{"results":[{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O15265","secondaryAccessions":["B4E207","E9PHP9","O75328","O75329","Q9Y6P8"],"uniProtkbId":"ATX7_HUMAN","entryAudit":{"firstPublicDate":"1999-07-15","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"1998-01-01","entryVersion":220,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000312","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:0000303","source":"PubMed","id":"10441328"}],"value":"Ataxin-7"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9288099"}],"value":"Spinocerebellar ataxia type 7 protein"}}]},"genes":[{"geneName":{"value":"ATXN7"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"9288099"}],"value":"SCA7"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15932940"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18206972"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22100762"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24493646"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9288099"}],"value":"Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex (PubMed:15932940, PubMed:18206972). Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation (PubMed:15932940, PubMed:18206972). Probably involved in tethering the deubiquitination module within the SAGA complex (PubMed:24493646). Necessary for microtubule cytoskeleton stabilization (PubMed:22100762). Involved in neurodegeneration (PubMed:9288099)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11371513"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"11734547"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15115762"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15932940"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"18206972"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22100762"}],"value":"Component of the SAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7 (PubMed:15932940, PubMed:18206972). The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22 (PubMed:15932940, PubMed:18206972). Interacts with SORBS1, PSMC1 and CRX (PubMed:11371513, PubMed:11734547). Interacts with TRRAP, GCN5L2 and TAF10 (PubMed:15115762). Interacts with alpha tubulin (PubMed:22100762)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"O00468","geneName":"AGRN","intActId":"EBI-947482"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q9P209","geneName":"CEP72","intActId":"EBI-739498"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q8N2S1","geneName":"LTBP4","intActId":"EBI-947718"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"O00339","geneName":"MATN2","intActId":"EBI-949020"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"O75095","geneName":"MEGF6","intActId":"EBI-947597"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q7Z7M0","geneName":"MEGF8","intActId":"EBI-947617"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q9Y3T9","geneName":"NOC2L","intActId":"EBI-751547"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"P37198","geneName":"NUP62","intActId":"EBI-347978"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q8IUQ4","geneName":"SIAH1","intActId":"EBI-747107"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q9BX66","geneName":"SORBS1","intActId":"EBI-433642"},"numberOfExperiments":15,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q12962","geneName":"TAF10","intActId":"EBI-708376"},"numberOfExperiments":7,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"Q9Y4A5","geneName":"TRRAP","intActId":"EBI-399128"},"numberOfExperiments":8,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15265","intActId":"EBI-708350"},"interactantTwo":{"uniProtKBAccession":"P02283","geneName":"His2B:CG33910","intActId":"EBI-188137"},"numberOfExperiments":2,"organismDiffer":true}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform a","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441328"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16314424"}],"value":"In addition to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus (PubMed:10441328). It is able to shuttle between the nucleus and cytoplasm (PubMed:16314424)"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12533095"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"16314424"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22100762"}],"value":"Nucleus","id":"SL-0191"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441328"}],"value":"Nucleus, nucleolus","id":"SL-0188"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441328"}],"value":"Nucleus matrix","id":"SL-0181"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22100762"}],"value":"Cytoplasm, cytoskeleton","id":"SL-0090"}}]},{"commentType":"SUBCELLULAR LOCATION","molecule":"Isoform b","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12533095"}],"value":"Cytoplasm","id":"SL-0086"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"a"},"synonyms":[{"value":"Ataxin-7a"}],"isoformIds":["O15265-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"b"},"synonyms":[{"value":"Ataxin-7b"},{"value":"SCA7b"}],"isoformIds":["O15265-2"],"sequenceIds":["VSP_007695"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["O15265-3"],"sequenceIds":["VSP_044456"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12533095"}],"value":"Isoform a is expressed in CNS, but is expressed predominantly in the peripherical tissues"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform a"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12533095"}],"value":"Isoform b is expressed in CNS (PubMed:12533095). Also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is expressed at a lower level in the lung, lymphoblast and intestine (PubMed:12533095)"}],"commentType":"TISSUE SPECIFICITY","molecule":"Isoform b"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17646170"}],"value":"Proteolytically cleaved by caspase-7 (CASP7) (PubMed:17646170). The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration (PubMed:17646170)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19843541"}],"value":"Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but has no effect on subcellular location or interaction with components of the STAGA complex"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9288099"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9425224"}],"value":"The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to further expansion"}],"commentType":"POLYMORPHISM"},{"commentType":"DISEASE","disease":{"diseaseId":"Spinocerebellar ataxia 7","diseaseAccession":"DI-01071","acronym":"SCA7","description":"Spinocerebellar ataxia is 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. SCA7 belongs to the autosomal dominant cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and pigmentary macular dystrophy.","diseaseCrossReference":{"database":"MIM","id":"164500"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9288099"}]},"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 ataxin-7 