{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q96FC9","secondaryAccessions":["Q13333","Q86VQ4","Q86W62","Q92498","Q92770","Q92998","Q92999"],"uniProtkbId":"DDX11_HUMAN","entryAudit":{"firstPublicDate":"2006-01-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2001-12-01","entryVersion":193,"sequenceVersion":1},"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:0000305"}],"value":"ATP-dependent DNA helicase DDX11"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10648783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18499658"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22102414"}],"value":"5.6.2.3"}]},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9013641"}],"value":"CHL1-related protein 1"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9013641"}],"value":"hCHLR1"}]},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:2736"}],"value":"DEAD/H-box protein 11"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"DNA 5'-3' helicase DDX11"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8798685"}],"value":"Keratinocyte growth factor-regulated gene 2 protein"},"shortNames":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8798685"}],"value":"KRG-2"}]}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:2736"}],"value":"DDX11"},"synonyms":[{"value":"CHL1"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9013641"}],"value":"CHLR1"},{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8798685"}],"value":"KRG2"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q6AXC6"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10648783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18499658"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20124417"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"21854770"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22102414"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23116066"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23797032"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26503245"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27477908"}],"value":"DNA-dependent ATPase and ATP-dependent DNA helicase that participates in various functions in genomic stability, including DNA replication, DNA repair and heterochromatin organization as well as in ribosomal RNA synthesis (PubMed:10648783, PubMed:21854770, PubMed:23797032, PubMed:26089203, PubMed:26503245). Its double-stranded DNA helicase activity requires either a minimal 5'-single-stranded tail length of approximately 15 nt (flap substrates) or 10 nt length single-stranded gapped DNA substrates of a partial duplex DNA structure for helicase loading and translocation along DNA in a 5' to 3' direction (PubMed:10648783, PubMed:18499658, PubMed:22102414). The helicase activity is capable of displacing duplex regions up to 100 bp, which can be extended up to 500 bp by the replication protein A (RPA) or the cohesion CTF18-replication factor C (Ctf18-RFC) complex activities (PubMed:18499658). Also shows ATPase- and helicase activities on substrates that mimic key DNA intermediates of replication, repair and homologous recombination reactions, including forked duplex, anti-parallel G-quadruplex and three-stranded D-loop DNA molecules (PubMed:22102414, PubMed:26503245). Plays a role in DNA double-strand break (DSB) repair at the DNA replication fork during DNA replication recovery from DNA damage (PubMed:23797032). Recruited with TIMELESS factor upon DNA-replication stress response at DNA replication fork to preserve replication fork progression, and hence ensure DNA replication fidelity (PubMed:26503245). Also cooperates with TIMELESS factor during DNA replication to regulate proper sister chromatid cohesion and mitotic chromosome segregation (PubMed:17105772, PubMed:18499658, PubMed:20124417, PubMed:23116066, PubMed:23797032). Stimulates 5'-single-stranded DNA flap endonuclease activity of FEN1 in an ATP- and helicase-independent manner; and hence it may contribute in Okazaki fragment processing at DNA replication fork during lagging strand DNA synthesis (PubMed:18499658). Its ability to function at DNA replication fork is modulated by its binding to long non-coding RNA (lncRNA) cohesion regulator non-coding RNA DDX11-AS1/CONCR, which is able to increase both DDX11 ATPase activity and binding to DNA replicating regions (PubMed:27477908). Also plays a role in heterochromatin organization (PubMed:21854770). Involved in rRNA transcription activation through binding to active hypomethylated rDNA gene loci by recruiting UBTF and the RNA polymerase Pol I transcriptional machinery (PubMed:26089203). Plays a role in embryonic development and prevention of aneuploidy (By similarity). Involved in melanoma cell proliferation and survival (PubMed:23116066). Associates with chromatin at DNA