123"}],"title":"SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.","publicationDate":"2013","journal":"Orphanet J. Rare Dis.","firstPage":"123","lastPage":"123","volume":"8"},"referencePositions":["VARIANTS SCAN2 LYS-331; LEU-496 AND THR-2229","VARIANT ARG-992"]},{"referenceNumber":36,"citation":{"id":"24244371","citationType":"journal article","authors":["Bennett C.L.","Chen Y.","Vignali M.","Lo R.S.","Mason A.G.","Unal A.","Huq Saifee N.P.","Fields S.","La Spada A.R."],"citationCrossReferences":[{"database":"PubMed","id":"24244371"},{"database":"DOI","id":"10.1371/journal.pone.0078837"}],"title":"Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.","publicationDate":"2013","journal":"PLoS ONE","firstPage":"E78837","lastPage":"E78837","volume":"8"},"referencePositions":["VARIANT SER-389","CHARACTERIZATION OF VARIANT ALS4 SER-389","SUBUNIT","UBIQUITINATION","SUMOYLATION"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AY362728","properties":[{"key":"ProteinId","value":"AAR13367.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BX537849","properties":[{"key":"ProteinId","value":"CAD97857.1"},{"key":"Status","value":"ALT_FRAME"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BX538166","properties":[{"key":"ProteinId","value":"CAD98045.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"CR749249","properties":[{"key":"ProteinId","value":"CAH18105.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC032600","properties":[{"key":"ProteinId","value":"AAH32600.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC032622","properties":[{"key":"ProteinId","value":"AAH32622.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC078166","properties":[{"key":"ProteinId","value":"AAH78166.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC106017","properties":[{"key":"ProteinId","value":"AAI06018.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC137350","properties":[{"key":"ProteinId","value":"AAI37351.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB014525","properties":[{"key":"ProteinId","value":"BAA31600.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK001456","properties":[{"key":"ProteinId","value":"BAA91701.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK022902","properties":[{"key":"ProteinId","value":"BAB14299.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS6947.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q7Z333-1"},{"database":"RefSeq","id":"NP_001338456.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001351527.2"}],"isoformId":"Q7Z333-1"},{"database":"RefSeq","id":"NP_001338457.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001351528.2"}],"isoformId":"Q7Z333-4"},{"database":"RefSeq","id":"NP_055861.3","properties":[{"key":"NucleotideSequenceId","value":"NM_015046.7"}],"isoformId":"Q7Z333-1"},{"database":"RefSeq","id":"XP_005272229.1","properties":[{"key":"NucleotideSequenceId","value":"XM_005272172.4"}],"isoformId":"Q7Z333-4"},{"database":"RefSeq","id":"XP_005272230.1","properties":[{"key":"NucleotideSequenceId","value":"XM_005272173.4"}],"isoformId":"Q7Z333-4"},{"database":"RefSeq","id":"XP_011516706.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011518404.4"}],"isoformId":"Q7Z333-4"},{"database":"RefSeq","id":"XP_011516707.1","properties":[{"key":"NucleotideSequenceId","value":"XM_011518405.4"}],"isoformId":"Q7Z333-4"},{"database":"RefSeq","id":"XP_047278979.1","properties":[{"key":"NucleotideSequenceId","value":"XM_047423023.1"}],"isoformId":"Q7Z333-1"},{"database":"AlphaFoldDB","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"116699","properties":[{"key":"Interactions","value":"217"}]},{"database":"DIP","id":"DIP-38360N","properties":[{"key":"Description","value":"-"}]},{"database":"ELM","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"Q7Z333","properties":[{"key":"Number of interactors","value":"2760"}]},{"database":"IntAct","id":"Q7Z333","properties":[{"key":"Interactions","value":"160"}]},{"database":"MINT","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-SETX","properties":[{"key":"Evidences","value":"2 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000224140","properties":[{"key":"Description","value":"-"}]},{"database":"GlyCosmos","id":"Q7Z333","properties":[{"key":"glycosylation","value":"1 site, 1 glycan"}]},{"database":"GlyGen","id":"Q7Z333","properties":[{"key":"glycosylation","value":"4 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (2 sites)"}]},{"database":"iPTMnet","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"SETX","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"296453021","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000224140","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"69001","properties":[{"key":"Description","value":"-"}],"isoformId":"Q7Z333-1"},{"database":"ProteomicsDB","id":"69002","properties":[{"key":"Description","value":"-"}],"isoformId":"Q7Z333-3"},{"database":"ProteomicsDB","id":"69003","properties":[{"key":"Description","value":"-"}],"isoformId":"Q7Z333-4"},{"database":"Pumba","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"31672","properties":[{"key":"antibodies","value":"366 antibodies from 23 providers"}]},{"database":"DNASU","id":"23064","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000224140.6","properties":[{"key":"ProteinId","value":"ENSP00000224140.5"},{"key":"GeneId","value":"ENSG00000107290.15"}],"isoformId":"Q7Z333-1"},{"database":"Ensembl","id":"ENST00000905306.1","properties":[{"key":"ProteinId","value":"ENSP00000575365.1"},{"key":"GeneId","value":"ENSG00000107290.15"}],"isoformId":"Q7Z333-1"},{"database":"Ensembl","id":"ENST00000923215.1","properties":[{"key":"ProteinId","value":"ENSP00000593274.1"},{"key":"GeneId","value":"ENSG00000107290.15"}],"isoformId":"Q7Z333-1"},{"database":"GeneID","id":"23064","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:23064","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000224140.6","properties":[{"key":"ProteinId","value":"ENSP00000224140.5"},{"key":"RefSeqNucleotideId","value":"NM_015046.7"},{"key":"RefSeqProteinId","value":"NP_055861.3"}]},{"database":"UCSC","id":"uc004cbk.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q7Z333-1"},{"database":"AGR","id":"HGNC:445","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA24751","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"23064","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"23064","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"SETX","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"SETX","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"HPA","id":"ENSG00000107290","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"SETX","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"602433","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"606002","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"608465","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"357043","properties":[{"key":"Disease","value":"Amyotrophic lateral sclerosis type 4"}]},{"database":"Orphanet","id":"64753","properties":[{"key":"Disease","value":"Spinocerebellar ataxia with axonal neuropathy type 2"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG1801","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_000967_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"NIFFPLM","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"6513042at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q7Z333","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000107290","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"23064","properties":[{"key":"hits","value":"23 hits in 1160 CRISPR