family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":892,"modifier":"EXACT"}},"description":"Ataxin-7","featureId":"PRO_0000064759"},{"type":"Domain","location":{"start":{"value":334,"modifier":"EXACT"},"end":{"value":401,"modifier":"EXACT"}},"description":"SCA7","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00838"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":74,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":195,"modifier":"EXACT"},"end":{"value":247,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":298,"modifier":"EXACT"},"end":{"value":328,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":505,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":616,"modifier":"EXACT"},"end":{"value":730,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":818,"modifier":"EXACT"},"end":{"value":892,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":15,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":38,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":55,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":195,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":318,"modifier":"EXACT"},"end":{"value":327,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":403,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":405,"modifier":"EXACT"},"end":{"value":419,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":448,"modifier":"EXACT"},"end":{"value":458,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":468,"modifier":"EXACT"},"end":{"value":483,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":493,"modifier":"EXACT"},"end":{"value":502,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":616,"modifier":"EXACT"},"end":{"value":629,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":640,"modifier":"EXACT"},"end":{"value":669,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":670,"modifier":"EXACT"},"end":{"value":680,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":685,"modifier":"EXACT"},"end":{"value":695,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":716,"modifier":"EXACT"},"end":{"value":730,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":840,"modifier":"EXACT"},"end":{"value":851,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Site","location":{"start":{"value":266,"modifier":"EXACT"},"end":{"value":267,"modifier":"EXACT"}},"description":"Cleavage; by caspase-7","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17646170"}]},{"type":"Site","location":{"start":{"value":344,"modifier":"EXACT"},"end":{"value":345,"modifier":"EXACT"}},"description":"Cleavage; by caspase-7","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17646170"}]},{"type":"Cross-link","location":{"start":{"value":257,"modifier":"EXACT"},"end":{"value":257,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19843541"}]},{"type":"Cross-link","location":{"start":{"value":257,"modifier":"EXACT"},"end":{"value":257,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternate","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":166,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_044456","alternativeSequence":{"originalSequence":"MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHY","alternativeSequences":["MEGSKTPLQSSPSAQELKAPL"]}},{"type":"Alternative sequence","location":{"start":{"value":888,"modifier":"EXACT"},"end":{"value":892,"modifier":"EXACT"}},"description":"in isoform b","evidences":[{"evidenceCode":"ECO:0000305"}],"featureId":"VSP_007695","alternativeSequence":{"originalSequence":"PKARP","alternativeSequences":["DISSPCLRTGISATSPQSPDLKSKGTSLTAENSTGRNNADTFEDKLHLHSALWTPRCL"]}},{"type":"Natural variant","location":{"start":{"value":264,"modifier":"EXACT"},"end":{"value":264,"modifier":"EXACT"}},"description":"in dbSNP:rs1053338","featureCrossReferences":[{"database":"dbSNP","id":"rs1053338"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9425224"}],"featureId":"VAR_011823","alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":573,"modifier":"EXACT"},"end":{"value":573,"modifier":"EXACT"}},"description":"in dbSNP:rs3733124","featureCrossReferences":[{"database":"dbSNP","id":"rs3733124"}],"featureId":"VAR_053779","alternativeSequence":{"originalSequence":"I","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":663,"modifier":"EXACT"},"end":{"value":663,"modifier":"EXACT"}},"description":"in dbSNP:rs1053340","featureCrossReferences":[{"database":"dbSNP","id":"rs1053340"}],"featureId":"VAR_011824","alternativeSequence":{"originalSequence":"P","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":862,"modifier":"EXACT"},"end":{"value":862,"modifier":"EXACT"}},"description":"in dbSNP:rs3774729","featureCrossReferences":[{"database":"dbSNP","id":"rs3774729"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"14702039"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"9425224"}],"featureId":"VAR_020143","alternativeSequence":{"originalSequence":"V","alternativeSequences":["M"]}},{"type":"Mutagenesis","location":{"start":{"value":257,"modifier":"EXACT"},"end":{"value":257,"modifier":"EXACT"}},"description":"Almost completely abolishes sumoylation.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19843541"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Mutagenesis","location":{"start":{"value":266,"modifier":"EXACT"},"end":{"value":266,"modifier":"EXACT"}},"description":"Abolished cleavage by caspase-7 and attenuates formation of protein aggregates in SCA7 degeneration; when associated with N-344.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17646170"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Mutagenesis","location":{"start":{"value":344,"modifier":"EXACT"},"end":{"value":344,"modifier":"EXACT"}},"description":"Abolished cleavage by caspase-7 and attenuates formation of protein aggregates in SCA7 degeneration; when associated with N-266.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17646170"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Mutagenesis","location":{"start":{"value":858,"modifier":"EXACT"},"end":{"value":858,"modifier":"EXACT"}},"description":"No effect on sumoylation.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19843541"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Sequence conflict","location":{"start":{"value":105,"modifier":"EXACT"},"end":{"value":105,"modifier":"EXACT"}},"description":"in Ref. 2; AAC19162","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"P","alternativeSequences":["H"]}},{"type":"Sequence conflict","location":{"start":{"value":129,"modifier":"EXACT"},"end":{"value":129,"modifier":"EXACT"}},"description":"in Ref. 2; AAC19162","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"C","alternativeSequences":["S"]}},{"type":"Sequence conflict","location":{"start":{"value":888,"modifier":"EXACT"},"end":{"value":892,"modifier":"EXACT"}},"description":"in Ref. 2; AAC39765/AAC19163","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"PKARP","alternativeSequences":["VGNGL"]}},{"type":"Turn","location":{"start":{"value":343,"modifier":"EXACT"},"end":{"value":345,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2KKR"}]},{"type":"Turn","location":{"start":{"value":352,"modifier":"EXACT"},"end":{"value":354,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2KKR"}]},{"type":"Helix","location":{"start":{"value":369,"modifier":"EXACT"},"end":{"value":374,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2KKR"}]},{"type":"Beta