replication fork regions (PubMed:27477908). Binds to single- and double-stranded DNAs (PubMed:18499658, PubMed:22102414, PubMed:9013641)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17189189"}],"value":"(Microbial infection) Required for bovine papillomavirus type 1 regulatory protein E2 loading onto mitotic chromosomes during DNA replication for the viral genome to be maintained and segregated"}],"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":"10648783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18499658"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22102414"}]}},{"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":"10648783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18499658"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22102414"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27477908"}]}},{"commentType":"COFACTOR","cofactors":[{"name":"Mg(2+)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10648783"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:18420"}}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10648783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18499658"}],"value":"Both helicase and DNA-dependent ATPase activities are maximal in the presence of Mg(2+); Mn(2+) and Ca(2+) but not Zn(2+) will substitute in vitro (PubMed:10648783)."}]}},{"commentType":"COFACTOR","cofactors":[{"name":"[4Fe-4S] cluster","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18074"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:49883"}}],"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18074"}],"value":"Binds 1 [4Fe-4S] cluster."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10648783"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18499658"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27477908"}],"value":"ATPase activity is stimulated by high magnesium salt levels (up to a 0.1 M), and potassium salts (glutamate, chloride or acetate) are more effective than the corresponding sodium salts (PubMed:10648783, PubMed:18499658). ATPase activity is enhanced by the long non-coding RNA (lncRNA) cohesion regulator non-coding RNA (CONCR) (PubMed:27477908). Double-stranded DNA helicase activity is maximal with magnesium ions at low concentrations (0.5-1 mM) whereas is markedly inhibited at higher levels (5 mM and above) (PubMed:10648783, PubMed:18499658). Double-stranded DNA helicase activity is stimulated by 25-50 mM potassium acetate, stimulated to a lesser extent by 25 mM of ammonium acetate, and markedly inhibited by sodium acetate (PubMed:18499658)"}],"commentType":"ACTIVITY REGULATION"},{"commentType":"BIOPHYSICOCHEMICAL PROPERTIES","kineticParameters":{"michaelisConstants":[{"constant":0.588,"unit":"mM","substrate":"ATP","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22102414"}]}]},"phDependence":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10648783"}],"value":"Optimum pH is 7.4 for DNA-dependent ATPase activity (PubMed:10648783)."}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18499658"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20124417"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26503245"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32705708"}],"value":"Associates with the CTF18-RFC complex (PubMed:18499658). Associates with a cohesin complex composed of RAD21, SMC1 proteins and SMC3 (PubMed:17105772). Interacts with CHTF18 (PubMed:18499658). Interacts with DSCC1 (PubMed:18499658). Interacts with FEN1; this interaction is direct and increases flap endonuclease activity of FEN1 (PubMed:18499658). Interacts with PCNA (PubMed:18499658). Interacts with POLR1A and UBTF (PubMed:26089203). Interacts with RAD21, SMC1 proteins and SMC3 (PubMed:17105772). Interacts with RFC2 (PubMed:18499658). Interacts with TIMELESS; this interaction increases recruitment of both proteins onto chromatin in response to replication stress induction by hydroxyurea (PubMed:20124417, PubMed:26503245)"}],"commentType":"SUBUNIT"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17189189"}],"value":"(Microbial infection) Interacts with bovine papillomavirus type 1 regulatory protein E2; this interaction stimulates the recruitment of E2 onto mitotic chromosomes"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q96FC9","intActId":"EBI-713068"},"interactantTwo":{"uniProtKBAccession":"Q9BT04","geneName":"FUZ","intActId":"EBI-750341"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"}],"value":"During the early stages of mitosis, localizes to condensed chromatin and is released from the chromatin with progression to metaphase. Also localizes to the spindle poles throughout mitosis and at the midbody at later stages of mitosis (metaphase to telophase) (PubMed:17105772). In interphase, colocalizes with nucleolin in the nucleolus (PubMed:26089203)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9013641"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"}],"value":"Cytoplasm, cytoskeleton, spindle pole","id":"SL-0448"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"}],"value":"Midbody","id":"SL-0469"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17105772"}],"value":"Cytoplasm, cytoskeleton, microtubule organizing center, centrosome","id":"SL-0048"}}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17189189"}],"value":"(Microbial infection) Colocalizes with bovine papillomavirus type 1 regulatory protein E2 on mitotic chromosomes at early stages of mitosis"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17189189"}],"value":"Chromosome","id":"SL-0468"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q96FC9-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q96FC9-2"],"sequenceIds":["VSP_016864","VSP_016865"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["Q96FC9-3"],"sequenceIds":["VSP_016860","VSP_016864","VSP_016865"],"isoformSequenceStatus":"Described"},{"name":{"value":"4"},"isoformIds":["Q96FC9-4"],"sequenceIds":["VSP_016863","VSP_016864","VSP_016865"],"isoformSequenceStatus":"Described"},{"name":{"value":"5"},"isoformIds":["Q96FC9-5"],"sequenceIds":["VSP_016861","VSP_016862"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23116066"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8798685"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9013641"}],"value":"Expressed in melanoma cells. Not detected in epidermal melanocytes of normal skin (at protein level) (PubMed:23116066). Highly expressed in spleen, B-cells, thymus, testis, ovary, small intestine and pancreas (PubMed:9013641). Very low expression seen in brain (PubMed:9013641). Expressed in dividing cells and/or cells undergoing high levels of recombination (PubMed:9013641). No expression detected in cells signaled to terminally differentiate (PubMed:9013641). Expressed weakly in keratinocytes (PubMed:8798685)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23116066"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8798685"}],"value":"Up-regulated by serum (at protein level) (PubMed:26089203). Up-regulated by fibroblast growth factor FGF7 (PubMed:8798685). Expressed in keratinocyte growth factor-stimulated cells but not in EGF and IL1-beta-treated keratinocytes (PubMed:8798685). Up-regulated with progression from noninvasive to invasive melanoma (PubMed:23116066)"}],"commentType":"INDUCTION"},{"commentType":"DISEASE","disease":{"diseaseId":"Warsaw breakage syndrome","diseaseAccession":"DI-02764","acronym":"WBRS","description":"A syndrome characterized by severe microcephaly, pre- and postnatal growth retardation, facial dysmorphism and abnormal skin pigmentation. Additional features include high arched palate, coloboma of the right optic disk, deafness, ventricular septal defect, toes and fingers abnormalities. At cellular level, drug-induced chromosomal breakage, a feature of Fanconi anemia, and sister chromatid cohesion defects, a feature of Roberts syndrome, coexist.","diseaseCrossReference":{"database":"MIM","id":"613398"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20137776"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23033317"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"}]},"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 DEAD box helicase family. DEAH subfamily. DDX11/CHL1 sub-subfamily"}],"commentType":"SIMILARITY"},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"CAA67895.1","note":"Truncated N-terminus.","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Frameshift","sequence":"CAA67895.1","evidences":[{"evidenceCode":"ECO:0000305"}]},{"commentType":"WEB RESOURCE","resourceName":"DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 (DDX11)","resourceUrl":"https://databases.lovd.nl/shared/genes/DDX11","ftp":false,"note":"Leiden Open Variation Database (LOVD)"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":970,"modifier":"EXACT"}},"description":"ATP-dependent DNA helicase DDX11","featureId":"PRO_0000055136"},{"type":"Domain","location":{"start":{"value":9,"modifier":"EXACT"},"end":{"value":445,"modifier":"EXACT"}},"description":"Helicase ATP-binding","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00541"}]},{"type":"Region","location":{"start":{"value":289,"modifier":"EXACT"},"end":{"value":312,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":818,"modifier":"EXACT"},"end":{"value":849,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Motif","location":{"start":{"value":393,"modifier":"EXACT"},"end":{"value":396,"modifier":"EXACT"}},"description":"DEAH box"},{"type":"Compositional bias","location":{"start":{"value":289,"modifier":"EXACT"},"end":{"value":304,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Binding