screens"}]},{"database":"ChiTaRS","id":"SETX","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GeneWiki","id":"SETX","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"23064","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q7Z333","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q7Z333","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"RNAct","id":"Q7Z333","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000107290","properties":[{"key":"ExpressionPatterns","value":"Expressed in right testis and 186 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q7Z333","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0030424","properties":[{"key":"GoTerm","value":"C:axon"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21576111"}]},{"database":"GO","id":"GO:0005694","properties":[{"key":"GoTerm","value":"C:chromosome"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23149945"}]},{"database":"GO","id":"GO:0000781","properties":[{"key":"GoTerm","value":"C:chromosome, telomeric region"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17562789"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21576111"}]},{"database":"GO","id":"GO:0030426","properties":[{"key":"GoTerm","value":"C:growth cone"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21576111"}]},{"database":"GO","id":"GO:0000228","properties":[{"key":"GoTerm","value":"C:nuclear chromosome"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"24105744"}]},{"database":"GO","id":"GO:0005730","properties":[{"key":"GoTerm","value":"C:nucleolus"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17562789"},{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21576111"}]},{"database":"GO","id":"GO:0043139","properties":[{"key":"GoTerm","value":"F:5'-3' DNA helicase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"36864660"}]},{"database":"GO","id":"GO:0033678","properties":[{"key":"GoTerm","value":"F:5'-3' DNA/RNA helicase activity"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"36864660"}]},{"database":"GO","id":"GO:0016887","properties":[{"key":"GoTerm","value":"F:ATP hydrolysis activity"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36864660"}]},{"database":"GO","id":"GO:0003677","properties":[{"key":"GoTerm","value":"F:DNA binding"},{"key":"GoEvidenceType","value":"IC:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000305","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0003678","properties":[{"key":"GoTerm","value":"F:DNA helicase activity"},{"key":"GoEvidenceType","value":"TAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0033677","properties":[{"key":"GoTerm","value":"F:DNA/RNA helicase activity"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"36864660"}]},{"database":"GO","id":"GO:0042802","properties":[{"key":"GoTerm","value":"F:identical protein binding"},{"key":"GoEvidenceType","value":"IPI:IntAct"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"24244371"}]},{"database":"GO","id":"GO:0001147","properties":[{"key":"GoTerm","value":"F:transcription termination site sequence-specific DNA binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21700224"}]},{"database":"GO","id":"GO:0070301","properties":[{"key":"GoTerm","value":"P:cellular response to hydrogen peroxide"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0034599","properties":[{"key":"GoTerm","value":"P:cellular response to oxidative stress"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0006974","properties":[{"key":"GoTerm","value":"P:DNA damage response"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0006353","properties":[{"key":"GoTerm","value":"P:DNA-templated transcription termination"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"36864660"}]},{"database":"GO","id":"GO:0006302","properties":[{"key":"GoTerm","value":"P:double-strand break repair"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0006376","properties":[{"key":"GoTerm","value":"P:mRNA splice site recognition"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19515850"}]},{"database":"GO","id":"GO:2000144","properties":[{"key":"GoTerm","value":"P:positive regulation of DNA-templated transcription initiation"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"21700224"}]},{"database":"GO","id":"GO:0010976","properties":[{"key":"GoTerm","value":"P:positive regulation of neuron projection development"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"21576111"}]},{"database":"GO","id":"GO:0033120","properties":[{"key":"GoTerm","value":"P:positive regulation of RNA splicing"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19515850"}]},{"database":"GO","id":"GO:0060566","properties":[{"key":"GoTerm","value":"P:positive regulation of termination of DNA-templated transcription"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19515850"}]},{"database":"GO","id":"GO:2000806","properties":[{"key":"GoTerm","value":"P:positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"21700224"}]},{"database":"GO","id":"GO:0045944","properties":[{"key":"GoTerm","value":"P:positive regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"19515850"}]},{"database":"GO","id":"GO:0006396","properties":[{"key":"GoTerm","value":"P:RNA processing"},{"key":"GoEvidenceType","value":"TAS:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"17562789"}]},{"database":"GO","id":"GO:0006369","properties":[{"key":"GoTerm","value":"P:termination of RNA polymerase II transcription"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS52088","properties":[{"key":"EntryName","value":"UPF1_HELICASE"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYNPEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMDLKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWVSSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIRSLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAPPCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKADNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISSYTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKTKVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHNLSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFTEMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDRDLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSDDDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQCFEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEEHTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKSIDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYLSCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVVDTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHTAQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLNQCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQNDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKNQGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSALSPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESKYFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNYGDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELAKQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":2677,"molWeight":302880,"crc64":"552FFE4A23A83868","md5":"9D718C030FA67CE072A8D98D7440B411"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"INTERACTION":7,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"TISSUE SPECIFICITY":1,"DOMAIN":1,"PTM":2,"DISEASE":2,"SIMILARITY":1,"SEQUENCE CAUTION":3},"countByFeatureType":{"Chain":1,"Domain":2,"Region":8,"Coiled coil":1,"Compositional bias":7,"Binding site":3,"Modified residue":15,"Cross-link":7,"Alternative sequence":2,"Natural variant":34,"Mutagenesis":2,"Sequence conflict":21},"uniParcId":"UPI0000210D28"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"X6RI79","uniProtkbId":"X6RI79_HUMAN","entryAudit":{"firstPublicDate":"2014-06-11","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2014-06-11","entryVersion":75,"sequenceVersion":1},"annotationScore":4.