strand","location":{"start":{"value":378,"modifier":"EXACT"},"end":{"value":380,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2KKR"}]},{"type":"Helix","location":{"start":{"value":382,"modifier":"EXACT"},"end":{"value":393,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"2KKR"}]},{"type":"Beta strand","location":{"start":{"value":511,"modifier":"EXACT"},"end":{"value":514,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KTR"}]},{"type":"Beta strand","location":{"start":{"value":530,"modifier":"EXACT"},"end":{"value":532,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KTR"}]},{"type":"Beta strand","location":{"start":{"value":534,"modifier":"EXACT"},"end":{"value":537,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KTR"}]},{"type":"Helix","location":{"start":{"value":541,"modifier":"EXACT"},"end":{"value":557,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7KTR"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0963","category":"Cellular component","name":"Cytoplasm"},{"id":"KW-0206","category":"Cellular component","name":"Cytoskeleton"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"id":"KW-0523","category":"Disease","name":"Neurodegeneration"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0950","category":"Disease","name":"Spinocerebellar ataxia"},{"id":"KW-0804","category":"Biological process","name":"Transcription"},{"id":"KW-0805","category":"Biological process","name":"Transcription regulation"},{"id":"KW-0818","category":"Coding sequence diversity","name":"Triplet repeat expansion"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"9288099","citationType":"journal article","authors":["David G.","Abbas N.","Stevanin G.","Duerr A.","Yvert G.","Cancel G.","Weber C.","Imbert G.","Saudou F.","Antoniou E.","Drabkin H.","Gemmill R.","Giunti P.","Benomar A.","Wood N.","Ruberg M.","Agid Y.","Mandel J.-L.","Brice A."],"citationCrossReferences":[{"database":"PubMed","id":"9288099"},{"database":"DOI","id":"10.1038/ng0997-65"}],"title":"Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.","publicationDate":"1997","journal":"Nat. Genet.","firstPage":"65","lastPage":"70","volume":"17"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A)","FUNCTION","INVOLVEMENT IN SCA7","POLYMORPHISM"],"referenceComments":[{"value":"Lymphoblast","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"9425224","citationType":"journal article","authors":["Del-Favero J.","Krols L.","Michalik A.","Theuns J.","Loefgren A.","Goossens D.","Wehnert A.","Van den Bossche D.","Van Zand K.","Backhovens H.","van Regenmorter N.","Martin J.-J.","Van Broeckhoven C."],"citationCrossReferences":[{"database":"PubMed","id":"9425224"},{"database":"DOI","id":"10.1093/hmg/7.2.177"}],"title":"Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion.","publicationDate":"1998","journal":"Hum. Mol. Genet.","firstPage":"177","lastPage":"186","volume":"7"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A)","NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-131","POLYMORPHISM","VARIANTS ARG-264 AND MET-862"],"referenceComments":[{"value":"Colon","type":"TISSUE"}]},{"referenceNumber":3,"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] (ISOFORM 3)","VARIANTS ARG-264 AND MET-862"],"referenceComments":[{"value":"Trachea","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"16641997","citationType":"journal article","authors":["Muzny D.M.","Scherer S.E.","Kaul R.","Wang J.","Yu J.","Sudbrak R.","Buhay C.J.","Chen R.","Cree A.","Ding Y.","Dugan-Rocha S.","Gill R.","Gunaratne P.","Harris R.A.","Hawes A.C.","Hernandez J.","Hodgson A.V.","Hume J.","Jackson A.","Khan Z.M.","Kovar-Smith C.","Lewis L.R.","Lozado R.J.","Metzker M.L.","Milosavljevic A.","Miner G.R.","Morgan M.B.","Nazareth L.V.","Scott G.","Sodergren E.","Song X.-Z.","Steffen D.","Wei S.","Wheeler D.A.","Wright M.W.","Worley K.C.","Yuan Y.","Zhang Z.","Adams C.Q.","Ansari-Lari M.A.","Ayele M.","Brown M.J.","Chen G.","Chen Z.","Clendenning J.","Clerc-Blankenburg K.P.","Chen R.","Chen Z.","Davis C.","Delgado O.","Dinh H.H.","Dong W.","Draper H.","Ernst S.","Fu G.","Gonzalez-Garay M.L.","Garcia D.K.","Gillett W.","Gu J.","Hao B.","Haugen E.","Havlak P.","He X.","Hennig S.","Hu S.","Huang W.","Jackson L.R.","Jacob L.S.","Kelly S.H.","Kube M.","Levy R.","Li Z.","Liu B.","Liu J.","Liu W.","Lu J.","Maheshwari M.","Nguyen B.-V.","Okwuonu G.O.","Palmeiri A.","Pasternak S.","Perez L.M.","Phelps K.A.","Plopper F.J.","Qiang B.","Raymond C.","Rodriguez R.","Saenphimmachak C.","Santibanez J.","Shen H.","Shen Y.","Subramanian S.","Tabor P.E.","Verduzco D.","Waldron L.","Wang J.","Wang J.","Wang Q.","Williams G.A.","Wong G.K.-S.","Yao Z.","Zhang J.","Zhang X.","Zhao G.","Zhou J.","Zhou Y.","Nelson D.","Lehrach H.","Reinhardt R.","Naylor S.L.","Yang H.","Olson M.","Weinstock G.","Gibbs R.A."],"citationCrossReferences":[{"database":"PubMed","id":"16641997"},{"database":"DOI","id":"10.1038/nature04728"}],"title":"The DNA sequence, annotation and analysis of human chromosome 3.","publicationDate":"2006","journal":"Nature","firstPage":"1194","lastPage":"1198","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":5,"citation":{"id":"12533095","citationType":"journal article","authors":["Einum D.D.","Clark A.M.","Townsend J.J.","Ptacek L.J.","Fu Y.H."],"citationCrossReferences":[{"database":"PubMed","id":"12533095"},{"database":"DOI","id":"10.1001/archneur.60.1.97"}],"title":"A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product.","publicationDate":"2003","journal":"Arch. Neurol.","firstPage":"97","lastPage":"103","volume":"60"},"referencePositions":["ALTERNATIVE SPLICING (ISOFORMS A AND B)","SUBCELLULAR LOCATION","TISSUE SPECIFICITY"],"referenceComments":[{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"10441328","citationType":"journal article","authors":["Kaytor M.D.","Duvick L.A.","Skinner P.J.","Koob M.D.","Ranum L.P.","Orr H.T."],"citationCrossReferences":[{"database":"PubMed","id":"10441328"},{"database":"DOI","id":"10.1093/hmg/8.9.1657"}],"title":"Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7.","publicationDate":"1999","journal":"Hum. Mol. Genet.","firstPage":"1657","lastPage":"1664","volume":"8"},"referencePositions":["SUBCELLULAR LOCATION"]},{"referenceNumber":7,"citation":{"id":"11371513","citationType":"journal article","authors":["Lebre A.