site","location":{"start":{"value":44,"modifier":"EXACT"},"end":{"value":51,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00541"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":267,"modifier":"EXACT"},"end":{"value":267,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18074"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883"}},{"type":"Binding site","location":{"start":{"value":285,"modifier":"EXACT"},"end":{"value":285,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18074"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883"}},{"type":"Binding site","location":{"start":{"value":315,"modifier":"EXACT"},"end":{"value":315,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18074"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883"}},{"type":"Binding site","location":{"start":{"value":350,"modifier":"EXACT"},"end":{"value":350,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:49883"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"P18074"}],"ligand":{"name":"[4Fe-4S] cluster","id":"ChEBI:CHEBI:49883"}},{"type":"Modified residue","location":{"start":{"value":262,"modifier":"EXACT"},"end":{"value":262,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Alternative 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5","evidences":[{"evidenceCode":"ECO:0000303","source":"Reference","id":"Ref.3"}],"featureId":"VSP_016862","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":685,"modifier":"EXACT"},"end":{"value":734,"modifier":"EXACT"}},"description":"in isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8798685"}],"featureId":"VSP_016863","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":820,"modifier":"EXACT"},"end":{"value":906,"modifier":"EXACT"}},"description":"in isoform 2, isoform 3 and isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8798685"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9013641"},{"evidenceCode":"ECO:0000303","source":"Reference","id":"Ref.3"}],"featureId":"VSP_016864","alternativeSequence":{"originalSequence":"SPRPGTPREGSGGEPVHEGRQPVHRQGHQAPEGFCQRSAPGPAICPAPCPGQAAGLDPSPCGGQSYLWPRHCCCAEVSPGEVGLFLM","alternativeSequences":["PRAPGQAPPGKALVENLCMKAVNQSIGRAIRHQKDFASVVLLDQRYARPPVLAKLPAWIRARVEVKATFGPAIAAVQKFHREKSASS"]}},{"type":"Alternative sequence","location":{"start":{"value":907,"modifier":"EXACT"},"end":{"value":970,"modifier":"EXACT"}},"description":"in isoform 2, isoform 3 and isoform 4","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"8798685"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9013641"},{"evidenceCode":"ECO:0000303","source":"Reference","id":"Ref.3"}],"featureId":"VSP_016865","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":39,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"8798685"}],"featureId":"VAR_024808","alternativeSequence":{"originalSequence":"I","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":263,"modifier":"EXACT"},"end":{"value":263,"modifier":"EXACT"}},"description":"in WBRS; impairs the helicase activity by perturbing its DNA binding and DNA-dependent ATPase activity; reduces binding to rDNA promoter and promotion of rDNA transcription; dbSNP:rs201968272","featureCrossReferences":[{"database":"dbSNP","id":"rs201968272"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23033317"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"26089203"}],"featureId":"VAR_069099","alternativeSequence":{"originalSequence":"R","alternativeSequences":["Q"]}},{"type":"Natural variant","location":{"start":{"value":567,"modifier":"EXACT"},"end":{"value":567,"modifier":"EXACT"}},"description":"in dbSNP:rs2075322","featureCrossReferences":[{"database":"dbSNP","id":"rs2075322"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9013641"},{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"featureId":"VAR_024809","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":575,"modifier":"EXACT"},"end":{"value":575,"modifier":"EXACT"}},"description":"in dbSNP:rs17857386","featureCrossReferences":[{"database":"dbSNP","id":"rs17857386"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"Reference","id":"Ref.3"}],"featureId":"VAR_024810","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":856,"modifier":"EXACT"},"end":{"value":856,"modifier":"EXACT"}},"description":"in dbSNP:rs1046457","featureCrossReferences":[{"database":"dbSNP","id":"rs1046457"}],"featureId":"VAR_052175","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Natural variant","location":{"start":{"value":864,"modifier":"EXACT"},"end":{"value":864,"modifier":"EXACT"}},"description":"in dbSNP:rs3893679","featureCrossReferences":[{"database":"dbSNP","id":"rs3893679"}],"featureId":"VAR_052176","alternativeSequence":{"originalSequence":"C","alternativeSequences":["R"]}},{"type":"Natural 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