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000409143.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000409143.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":176,"modifier":"EXACT"},"end":{"value":459,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":468,"modifier":"EXACT"},"end":{"value":666,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":745,"modifier":"EXACT"},"end":{"value":767,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":827,"modifier":"EXACT"},"end":{"value":848,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":868,"modifier":"EXACT"},"end":{"value":948,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":351,"modifier":"EXACT"},"end":{"value":378,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":831,"modifier":"EXACT"},"end":{"value":844,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":899,"modifier":"EXACT"},"end":{"value":942,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000409143.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"X6RI79"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"X6RI79"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000409143.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000409143.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000409143.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Burckstummer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"evidences":[{"evidenceCode":"ECO:0007829","source":"PubMed","id":"21269460"}]},{"referenceNumber":5,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"evidences":[{"evidenceCode":"ECO:0007829","source":"PubMed","id":"23186163"}]},{"referenceNumber":6,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000409143.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"X6RI79","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"X6RI79","properties":[{"key":"Description","value":"-"}]},{"database":"iPTMnet","id":"X6RI79","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"X6RI79","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"31672","properties":[{"key":"antibodies","value":"366 antibodies from 23 providers"}]},{"database":"Ensembl","id":"ENST00000436441.5","properties":[{"key":"ProteinId","value":"ENSP00000409143.1"},{"key":"GeneId","value":"ENSG00000107290.15"}]},{"database":"UCSC","id":"uc064wsa.1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_017379_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"6513042at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"SETX","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"Bgee","id":"ENSG00000107290","properties":[{"key":"ExpressionPatterns","value":"Expressed in right testis and 186 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"X6RI79","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0000781","properties":[{"key":"GoTerm","value":"C:chromosome, telomeric region"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0030426","properties":[{"key":"GoTerm","value":"C:growth cone"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005730","properties":[{"key":"GoTerm","value":"C:nucleolus"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0003678","properties":[{"key":"GoTerm","value":"F:DNA helicase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0003724","properties":[{"key":"GoTerm","value":"F:RNA helicase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0006353","properties":[{"key":"GoTerm","value":"P:DNA-templated transcription termination"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"VAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELAKQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGFLASLQRLNVTITRAKYSLFILGHLRTLMQLLPRSFCVHVNHSPFFSPEPKYLHWALKENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":948,"molWeight":107931,"crc64":"B1AF8C3624D4AEC1","md5":"DA7B2734ACB59A3F1C4006D05375C97B"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":2,"Region":3,"Coiled coil":1,"Compositional bias":2,"Non-terminal residue":1},"uniParcId":"UPI00004A3A5D"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A0S2Z520","uniProtkbId":"A0A0S2Z520_HUMAN","entryAudit":{"firstPublicDate":"2016-02-17","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2016-02-17","entryVersion":36,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34018.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"2: Evidence at transcript level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34018.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":85,"modifier":"EXACT"},"end":{"value":368,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":588,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":638,"modifier":"EXACT"},"end":{"value":660,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":720,"modifier":"EXACT"},"end":{"value":741,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":761,"modifier":"EXACT"},"end":{"value":841,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":724,"modifier":"EXACT"},"end":{"value":737,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":792,"modifier":"EXACT"},"end":{"value":835,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":841,"modifier":"EXACT"},"end":{"value":841,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34018.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"26871637","citationType":"journal article","authors":["Yang X.","Coulombe-Huntington J.","Kang S.","Sheynkman G.M.","Hao T.","Richardson A.","Sun S.","Yang F.","Shen Y.A.","Murray R.","Spirohn K.","Begg B.E.","Duran-Frigola M.","MacWilliams A.","Pevzner S.J.","Zhong Q.","Trigg S.A.","Tam S.","Ghamsari L.","Sahni N.","Yi S.","Rodriguez M.D.","Balcha D.","Tan G.","Costanzo M.","Andrews B.","Boone C.","Zhou X.J.","Salehi-Ashtiani K.","Charloteaux B.","Chen A.","Calderwood M.A.","Aloy P.","Roth F.P.","Hill D.E.","Iakoucheva L.M.","Xia Y.","Vidal M."],"citationCrossReferences":[{"database":"PubMed","id":"26871637"},{"database":"DOI","id":"10.1016/j.cell.2016.01.029"}],"title":"Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.","publicationDate":"2016","journal":"Cell","firstPage":"805","lastPage":"817","volume":"164"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34018.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"KU178560","properties":[{"key":"ProteinId","value":"ALQ34018.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"AlphaFoldDB","id":"A0A0S2Z520","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"A0A0S2Z520","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"6513042at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"SETX","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GO","id":"GO:0000781","properties":[{"key":"GoTerm","value":"C:chromosome, telomeric region"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0030426","properties":[{"key":"GoTerm","value":"C:growth cone"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005730","properties":[{"key":"GoTerm","value":"C:nucleolus"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0003678","properties":[{"key":"GoTerm","value":"F:DNA helicase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0003724","properties":[{"key":"GoTerm","value":"F:RNA helicase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0006353","properties":[{"key":"GoTerm","value":"P:DNA-templated transcription termination"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGNSSVPGTLYWDGEFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":841,"molWeight":94723,"crc64":"C3089A9360504D90","md5":"691EC067031886E1AD4C132BFBB60E97"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":2,"Region":3,"Coiled coil":1,"Compositional bias":2,"Non-terminal residue":1},"uniParcId":"UPI000721155F"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8T5N9","uniProtkbId":"A0ACI8T5N9_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593276.