-S.","Jamot L.","Takahashi J.","Spassky N.","Leprince C.","Ravise N.","Zander C.","Fujigasaki H.","Kussel-Andermann P.","Duyckaerts C.","Camonis J.H.","Brice A."],"citationCrossReferences":[{"database":"PubMed","id":"11371513"},{"database":"DOI","id":"10.1093/hmg/10.11.1201"}],"title":"Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions.","publicationDate":"2001","journal":"Hum. Mol. Genet.","firstPage":"1201","lastPage":"1213","volume":"10"},"referencePositions":["INTERACTION WITH SORBS1"]},{"referenceNumber":8,"citation":{"id":"11734547","citationType":"journal article","authors":["Matilla A.","Gorbea C.","Einum D.D.","Townsend J.","Michalik A.","van Broeckhoven C.","Jensen C.C.","Murphy K.J.","Ptacek L.J.","Fu Y.H."],"citationCrossReferences":[{"database":"PubMed","id":"11734547"},{"database":"DOI","id":"10.1093/hmg/10.24.2821"}],"title":"Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex.","publicationDate":"2001","journal":"Hum. Mol. Genet.","firstPage":"2821","lastPage":"2831","volume":"10"},"referencePositions":["INTERACTION WITH PSMC1"]},{"referenceNumber":9,"citation":{"id":"15115762","citationType":"journal article","authors":["Helmlinger D.","Hardy S.","Sasorith S.","Klein F.","Robert F.","Weber C.","Miguet L.","Potier N.","Van-Dorsselaer A.","Wurtz J.M.","Mandel J.L.","Tora L.","Devys D."],"citationCrossReferences":[{"database":"PubMed","id":"15115762"},{"database":"DOI","id":"10.1093/hmg/ddh139"}],"title":"Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.","publicationDate":"2004","journal":"Hum. Mol. Genet.","firstPage":"1257","lastPage":"1265","volume":"13"},"referencePositions":["INTERACTION WITH TRRAP; GCN5L2 AND TAF10"]},{"referenceNumber":10,"citation":{"id":"15932940","citationType":"journal article","authors":["Palhan V.B.","Chen S.","Peng G.H.","Tjernberg A.","Gamper A.M.","Fan Y.","Chait B.T.","La Spada A.R.","Roeder R.G."],"citationCrossReferences":[{"database":"PubMed","id":"15932940"},{"database":"DOI","id":"10.1073/pnas.0503505102"}],"title":"Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration.","publicationDate":"2005","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"8472","lastPage":"8477","volume":"102"},"referencePositions":["FUNCTION","IDENTIFICATION IN THE STAGA COMPLEX"]},{"referenceNumber":11,"citation":{"id":"16314424","citationType":"journal article","authors":["Taylor J.","Grote S.K.","Xia J.","Vandelft M.","Graczyk J.","Ellerby L.M.","La Spada A.R.","Truant R."],"citationCrossReferences":[{"database":"PubMed","id":"16314424"},{"database":"DOI","id":"10.1074/jbc.m506751200"}],"title":"Ataxin-7 can export from the nucleus via a conserved exportin-dependent signal.","publicationDate":"2006","journal":"J. Biol. Chem.","firstPage":"2730","lastPage":"2739","volume":"281"},"referencePositions":["SUBCELLULAR LOCATION"]},{"referenceNumber":12,"citation":{"id":"17646170","citationType":"journal article","authors":["Young J.E.","Gouw L.","Propp S.","Sopher B.L.","Taylor J.","Lin A.","Hermel E.","Logvinova A.","Chen S.F.","Chen S.","Bredesen D.E.","Truant R.","Ptacek L.J.","La Spada A.R.","Ellerby L.M."],"citationCrossReferences":[{"database":"PubMed","id":"17646170"},{"database":"DOI","id":"10.1074/jbc.m705265200"}],"title":"Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation.","publicationDate":"2007","journal":"J. Biol. Chem.","firstPage":"30150","lastPage":"30160","volume":"282"},"referencePositions":["PROTEOLYTIC CLEAVAGE","MUTAGENESIS OF ASP-266 AND ASP-344"]},{"referenceNumber":13,"citation":{"id":"18206972","citationType":"journal article","authors":["Zhao Y.","Lang G.","Ito S.","Bonnet J.","Metzger E.","Sawatsubashi S.","Suzuki E.","Le Guezennec X.","Stunnenberg H.G.","Krasnov A.","Georgieva S.G.","Schuele R.","Takeyama K.","Kato S.","Tora L.","Devys D."],"citationCrossReferences":[{"database":"PubMed","id":"18206972"},{"database":"DOI","id":"10.1016/j.molcel.2007.12.011"}],"title":"A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing.","publicationDate":"2008","journal":"Mol. Cell","firstPage":"92","lastPage":"101","volume":"29"},"referencePositions":["FUNCTION","IDENTIFICATION IN STAGA COMPLEX"]},{"referenceNumber":14,"citation":{"id":"19843541","citationType":"journal article","authors":["Janer A.","Werner A.","Takahashi-Fujigasaki J.","Daret A.","Fujigasaki H.","Takada K.","Duyckaerts C.","Brice A.","Dejean A.","Sittler A."],"citationCrossReferences":[{"database":"PubMed","id":"19843541"},{"database":"DOI","id":"10.1093/hmg/ddp478"}],"title":"SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7.","publicationDate":"2010","journal":"Hum. Mol. Genet.","firstPage":"181","lastPage":"195","volume":"19"},"referencePositions":["SUMOYLATION AT LYS-257","MUTAGENESIS OF LYS-257 AND LYS-858"]},{"referenceNumber":15,"citation":{"id":"22100762","citationType":"journal article","authors":["Nakamura Y.","Tagawa K.","Oka T.","Sasabe T.","Ito H.","Shiwaku H.","La Spada A.R.","Okazawa H."],"citationCrossReferences":[{"database":"PubMed","id":"22100762"},{"database":"DOI","id":"10.1093/hmg/ddr539"}],"title":"Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network.","publicationDate":"2012","journal":"Hum. Mol. Genet.","firstPage":"1099","lastPage":"1110","volume":"21"},"referencePositions":["FUNCTION","INTERACTION WITH ALPHA TUBULIN","SUBCELLULAR LOCATION"]},{"referenceNumber":16,"citation":{"id":"24493646","citationType":"journal article","authors":["Mohan R.D.","Dialynas G.","Weake V.M.","Liu J.","Martin-Brown S.","Florens L.","Washburn M.P.","Workman J.L.","Abmayr S.M."],"citationCrossReferences":[{"database":"PubMed","id":"24493646"},{"database":"DOI","id":"10.1101/gad.225151.113"}],"title":"Loss of Drosophila Ataxin-7, a SAGA subunit, reduces H2B ubiquitination and leads to neural and retinal degeneration.","publicationDate":"2014","journal":"Genes Dev.","firstPage":"259","lastPage":"272","volume":"28"},"referencePositions":["FUNCTION"]},{"referenceNumber":17,"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-257","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AJ000517","properties":[{"key":"ProteinId","value":"CAA04154.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF032102","properties":[{"key":"ProteinId","value":"AAC19162.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AF032103","properties":[{"key":"ProteinId","value":"AAC19163.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AF032105","properties":[{"key":"ProteinId","value":"AAC39765.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK304062","properties":[{"key":"ProteinId","value":"BAG64969.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC012557","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC104162","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AA398030","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS43102.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O15265-1"},{"database":"CCDS","id":"CCDS46861.2","properties":[{"key":"Description","value":"-"}],"isoformId":"O15265-3"},{"database":"CCDS","id":"CCDS54603.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O15265-2"},{"database":"PIR","id":"T09193","properties":[{"key":"EntryName","value":"T09193"}]},{"database":"RefSeq","id":"NP_000324.1","properties":[{"key":"NucleotideSequenceId","value":"NM_000333.4"}],"isoformId":"O15265-1"},{"database":"RefSeq","id":"NP_001121621.2","properties":[{"key":"NucleotideSequenceId","value":"NM_001128149.3"}],"isoformId":"O15265-3"},{"database":"RefSeq","id":"NP_001170858.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001177387.1"}],"isoformId":"O15265-2"},{"database":"RefSeq","id":"NP_001364334.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001377405.1"}],"isoformId":"O15265-1"},{"database":"RefSeq","id":"NP_001364335.