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593276.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":1934,"modifier":"EXACT"},"end":{"value":2217,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":2226,"modifier":"EXACT"},"end":{"value":2437,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":1158,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1237,"modifier":"EXACT"},"end":{"value":1258,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1270,"modifier":"EXACT"},"end":{"value":1294,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1352,"modifier":"EXACT"},"end":{"value":1385,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1579,"modifier":"EXACT"},"end":{"value":1604,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2487,"modifier":"EXACT"},"end":{"value":2509,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2569,"modifier":"EXACT"},"end":{"value":2590,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2610,"modifier":"EXACT"},"end":{"value":2690,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":2109,"modifier":"EXACT"},"end":{"value":2136,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":1176,"modifier":"EXACT"},"end":{"value":1187,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1188,"modifier":"EXACT"},"end":{"value":1205,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1206,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1354,"modifier":"EXACT"},"end":{"value":1363,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1364,"modifier":"EXACT"},"end":{"value":1375,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2573,"modifier":"EXACT"},"end":{"value":2586,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2641,"modifier":"EXACT"},"end":{"value":2684,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8T5N9"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8T5N9"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593276.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593276.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593276.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593276.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000923217.1","properties":[{"key":"ProteinId","value":"ENSP00000593276.1"},{"key":"GeneId","value":"ENSG00000107290.15"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"OpenTargets","id":"ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYNPEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMDLKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWVSSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIRSLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAPPCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKADNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISSYTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKTKVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHNLSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFTEMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDRDLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSDDDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQCFEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEEHTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKSIDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYLSCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVVDTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHTAQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLNQCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQNDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKNQGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSALSPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESKYFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNYGDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELAKQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGNSSVPGTLYWDGEFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":2690,"molWeight":304286,"crc64":"D56D3B908D9F5AA2","md5":"991962F32881C67A8B95037699629149"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":2,"Region":8,"Coiled coil":1,"Compositional bias":7},"uniParcId":"UPI0040317522"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8T6B1","uniProtkbId":"A0ACI8T6B1_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593278.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593278.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":1912,"modifier":"EXACT"},"end":{"value":2195,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":2204,"modifier":"EXACT"},"end":{"value":2415,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":1158,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1237,"modifier":"EXACT"},"end":{"value":1258,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1352,"modifier":"EXACT"},"end":{"value":1385,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1578,"modifier":"EXACT"},"end":{"value":1604,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2465,"modifier":"EXACT"},"end":{"value":2487,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2547,"modifier":"EXACT"},"end":{"value":2568,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2588,"modifier":"EXACT"},"end":{"value":2668,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":2087,"modifier":"EXACT"},"end":{"value":2114,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":1176,"modifier":"EXACT"},"end":{"value":1187,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1188,"modifier":"EXACT"},"end":{"value":1205,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1206,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1354,"modifier":"EXACT"},"end":{"value":1363,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1364,"modifier":"EXACT"},"end":{"value":1375,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2551,"modifier":"EXACT"},"end":{"value":2564,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2619,"modifier":"EXACT"},"end":{"value":2662,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8T6B1"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8T6B1"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593278.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593278.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593278.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593278.