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001377406.1"}],"isoformId":"O15265-1"},{"database":"PDB","id":"2KKR","properties":[{"key":"Method","value":"NMR"},{"key":"Resolution","value":"-"},{"key":"Chains","value":"A=330-401"}]},{"database":"PDB","id":"7KTR","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"2.93 A"},{"key":"Chains","value":"N=1-892"}]},{"database":"PDB","id":"7KTS","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"19.09 A"},{"key":"Chains","value":"N=1-892"}]},{"database":"PDB","id":"8H7G","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.70 A"},{"key":"Chains","value":"L=1-892"}]},{"database":"PDB","id":"9RDK","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"2.41 A"},{"key":"Chains","value":"N=1-892"}]},{"database":"PDBsum","id":"2KKR","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7KTR","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7KTS","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8H7G","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9RDK","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"BMRB","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23027","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-23028","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-34520","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-53937","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"112221","properties":[{"key":"Interactions","value":"120"}]},{"database":"ComplexPortal","id":"CPX-6802","properties":[{"key":"EntryName","value":"SAGA complex, KAT2B variant"}]},{"database":"ComplexPortal","id":"CPX-900","properties":[{"key":"EntryName","value":"SAGA complex, KAT2A variant"}]},{"database":"ComplexPortal","id":"CPX-903","properties":[{"key":"EntryName","value":"TFTC histone acetylation complex"}]},{"database":"CORUM","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"O15265","properties":[{"key":"Number of interactors","value":"2409"}]},{"database":"IntAct","id":"O15265","properties":[{"key":"Interactions","value":"85"}]},{"database":"MINT","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"MUSIC2-C5279-ATXN7","properties":[{"key":"Evidences","value":"Osteosarcoma (U2OS) cell map - SAGA complex (10 proteins)"}]},{"database":"STRING","id":"9606.ENSP00000295900","properties":[{"key":"Description","value":"-"}]},{"database":"GlyCosmos","id":"O15265","properties":[{"key":"glycosylation","value":"1 site, 2 glycans"}]},{"database":"GlyGen","id":"O15265","properties":[{"key":"glycosylation","value":"3 sites, 2 O-linked glycans (1 site)"}]},{"database":"iPTMnet","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"SwissPalm","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"ATXN7","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000295900","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"20578","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"48553","properties":[{"key":"Description","value":"-"}],"isoformId":"O15265-1"},{"database":"ProteomicsDB","id":"48554","properties":[{"key":"Description","value":"-"}],"isoformId":"O15265-2"},{"database":"Pumba","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"TopDownProteomics","id":"O15265-2","properties":[{"key":"Description","value":"-"}],"isoformId":"O15265-2"},{"database":"Antibodypedia","id":"7629","properties":[{"key":"antibodies","value":"163 antibodies from 33 providers"}]},{"database":"DNASU","id":"6314","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000295900.10","properties":[{"key":"ProteinId","value":"ENSP00000295900.6"},{"key":"GeneId","value":"ENSG00000163635.21"}],"isoformId":"O15265-1"},{"database":"Ensembl","id":"ENST00000484332.1","properties":[{"key":"ProteinId","value":"ENSP00000428277.1"},{"key":"GeneId","value":"ENSG00000163635.21"}],"isoformId":"O15265-3"},{"database":"Ensembl","id":"ENST00000487717.5","properties":[{"key":"ProteinId","value":"ENSP00000420234.1"},{"key":"GeneId","value":"ENSG00000163635.21"}],"isoformId":"O15265-1"},{"database":"Ensembl","id":"ENST00000522345.2","properties":[{"key":"ProteinId","value":"ENSP00000428067.2"},{"key":"GeneId","value":"ENSG00000163635.21"}],"isoformId":"O15265-2"},{"database":"Ensembl","id":"ENST00000674280.1","properties":[{"key":"ProteinId","value":"ENSP00000501377.1"},{"key":"GeneId","value":"ENSG00000163635.21"}],"isoformId":"O15265-1"},{"database":"GeneID","id":"6314","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:6314","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000674280.1","properties":[{"key":"ProteinId","value":"ENSP00000501377.1"},{"key":"RefSeqNucleotideId","value":"NM_001377405.1"},{"key":"RefSeqProteinId","value":"NP_001364334.1"}]},{"database":"UCSC","id":"uc003dlw.5","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"O15265-1"},{"database":"AGR","id":"HGNC:10560","properties":[{"key":"Description","value":"-"}]},{"database":"CIViC","id":"6314","properties":[{"key":"Number of evidences","value":"4 evidence items across 5 molecular profiles"}]},{"database":"ClinPGx","id":"PA34973","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"6314","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"6314","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"ATXN7","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"ATXN7","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:10560","properties":[{"key":"GeneName","value":"ATXN7"}]},{"database":"HPA","id":"ENSG00000163635","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"ATXN7","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"164500","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"607640","properties":[{"key":"Type","value":"gene"}]},{"database":"OpenTargets","id":"ENSG00000163635","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"94147","properties":[{"key":"Disease","value":"Spinocerebellar ataxia type 7"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000163635","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG4140","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000157279","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_014451_1_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"NNVHTKH","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"21678at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"O15265","properties":[{"key":"Number of GO annotations","value":"0 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-3214847","properties":[{"key":"PathwayName","value":"HATs acetylate histones"}]},{"database":"Reactome","id":"R-HSA-5689880","properties":[{"key":"PathwayName","value":"Ub-specific processing proteases"}]},{"database":"SignaLink","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000163635","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"6314","properties":[{"key":"hits","value":"25 hits in 1170 CRISPR screens"}]},{"database":"ChiTaRS","id":"ATXN7","properties":[{"key":"OrganismName","value":"human"}]},{"database":"EvolutionaryTrace","id":"O15265","properties":[{"key":"Description","value":"-"}]},{"database":"GenomeRNAi","id":"6314","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"O15265","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:O15265","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 3"}]},{"database":"RNAct","id":"O15265","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000163635","properties":[{"key":"ExpressionPatterns","value":"Expressed in mucosa of paranasal sinus and 206 