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000923219.1","properties":[{"key":"ProteinId","value":"ENSP00000593278.1"},{"key":"GeneId","value":"ENSG00000107290.15"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"OpenTargets","id":"ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYNPEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMDLKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWVSSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIRSLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAPPCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKADNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISSYTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKTKVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHNLSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFTEMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDRDLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSDDDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQCFEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEEHTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKSIDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYLSCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVVDTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHTAQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLNQCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQNDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKNQGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSALSPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESKYFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNYGDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGNSSVPGTLYWDGEFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":2668,"molWeight":301647,"crc64":"D041C66F97646D4A","md5":"E6CEF7D027060402D6D53F387D6A0DB0"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":2,"Region":7,"Coiled coil":1,"Compositional bias":7},"uniParcId":"UPI004032664B"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8T5J8","uniProtkbId":"A0ACI8T5J8_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593275.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593275.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":1934,"modifier":"EXACT"},"end":{"value":2217,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":2226,"modifier":"EXACT"},"end":{"value":2437,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":1158,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1237,"modifier":"EXACT"},"end":{"value":1258,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1270,"modifier":"EXACT"},"end":{"value":1294,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1352,"modifier":"EXACT"},"end":{"value":1385,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1579,"modifier":"EXACT"},"end":{"value":1604,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2516,"modifier":"EXACT"},"end":{"value":2538,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2598,"modifier":"EXACT"},"end":{"value":2619,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2639,"modifier":"EXACT"},"end":{"value":2719,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":2109,"modifier":"EXACT"},"end":{"value":2136,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":1176,"modifier":"EXACT"},"end":{"value":1187,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1188,"modifier":"EXACT"},"end":{"value":1205,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1206,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1354,"modifier":"EXACT"},"end":{"value":1363,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1364,"modifier":"EXACT"},"end":{"value":1375,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2602,"modifier":"EXACT"},"end":{"value":2615,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2670,"modifier":"EXACT"},"end":{"value":2713,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8T5J8"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8T5J8"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593275.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593275.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593275.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593275.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000923216.1","properties":[{"key":"ProteinId","value":"ENSP00000593275.1"},{"key":"GeneId","value":"ENSG00000107290.15"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"OpenTargets","id":"ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYNPEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMDLKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWVSSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIRSLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAPPCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKADNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISSYTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKTKVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHNLSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFTEMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDRDLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSDDDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQCFEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEEHTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKSIDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYLSCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVVDTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHTAQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLNQCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQNDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKNQGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSALSPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESKYFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNYGDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELAKQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGNSSVPGTLYWDGEFLASLQRLNVTITRAKYSLFILGHLRTLMQLLPRSFCVHVNHSPFFSPEPKYLHWALKENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":2719,"molWeight":307747,"crc64":"75723A1241C8A2D1","md5":"4892618A4F593F8DD06F7A53D80F47C0"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":2,"Region":8,"Coiled coil":1,"Compositional bias":7},"uniParcId":"UPI0040321998"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A0S2Z550","uniProtkbId":"A0A0S2Z550_HUMAN","entryAudit":{"firstPublicDate":"2016-02-17","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2016-02-17","entryVersion":48,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34017.1"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"2: Evidence at transcript level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34017.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":85,"modifier":"EXACT"},"end":{"value":368,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":377,"modifier":"EXACT"},"end":{"value":575,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":625,"modifier":"EXACT"},"end":{"value":647,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":707,"modifier":"EXACT"},"end":{"value":728,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":748,"modifier":"EXACT"},"end":{"value":828,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":287,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":711,"modifier":"EXACT"},"end":{"value":724,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":779,"modifier":"EXACT"},"end":{"value":822,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":828,"modifier":"EXACT"},"end":{"value":828,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34017.1"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"26871637","citationType":"journal article","authors":["Yang X.","Coulombe-Huntington J.","Kang S.","Sheynkman G.M.","Hao T.","Richardson A.","Sun S.","Yang F.","Shen Y.A.","Murray R.","Spirohn K.","Begg B.E.","Duran-Frigola M.","MacWilliams A.","Pevzner S.J.","Zhong Q.","Trigg S.A.","Tam S.","Ghamsari L.","Sahni N.","Yi S.","Rodriguez M.D.","Balcha D.","Tan G.","Costanzo M.","Andrews B.","Boone C.","Zhou X.J.","Salehi-Ashtiani K.","Charloteaux B.","Chen A.","Calderwood M.A.","Aloy P.","Roth F.P.","Hill D.E.","Iakoucheva L.M.","Xia Y.","Vidal M."],"citationCrossReferences":[{"database":"PubMed","id":"26871637"},{"database":"DOI","id":"10.1016/j.cell.2016.01.029"}],"title":"Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.","publicationDate":"2016","journal":"Cell","firstPage":"805","lastPage":"817","volume":"164"},"referencePositions":["NUCLEOTIDE SEQUENCE"],"evidences":[{"evidenceCode":"ECO:0000313","source":"EMBL","id":"ALQ34017.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"KU178559","properties":[{"key":"ProteinId","value":"ALQ34017.