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"O15265","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005737","properties":[{"key":"GoTerm","value":"C:cytoplasm"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"12533095"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0015630","properties":[{"key":"GoTerm","value":"C:microtubule cytoskeleton"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22100762"}]},{"database":"GO","id":"GO:0016363","properties":[{"key":"GoTerm","value":"C:nuclear matrix"},{"key":"GoEvidenceType","value":"EXP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"10441328"}]},{"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:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"22100762"}]},{"database":"GO","id":"GO:0000124","properties":[{"key":"GoTerm","value":"C:SAGA complex"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"19114550"}]},{"database":"GO","id":"GO:0033276","properties":[{"key":"GoTerm","value":"C:transcription factor TFTC complex"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10373431"}]},{"database":"GO","id":"GO:0003682","properties":[{"key":"GoTerm","value":"F:chromatin binding"},{"key":"GoEvidenceType","value":"IEA:Ensembl"}]},{"database":"GO","id":"GO:0000226","properties":[{"key":"GoTerm","value":"P:microtubule cytoskeleton organization"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"22100762"}]},{"database":"GO","id":"GO:0007026","properties":[{"key":"GoTerm","value":"P:negative regulation of microtubule depolymerization"},{"key":"GoEvidenceType","value":"IMP:CACAO"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"22100762"}]},{"database":"GO","id":"GO:0006997","properties":[{"key":"GoTerm","value":"P:nucleus organization"},{"key":"GoEvidenceType","value":"TAS:ProtInc"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"10441328"}]},{"database":"GO","id":"GO:0045893","properties":[{"key":"GoTerm","value":"P:positive regulation of DNA-templated transcription"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"18206972"}]},{"database":"GO","id":"GO:0045944","properties":[{"key":"GoTerm","value":"P:positive regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0006282","properties":[{"key":"GoTerm","value":"P:regulation of DNA repair"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11406595"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11564863"}]},{"database":"GO","id":"GO:0043484","properties":[{"key":"GoTerm","value":"P:regulation of RNA splicing"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"11564863"}]},{"database":"GO","id":"GO:0006357","properties":[{"key":"GoTerm","value":"P:regulation of transcription by RNA polymerase II"},{"key":"GoEvidenceType","value":"IDA:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"9603525"}]},{"database":"GO","id":"GO:0007601","properties":[{"key":"GoTerm","value":"P:visual perception"},{"key":"GoEvidenceType","value":"TAS:ProtInc"}],"evidences":[{"evidenceCode":"ECO:0000304","source":"PubMed","id":"9288099"}]},{"database":"Gene3D","id":"6.10.140.670","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR052237","properties":[{"key":"EntryName","value":"Ataxin-7-like_regulator"}]},{"database":"InterPro","id":"IPR013243","properties":[{"key":"EntryName","value":"SCA7_dom"}]},{"database":"PANTHER","id":"PTHR15117","properties":[{"key":"EntryName","value":"ATAXIN 7 RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR15117:SF2","properties":[{"key":"EntryName","value":"ATAXIN-7"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF08313","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51505","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP","length":892,"molWeight":95451,"crc64":"9AEA787D77103C5F","md5":"66E2C9C4895DAA12547A26C4014A8CC3"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":13,"SUBCELLULAR LOCATION":2,"ALTERNATIVE PRODUCTS":3,"TISSUE SPECIFICITY":2,"PTM":2,"POLYMORPHISM":1,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Chain":1,"Domain":1,"Region":6,"Compositional bias":16,"Site":2,"Cross-link":2,"Alternative sequence":2,"Natural variant":4,"Mutagenesis":4,"Sequence conflict":3,"Turn":2,"Helix":3,"Beta strand":4},"uniParcId":"UPI0000126640"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8U085","uniProtkbId":"A0ACI8U085_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000609033.1"},{"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":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000609033.1"}],"value":"Ataxin 7"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000609033.1"}],"value":"ATXN7"}}],"features":[{"type":"Domain","location":{"start":{"value":332,"modifier":"EXACT"},"end":{"value":399,"modifier":"EXACT"}},"description":"SCA7","evidences":[{"evidenceCode":"ECO:0000259","source":"PROSITE","id":"PS51505"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":74,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":193,"modifier":"EXACT"},"end":{"value":245,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":296,"modifier":"EXACT"},"end":{"value":326,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":387,"modifier":"EXACT"},"end":{"value":503,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":614,"modifier":"EXACT"},"end":{"value":728,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":832,"modifier":"EXACT"},"end":{"value":890,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":15,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":38,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":55,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":193,"modifier":"EXACT"},"end":{"value":220,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":316,"modifier":"EXACT"},"end":{"value":325,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":387,"modifier":"EXACT"},"end":{"value":401,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":403,"modifier":"EXACT"},"end":{"value":417,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":446,"modifier":"EXACT"},"end":{"value":456,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":466,"modifier":"EXACT"},"end":{"value":481,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":500,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":614,"modifier":"EXACT"},"end":{"value":627,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":638,"modifier":"EXACT"},"end":{"value":667,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":668,"modifier":"EXACT"},"end":{"value":678,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":683,"modifier":"EXACT"},"end":{"value":693,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":714,"modifier":"EXACT"},"end":{"value":728,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":838,"modifier":"EXACT"},"end":{"value":849,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8U085"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8U085"}],"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"}],"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":"ENSP00000609033.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"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":"ENSP00000609033.