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"AlphaFoldDB","id":"A0A0S2Z550","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"A0A0S2Z550","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"6513042at2759","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID-ORCS","id":"23064","properties":[{"key":"hits","value":"23 hits in 1160 CRISPR screens"}]},{"database":"ChiTaRS","id":"SETX","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GO","id":"GO:0000781","properties":[{"key":"GoTerm","value":"C:chromosome, telomeric region"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0030426","properties":[{"key":"GoTerm","value":"C:growth cone"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005730","properties":[{"key":"GoTerm","value":"C:nucleolus"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-SubCell"}]},{"database":"GO","id":"GO:0003678","properties":[{"key":"GoTerm","value":"F:DNA helicase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0003724","properties":[{"key":"GoTerm","value":"F:RNA helicase activity"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-EC"}]},{"database":"GO","id":"GO:0006353","properties":[{"key":"GoTerm","value":"P:DNA-templated transcription termination"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-ARBA"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":828,"molWeight":93316,"crc64":"CAC902297F0EA129","md5":"C196FC3894DEDDC6AEF9BC2BF60CE03B"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":2,"Region":3,"Coiled coil":1,"Compositional bias":2,"Non-terminal residue":1},"uniParcId":"UPI000006DD82"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8T6A0","uniProtkbId":"A0ACI8T6A0_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593277.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593277.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":35,"modifier":"EXACT"},"end":{"value":335,"modifier":"EXACT"}},"description":"Helicase Sen1 N-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF12726"}]},{"type":"Domain","location":{"start":{"value":607,"modifier":"EXACT"},"end":{"value":890,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":899,"modifier":"EXACT"},"end":{"value":1097,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":1147,"modifier":"EXACT"},"end":{"value":1169,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1229,"modifier":"EXACT"},"end":{"value":1250,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1270,"modifier":"EXACT"},"end":{"value":1350,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":782,"modifier":"EXACT"},"end":{"value":809,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":1233,"modifier":"EXACT"},"end":{"value":1246,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1301,"modifier":"EXACT"},"end":{"value":1344,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8T6A0"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8T6A0"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593277.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593277.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593277.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000593277.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000923218.1","properties":[{"key":"ProteinId","value":"ENSP00000593277.1"},{"key":"GeneId","value":"ENSG00000107290.15"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"OpenTargets","id":"ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR024481","properties":[{"key":"EntryName","value":"Helicase_Sen1_N"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF12726","properties":[{"key":"EntryName","value":"SEN1_N"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYNPEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMDLKDLGVAYIAQVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELAKQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":1350,"molWeight":154437,"crc64":"C3C35BB45CF04A11","md5":"A331B836244B17B0BA77E6570F284E11"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":3,"Region":3,"Coiled coil":1,"Compositional bias":2},"uniParcId":"UPI004031A2B5"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8UF96","uniProtkbId":"A0ACI8UF96_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000617453.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000617453.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":1912,"modifier":"EXACT"},"end":{"value":2195,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":2204,"modifier":"EXACT"},"end":{"value":2402,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":1158,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1237,"modifier":"EXACT"},"end":{"value":1258,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1270,"modifier":"EXACT"},"end":{"value":1294,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1352,"modifier":"EXACT"},"end":{"value":1385,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1578,"modifier":"EXACT"},"end":{"value":1604,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2452,"modifier":"EXACT"},"end":{"value":2474,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2534,"modifier":"EXACT"},"end":{"value":2555,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":2575,"modifier":"EXACT"},"end":{"value":2655,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":2087,"modifier":"EXACT"},"end":{"value":2114,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":1176,"modifier":"EXACT"},"end":{"value":1187,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1188,"modifier":"EXACT"},"end":{"value":1205,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1206,"modifier":"EXACT"},"end":{"value":1219,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1354,"modifier":"EXACT"},"end":{"value":1363,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1364,"modifier":"EXACT"},"end":{"value":1375,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2538,"modifier":"EXACT"},"end":{"value":2551,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":2606,"modifier":"EXACT"},"end":{"value":2649,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8UF96"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8UF96"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000617453.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000617453.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000617453.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000617453.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000947394.1","properties":[{"key":"ProteinId","value":"ENSP00000617453.1"},{"key":"GeneId","value":"ENSG00000107290.15"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"OpenTargets","id":"ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYNPEKTKKDSGWRTAICPDYCPNMYEEMETLASVLQSDIGQDMRVHNSTFLWFIPFVQSLMDLKDLGVAYIAQVVNHLYSEVKEVLNQTDAVCDKVTEFFLLILVSVIELHRNKKCLHLLWVSSQQWVEAVVKCAKLPTTAFTRSSEKSSGNCSKGTAMISSLSLHSMPSNSVQLAYVQLIRSLLKEGYQLGQQSLCKRFWDKLNLFLRGNLSLGWQLTSQETHELQSCLKQIIRNIKFKAPPCNTFVDLTSACKISPASYNKEESEQMGKTSRKDMHCLEASSPTFSKEPMKVQDSVLIKADNTIEGDNNEQNYIKDVKLEDHLLAGSCLKQSSKNIFTERAEDQIKISTRKQKSVKEISSYTPKDCTSRNGPERGCDRGIIVSTRLLTDSSTDALEKVSTSNEDFSLKDDALAKTSKRKTKVQKDEICAKLSHVIKKQHRKSTLVDNTINLDENLTVSNIESFYSRKDTGVQKGDGFIHNLSLDPSGVLDDKNGEQKSQNNVLPKEKQLKNEELVIFSFHENNCKIQEFHVDGKELIPFTEMTNASEKKSSPFKDLMTVPESRDEEMSNSTSVIYSNLTREQAPDISPKSDTLTDSQIDRDLHKLSLLAQASVITFPSDSPQNSSQLQRKVKEDKRCFTANQNNVGDTSRGQVIIISDSDDDDDERILSLEKLTKQDKICLEREHPEQHVSTVNSKEEKNPVKEEKTETLFQFEESDSQCFEFESSSEVFSVWQDHPDDNNSVQDGEKKCLAPIANTTNGQGCTDYVSEVVKKGAEGIEEHTRPRSISVEEFCEIEVKKPKRKRSEKPMAEDPVRPSSSVRNEGQSDTNKRDLVGNDFKSIDRRTSTPNSRIQRATTVSQKKSSKLCTCTEPIRKVPVSKTPKKTHSDAKKGQNRSSNYLSCRTTPAIVPPKKFRQCPEPTSTAEKLGLKKGPRKAYELSQRSLDYVAQLRDHGKTVGVVDTRKKTKLISPQNLSVRNNKKLLTSQELQMQRQIRPKSQKNRRRLSDCESTDVKRAGSHTAQNSDIFVPESDRSDYNCTGGTEVLANSNRKQLIKCMPSEPETIKAKHGSPATDDACPLNQCDSVVLNGTVPTNEVIVSTSEDPLGGGDPTARHIEMAALKEGEPDSSSDAEEDNLFLTQNDPEDMDLCSQMENDNYKLIELIHGKDTVEVEEDSVSRPQLESLSGTKCKYKDCLETTKNQGEYCPKHSEVKAADEDVFRKPGLPPPASKPLRPTTKIFSSKSTSRIAGLSKSLETSSALSPSLKNKSKGIQSILKVPQPVPLIAQKPVGEMKNSCNVLHPQSPNNSNRQGCKVPFGESKYFPSSSPVNILLSSQSVSDTFVKEVLKWKYEMFLNFGQCGPPASLCQSISRPVPVRFHNYGDYFNVFFPLMVLNTFETVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":2655,"molWeight":300241,"crc64":"9747B95267212FD4","md5":"18913DA0C906B0E69717BEA020C1E4AD"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":2,"Region":8,"Coiled coil":1,"Compositional bias":7},"uniParcId":"UPI004031EA7A"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8R0V1","uniProtkbId":"A0ACI8R0V1_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":3.