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"16641997","citationType":"journal article","authors":["Muzny D.M.","Scherer S.E.","Kaul R.","Wang J.","Yu J.","Sudbrak R.","Buhay C.J.","Chen R.","Cree A.","Ding Y.","Dugan-Rocha S.","Gill R.","Gunaratne P.","Harris R.A.","Hawes A.C.","Hernandez J.","Hodgson A.V.","Hume J.","Jackson A.","Khan Z.M.","Kovar-Smith C.","Lewis L.R.","Lozado R.J.","Metzker M.L.","Milosavljevic A.","Miner G.R.","Morgan M.B.","Nazareth L.V.","Scott G.","Sodergren E.","Song X.Z.","Steffen D.","Wei S.","Wheeler D.A.","Wright M.W.","Worley K.C.","Yuan Y.","Zhang Z.","Adams C.Q.","Ansari-Lari M.A.","Ayele M.","Brown M.J.","Chen G.","Chen Z.","Clendenning J.","Clerc-Blankenburg K.P.","Chen R.","Chen Z.","Davis C.","Delgado O.","Dinh H.H.","Dong W.","Draper H.","Ernst S.","Fu G.","Gonzalez-Garay M.L.","Garcia D.K.","Gillett W.","Gu J.","Hao B.","Haugen E.","Havlak P.","He X.","Hennig S.","Hu S.","Huang W.","Jackson L.R.","Jacob L.S.","Kelly S.H.","Kube M.","Levy R.","Li Z.","Liu B.","Liu J.","Liu W.","Lu J.","Maheshwari M.","Nguyen B.V.","Okwuonu G.O.","Palmeiri A.","Pasternak S.","Perez L.M.","Phelps K.A.","Plopper F.J.","Qiang B.","Raymond C.","Rodriguez R.","Saenphimmachak C.","Santibanez J.","Shen H.","Shen Y.","Subramanian S.","Tabor P.E.","Verduzco D.","Waldron L.","Wang J.","Wang J.","Wang Q.","Williams G.A.","Wong G.K.","Yao Z.","Zhang J.","Zhang X.","Zhao G.","Zhou J.","Zhou Y.","Nelson D.","Lehrach H.","Reinhardt R.","Naylor S.L.","Yang H.","Olson M.","Weinstock G.","Gibbs R.A."],"citationCrossReferences":[{"database":"PubMed","id":"16641997"},{"database":"DOI","id":"10.1038/nature04728"}],"title":"The DNA sequence, annotation and analysis of human chromosome 3.","publicationDate":"2006","journal":"Nature","firstPage":"1194","lastPage":"1198","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000609033.1"},{"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":"ENSP00000609033.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC012557","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC104162","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000938974.1","properties":[{"key":"ProteinId","value":"ENSP00000609033.1"},{"key":"GeneId","value":"ENSG00000163635.21"}]},{"database":"HGNC","id":"HGNC:10560","properties":[{"key":"GeneName","value":"ATXN7"}]},{"database":"OpenTargets","id":"ENSG00000163635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000157279","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 3"}]},{"database":"Gene3D","id":"6.10.140.670","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR052237","properties":[{"key":"EntryName","value":"Ataxin-7-like_regulator"}]},{"database":"InterPro","id":"IPR013243","properties":[{"key":"EntryName","value":"SCA7_dom"}]},{"database":"PANTHER","id":"PTHR15117","properties":[{"key":"EntryName","value":"ATAXIN 7 RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR15117:SF2","properties":[{"key":"EntryName","value":"ATAXIN-7"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF08313","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51505","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP","length":890,"molWeight":95293,"crc64":"6CD435E978D89AE9","md5":"FA43F9495EBB59C769F1234BC59D55FF"},"extraAttributes":{"countByFeatureType":{"Domain":1,"Region":6,"Compositional bias":16},"uniParcId":"UPI0040324C00"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A2R8YDD6","uniProtkbId":"A0A2R8YDD6_HUMAN","entryAudit":{"firstPublicDate":"2018-06-20","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2018-06-20","entryVersion":38,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493724.1"},{"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":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493724.1"}],"value":"Ataxin 7"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493724.1"}],"value":"ATXN7"}}],"features":[{"type":"Domain","location":{"start":{"value":334,"modifier":"EXACT"},"end":{"value":401,"modifier":"EXACT"}},"description":"SCA7","evidences":[{"evidenceCode":"ECO:0000259","source":"PROSITE","id":"PS51505"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":74,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":195,"modifier":"EXACT"},"end":{"value":247,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":298,"modifier":"EXACT"},"end":{"value":328,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":505,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":616,"modifier":"EXACT"},"end":{"value":730,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":818,"modifier":"EXACT"},"end":{"value":856,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":15,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":38,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":55,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":195,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":318,"modifier":"EXACT"},"end":{"value":327,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":389,"modifier":"EXACT"},"end":{"value":403,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":405,"modifier":"EXACT"},"end":{"value":419,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":448,"modifier":"EXACT"},"end":{"value":458,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":468,"modifier":"EXACT"},"end":{"value":483,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":493,"modifier":"EXACT"},"end":{"value":502,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":616,"modifier":"EXACT"},"end":{"value":629,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":640,"modifier":"EXACT"},"end":{"value":669,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":670,"modifier":"EXACT"},"end":{"value":680,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":685,"modifier":"EXACT"},"end":{"value":695,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":716,"modifier":"EXACT"},"end":{"value":730,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":840,"modifier":"EXACT"},"end":{"value":851,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0A2R8YDD6"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0A2R8YDD6"}],"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"}],"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":"ENSP00000493724.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"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":"ENSP00000493724.