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575364.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00094926"}],"value":"Helicase senataxin"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00044969"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00082841"}],"value":"SEN1 homolog"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575364.1"}],"value":"SETX"}}],"comments":[{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"ATP + H2O = ADP + phosphate + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:13065"},{"database":"ChEBI","id":"CHEBI:15377"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:43474"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00048954"}]}},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"Couples ATP hydrolysis with the unwinding of duplex DNA at the replication fork by translocating in the 5'-3' direction.","ecNumber":"5.6.2.3","evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00093875"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00064954"}],"value":"Homodimer. Interacts with PER2; the interaction inhibits termination of circadian target genes. Interacts with CHD4, POLR2A, PRKDC and TRIM28. Interacts with UBE2I. Interacts (via N-terminus domain) with EXOSC9 (via C-terminus region); the interaction enhances SETX sumoylation. Interacts with NCL (via N-terminus domain). Interacts with PABPN1, PABPC1 and SF3B1. Interacts with SMN1/SMN2 and POLR2A; SMN1/SMN2 recruits SETX to POLR2A"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004489"}],"value":"Cell projection, axon","id":"SL-0279"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004624"}],"value":"Cell projection, growth cone","id":"SL-0288"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004574"}],"value":"Chromosome, telomere","id":"SL-0276"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004496"}],"value":"Cytoplasm","id":"SL-0086"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004604"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00004642"}],"value":"Nucleus, nucleoplasm","id":"SL-0190"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00007913"}],"value":"Belongs to the DNA2/NAM7 helicase family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Domain","location":{"start":{"value":35,"modifier":"EXACT"},"end":{"value":335,"modifier":"EXACT"}},"description":"Helicase Sen1 N-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF12726"}]},{"type":"Domain","location":{"start":{"value":542,"modifier":"EXACT"},"end":{"value":825,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase helicase","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13086"}]},{"type":"Domain","location":{"start":{"value":834,"modifier":"EXACT"},"end":{"value":1032,"modifier":"EXACT"}},"description":"DNA2/NAM7 helicase-like C-terminal","evidences":[{"evidenceCode":"ECO:0000259","source":"Pfam","id":"PF13087"}]},{"type":"Region","location":{"start":{"value":1082,"modifier":"EXACT"},"end":{"value":1104,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1164,"modifier":"EXACT"},"end":{"value":1185,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":1205,"modifier":"EXACT"},"end":{"value":1285,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":717,"modifier":"EXACT"},"end":{"value":744,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}]},{"type":"Compositional bias","location":{"start":{"value":1168,"modifier":"EXACT"},"end":{"value":1181,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1236,"modifier":"EXACT"},"end":{"value":1279,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022840"}],"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023108"}],"id":"KW-0090","category":"Biological process","name":"Biological rhythms"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023273"}],"id":"KW-0966","category":"Cellular component","name":"Cell projection"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022454"}],"id":"KW-0158","category":"Cellular component","name":"Chromosome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"Coils"}],"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022490"}],"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022782"}],"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022763"}],"id":"KW-0227","category":"Biological process","name":"DNA damage"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023172"}],"id":"KW-0233","category":"Biological process","name":"DNA recombination"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023204"}],"id":"KW-0234","category":"Biological process","name":"DNA repair"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022806"}],"id":"KW-0347","category":"Molecular function","name":"Helicase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022801"}],"id":"KW-0378","category":"Molecular function","name":"Hydrolase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023235"}],"id":"KW-0413","category":"Molecular function","name":"Isomerase"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022499"}],"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022902"}],"id":"KW-0524","category":"Biological process","name":"Neurogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022741"}],"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00023242"}],"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022553"}],"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8R0V1"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8R0V1"}],"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022871"}],"id":"KW-0744","category":"Biological process","name":"Spermatogenesis"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022895"}],"id":"KW-0779","category":"Cellular component","name":"Telomere"},{"evidences":[{"evidenceCode":"ECO:0000256","source":"ARBA","id":"ARBA00022843"}],"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"11237011","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"authors":["Lander E.S.","Linton L.M.","Birren B.","Nusbaum C.","Zody M.C.","Baldwin J.","Devon K.","Dewar K.","Doyle M.","FitzHugh W.","Funke R.","Gage D.","Harris K.","Heaford A.","Howland J.","Kann L.","Lehoczky J.","LeVine R.","McEwan P.","McKernan K.","Meldrim J.","Mesirov J.P.","Miranda C.","Morris W.","Naylor J.","Raymond C.","Rosetti M.","Santos R.","Sheridan A.","Sougnez C.","Stange-Thomann N.","Stojanovic N.","Subramanian A.","Wyman D.","Rogers J.","Sulston J.","Ainscough R.","Beck S.","Bentley D.","Burton J.","Clee C.","Carter N.","Coulson A.","Deadman R.","Deloukas P.","Dunham A.","Dunham I.","Durbin R.","French L.","Grafham D.","Gregory S.","Hubbard T.","Humphray S.","Hunt A.","Jones M.","Lloyd C.","McMurray A.","Matthews L.","Mercer S.","Milne S.","Mullikin J.C.","Mungall A.","Plumb R.","Ross M.","Shownkeen R.","Sims S.","Waterston R.H.","Wilson R.K.","Hillier L.W.","McPherson J.D.","Marra M.A.","Mardis E.R.","Fulton L.A.","Chinwalla A.T.","Pepin K.H.","Gish W.R.","Chissoe S.L.","Wendl M.C.","Delehaunty K.D.","Miner T.L.","Delehaunty A.","Kramer J.B.","Cook L.L.","Fulton R.S.","Johnson D.L.","Minx P.J.","Clifton S.W.","Hawkins T.","Branscomb E.","Predki P.","Richardson P.","Wenning S.","Slezak T.","Doggett N.","Cheng J.F.","Olsen A.","Lucas S.","Elkin C.","Uberbacher E.","Frazier M.","Gibbs R.A.","Muzny D.M.","Scherer S.E.","Bouck J.B.","Sodergren E.J.","Worley K.C.","Rives C.M.","Gorrell J.H.","Metzker M.L.","Naylor S.L.","Kucherlapati R.S.","Nelson D.L.","Weinstock G.M.","Sakaki Y.","Fujiyama A.","Hattori M.","Yada T.","Toyoda A.","Itoh T.","Kawagoe C.","Watanabe H.","Totoki Y.","Taylor T.","Weissenbach J.","Heilig R.","Saurin W.","Artiguenave F.","Brottier P.","Bruls T.","Pelletier E.","Robert C.","Wincker P.","Smith D.R.","Doucette-Stamm L.","Rubenfield M.","Weinstock K.","Lee H.M.","Dubois J.","Rosenthal A.","Platzer M.","Nyakatura G.","Taudien S.","Rump A.","Yang H.","Yu J.","Wang J.","Huang G.","Gu J.","Hood L.","Rowen L.","Madan A.","Qin S.","Davis R.W.","Federspiel N.A.","Abola A.P.","Proctor M.J.","Myers R.M.","Schmutz J.","Dickson M.","Grimwood J.","Cox D.R.","Olson M.V.","Kaul R.","Raymond C.","Shimizu N.","Kawasaki K.","Minoshima S.","Evans G.A.","Athanasiou M.","Schultz R.","Roe B.A.","Chen F.","Pan H.","Ramser J.","Lehrach H.","Reinhardt R.","McCombie W.R.","de la Bastide M.","Dedhia N.","Blocker H.","Hornischer K.","Nordsiek G.","Agarwala R.","Aravind L.","Bailey J.A.","Bateman A.","Batzoglou S.","Birney E.","Bork P.","Brown D.G.","Burge C.B.","Cerutti L.","Chen H.C.","Church D.","Clamp M.","Copley R.R.","Doerks T.","Eddy S.R.","Eichler E.E.","Furey T.S.","Galagan J.","Gilbert J.G.","Harmon C.","Hayashizaki Y.","Haussler D.","Hermjakob H.","Hokamp K.","Jang W.","Johnson L.S.","Jones T.A.","Kasif S.","Kaspryzk A.","Kennedy S.","Kent W.J.","Kitts P.","Koonin E.V.","Korf I.","Kulp D.","Lancet D.","Lowe T.M.","McLysaght A.","Mikkelsen T.","Moran J.V.","Mulder N.","Pollara V.J.","Ponting C.P.","Schuler G.","Schultz J.","Slater G.","Smit A.F.","Stupka E.","Szustakowski J.","Thierry-Mieg D.","Thierry-Mieg J.","Wagner L.","Wallis J.","Wheeler R.","Williams A.","Wolf Y.I.","Wolfe K.H.","Yang S.P.","Yeh R.F.","Collins F.","Guyer M.S.","Peterson J.","Felsenfeld A.","Wetterstrand K.A.","Patrinos A.","Morgan M.J.","de Jong P.","Catanese J.J.","Osoegawa K.","Shizuya H.","Choi S.","Chen Y.J."],"citationCrossReferences":[{"database":"PubMed","id":"11237011"},{"database":"DOI","id":"10.1038/35057062"}],"title":"Initial sequencing and analysis of the human genome.","publicationDate":"2001","journal":"Nature","firstPage":"860","lastPage":"921","volume":"409"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575364.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575364.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"15496913","citationType":"journal article","authoringGroup":["International Human Genome Sequencing Consortium"],"citationCrossReferences":[{"database":"PubMed","id":"15496913"},{"database":"DOI","id":"10.1038/nature03001"}],"title":"Finishing the euchromatic sequence of the human genome.","publicationDate":"2004","journal":"Nature","firstPage":"931","lastPage":"945","volume":"431"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575364.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575364.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AL159997","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL353701","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000905305.1","properties":[{"key":"ProteinId","value":"ENSP00000575364.1"},{"key":"GeneId","value":"ENSG00000107290.15"}]},{"database":"HGNC","id":"HGNC:445","properties":[{"key":"GeneName","value":"SETX"}]},{"database":"OpenTargets","id":"ENSG00000107290","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000160918","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"CDD","id":"cd18042","properties":[{"key":"EntryName","value":"DEXXQc_SETX"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd18808","properties":[{"key":"EntryName","value":"SF1_C_Upf1"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000798","properties":[{"key":"EntryName","value":"Probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.40.50.300:FF:000810","properties":[{"key":"EntryName","value":"probable helicase senataxin"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.40.50.300","properties":[{"key":"EntryName","value":"P-loop containing nucleotide triphosphate hydrolases"},{"key":"MatchStatus","value":"2"}]},{"database":"InterPro","id":"IPR045055","properties":[{"key":"EntryName","value":"DNA2/NAM7-like"}]},{"database":"InterPro","id":"IPR041679","properties":[{"key":"EntryName","value":"DNA2/NAM7-like_C"}]},{"database":"InterPro","id":"IPR041677","properties":[{"key":"EntryName","value":"DNA2/NAM7_AAA_11"}]},{"database":"InterPro","id":"IPR024481","properties":[{"key":"EntryName","value":"Helicase_Sen1_N"}]},{"database":"InterPro","id":"IPR027417","properties":[{"key":"EntryName","value":"P-loop_NTPase"}]},{"database":"InterPro","id":"IPR047187","properties":[{"key":"EntryName","value":"SF1_C_Upf1"}]},{"database":"PANTHER","id":"PTHR10887","properties":[{"key":"EntryName","value":"DNA2/NAM7 HELICASE FAMILY"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR10887:SF537","properties":[{"key":"EntryName","value":"HELICASE SENATAXIN-RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13086","properties":[{"key":"EntryName","value":"AAA_11"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF13087","properties":[{"key":"EntryName","value":"AAA_12"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF12726","properties":[{"key":"EntryName","value":"SEN1_N"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF52540","properties":[{"key":"EntryName","value":"P-loop containing nucleoside triphosphate hydrolases"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSTCCWCTPGGASTIDFLKRYASNTPSGEFQTADEDLCYCLECVAEYHKARDELPFLHEVLWELETLRLINHFEKSMKAEIGDDDELYIVDNNGEMPLFDITGQDFENKLRVPLLEILKYPYLLLHERVNELCVEALCRMEQANCSFQVFDKHPGIYLFLVHPNEMVRRWAILTARNLGKVDRDDYYDLQEVLLCLFKVIELGLLESPDIYTSSVLEKGKLILLPSHMYDTTNYKSYWLGICMLLTILEEQAMDSLLLGSDKQNDFMQSILHTMEREADDDSVDPFWPALHCFMVILDRLGSKVWGQLMDPIVAFQTIINNASYNREIRHIRNSSVRTKLEPESYLDDMVTCSQIVYNYNPEKTKKVAQEWLNSPNRENFYQLQVRKFPADYIKYWEFAVYLEECELAKQLYPKENDLVFLAPERINEEKKDTERNDIQDLHEYHSGYVHKFRRTSVMRNGKTECYLSIQTQENFPANLNELVNCIVISSLVTTQRKLKAMSLLGSRNQLARAVLNPNPMDFCTKDLLTTTSERIIAYLRDFNEDQKKAIETAYAMVKHSPSVAKICLIHGPPGTGKSKTIVGLLYRLLTENQRKGHSDENSNAKIKQNRVLVCAPSNAAVDELMKKIILEFKEKCKDKKNPLGNCGDINLVRLGPEKSINSEVLKFSLDSQVNHRMKKELPSHVQAMHKRKEFLDYQLDELSRQRALCRGGREIQRQELDENISKVSKERQELASKIKEVQGRPQKTQSIIILESHIICCTLSTSGGLLLESAFRGQGGVPFSCVIVDEAGQSCEIETLTPLIHRCNKLILVGDPKQLPPTVISMKAQEYGYDQSMMARFCRLLEENVEHNMISRLPILQLTVQYRMHPDICLFPSNYVYNRNLKTNRQTEAIRCSSDWPFQPYLVFDVGDGSERRDNDSYINVQEIKLVMEIIKLIKDKRKDVSFRNIGIITHYKAQKTMIQKDLDKEFDRKGPAEVDTVDAFQGRQKDCVIVTCVRANSIQGSIGFLASLQRLNVTITRAKYSLFILGHLRTLMENQHWNQLIQDAQKRGAIIKTCDKNYRHDAVKILKLKPVLQRSLTHPPTIAPEGSRPQGGLPSSKLDSGFAKTSVAASLYHTPSDSKEITLTVTSKDPERPPVHDQLQDPRLLKRMGIEVKGGIFLWDPQPSSPQHPGATPPTGEPGFPVVHQDLSHIQQPAAVVAALSSHKPPVRGEPPAASPEASTCQSKCDDPEEELCHRREARAFSEGEQEKCGSETHHTRRNSRWDKRTLEQEDSSSKKRKLL","length":1285,"molWeight":146992,"crc64":"0D263ED0B9BB082B","md5":"705A3B74B44EECFA9714610C657C2AF0"},"extraAttributes":{"countByCommentType":{"CATALYTIC ACTIVITY":2,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"SIMILARITY":1},"countByFeatureType":{"Domain":3,"Region":3,"Coiled coil":1,"Compositional bias":2},"uniParcId":"UPI004031BFDD"}}]}