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"16641997","citationType":"journal article","authors":["Muzny D.M.","Scherer S.E.","Kaul R.","Wang J.","Yu J.","Sudbrak R.","Buhay C.J.","Chen R.","Cree A.","Ding Y.","Dugan-Rocha S.","Gill R.","Gunaratne P.","Harris R.A.","Hawes A.C.","Hernandez J.","Hodgson A.V.","Hume J.","Jackson A.","Khan Z.M.","Kovar-Smith C.","Lewis L.R.","Lozado R.J.","Metzker M.L.","Milosavljevic A.","Miner G.R.","Morgan M.B.","Nazareth L.V.","Scott G.","Sodergren E.","Song X.Z.","Steffen D.","Wei S.","Wheeler D.A.","Wright M.W.","Worley K.C.","Yuan Y.","Zhang Z.","Adams C.Q.","Ansari-Lari M.A.","Ayele M.","Brown M.J.","Chen G.","Chen Z.","Clendenning J.","Clerc-Blankenburg K.P.","Chen R.","Chen Z.","Davis C.","Delgado O.","Dinh H.H.","Dong W.","Draper H.","Ernst S.","Fu G.","Gonzalez-Garay M.L.","Garcia D.K.","Gillett W.","Gu J.","Hao B.","Haugen E.","Havlak P.","He X.","Hennig S.","Hu S.","Huang W.","Jackson L.R.","Jacob L.S.","Kelly S.H.","Kube M.","Levy R.","Li Z.","Liu B.","Liu J.","Liu W.","Lu J.","Maheshwari M.","Nguyen B.V.","Okwuonu G.O.","Palmeiri A.","Pasternak S.","Perez L.M.","Phelps K.A.","Plopper F.J.","Qiang B.","Raymond C.","Rodriguez R.","Saenphimmachak C.","Santibanez J.","Shen H.","Shen Y.","Subramanian S.","Tabor P.E.","Verduzco D.","Waldron L.","Wang J.","Wang J.","Wang Q.","Williams G.A.","Wong G.K.","Yao Z.","Zhang J.","Zhang X.","Zhao G.","Zhou J.","Zhou Y.","Nelson D.","Lehrach H.","Reinhardt R.","Naylor S.L.","Yang H.","Olson M.","Weinstock G.","Gibbs R.A."],"citationCrossReferences":[{"database":"PubMed","id":"16641997"},{"database":"DOI","id":"10.1038/nature04728"}],"title":"The DNA sequence, annotation and analysis of human chromosome 3.","publicationDate":"2006","journal":"Nature","firstPage":"1194","lastPage":"1198","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493724.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":4,"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"}],"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":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"evidences":[{"evidenceCode":"ECO:0007829","source":"PubMed","id":"28112733"}]},{"referenceNumber":5,"citation":{"id":"CI-20IM145UGQVF7","citationType":"submission","authoringGroup":["Ensembl"],"publicationDate":"JAN-2026","submissionDatabase":"UniProtKB"},"referencePositions":["IDENTIFICATION"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000493724.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC012557","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC104162","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A2R8YDD6","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"A0A2R8YDD6","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"7629","properties":[{"key":"antibodies","value":"163 antibodies from 33 providers"}]},{"database":"Ensembl","id":"ENST00000474112.5","properties":[{"key":"ProteinId","value":"ENSP00000493724.1"},{"key":"GeneId","value":"ENSG00000163635.21"}]},{"database":"HGNC","id":"HGNC:10560","properties":[{"key":"GeneName","value":"ATXN7"}]},{"database":"OpenTargets","id":"ENSG00000163635","properties":[{"key":"Description","value":"-"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000163635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000157279","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"21678at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"ATXN7","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 3"}]},{"database":"Bgee","id":"ENSG00000163635","properties":[{"key":"ExpressionPatterns","value":"Expressed in mucosa of paranasal sinus and 206 other cell types or tissues"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"Gene3D","id":"6.10.140.670","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR052237","properties":[{"key":"EntryName","value":"Ataxin-7-like_regulator"}]},{"database":"InterPro","id":"IPR013243","properties":[{"key":"EntryName","value":"SCA7_dom"}]},{"database":"PANTHER","id":"PTHR15117","properties":[{"key":"EntryName","value":"ATAXIN 7 RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR15117:SF2","properties":[{"key":"EntryName","value":"ATAXIN-7"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF08313","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51505","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFGKNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQVGNGL","length":892,"molWeight":95342,"crc64":"8AB601E632B03C5F","md5":"D9B5DA8B29AE6844D6C27A3FC5607282"},"extraAttributes":{"countByFeatureType":{"Domain":1,"Region":6,"Compositional bias":16},"uniParcId":"UPI0000E5A781"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0A1B0GX67","uniProtkbId":"A0A1B0GX67_HUMAN","entryAudit":{"firstPublicDate":"2016-10-05","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2016-10-05","entryVersion":43,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000418203.2"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"4: Predicted","proteinDescription":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000418203.2"}],"value":"Ataxin 7"}}],"flag":"Fragment"},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000418203.2"}],"value":"ATXN7"}}],"features":[{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":15,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Non-terminal residue","location":{"start":{"value":25,"modifier":"EXACT"},"end":{"value":25,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000418203.2"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}],"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"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":"ENSP00000418203.2"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"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":"ENSP00000418203.2"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"16641997","citationType":"journal article","authors":["Muzny D.M.","Scherer S.E.","Kaul R.","Wang J.","Yu J.","Sudbrak R.","Buhay C.J.","Chen R.","Cree A.","Ding Y.","Dugan-Rocha S.","Gill R.","Gunaratne P.","Harris R.A.","Hawes A.C.","Hernandez J.","Hodgson A.V.","Hume J.","Jackson A.","Khan Z.M.","Kovar-Smith C.","Lewis L.R.","Lozado R.J.","Metzker M.L.","Milosavljevic A.","Miner G.R.","Morgan M.B.","Nazareth L.V.","Scott G.","Sodergren E.","Song X.Z.","Steffen D.","Wei S.","Wheeler D.A.","Wright M.W.","Worley K.C.","Yuan Y.","Zhang Z.","Adams C.Q.","Ansari-Lari M.A.","Ayele M.","Brown M.J.","Chen G.","Chen Z.","Clendenning J.","Clerc-Blankenburg K.P.","Chen R.","Chen Z.","Davis C.","Delgado O.","Dinh H.H.","Dong W.","Draper H.","Ernst S.","Fu G.","Gonzalez-Garay M.L.","Garcia D.K.","Gillett W.","Gu J.","Hao B.","Haugen E.","Havlak P.","He X.","Hennig S.","Hu S.","Huang W.","Jackson L.R.","Jacob L.S.","Kelly S.H.","Kube M.","Levy R.","Li Z.","Liu B.","Liu J.","Liu W.","Lu J.","Maheshwari M.","Nguyen B.V.","Okwuonu G.O.","Palmeiri A.","Pasternak S.","Perez L.M.","Phelps K.A.","Plopper F.J.","Qiang B.","Raymond C.","Rodriguez R.","Saenphimmachak C.","Santibanez J.","Shen H.","Shen Y.","Subramanian S.","Tabor P.E.","Verduzco D.","Waldron L.","Wang J.","Wang J.","Wang Q.","Williams G.A.","Wong G.K.","Yao Z.","Zhang J.","Zhang X.","Zhao G.","Zhou J.","Zhou Y.","Nelson D.","Lehrach H.","Reinhardt R.","Naylor S.L.","Yang H.","Olson M.","Weinstock G.","Gibbs R.A."],"citationCrossReferences":[{"database":"PubMed","id":"16641997"},{"database":"DOI","id":"10.1038/nature04728"}],"title":"The DNA sequence, annotation and analysis of human chromosome 3.","publicationDate":"2006","journal":"Nature","firstPage":"1194","lastPage":"1198","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000418203.2"},{"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":"ENSP00000418203.2"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC012557","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC104162","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"A0A1B0GX67","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"7629","properties":[{"key":"antibodies","value":"163 antibodies from 33 providers"}]},{"database":"Ensembl","id":"ENST00000474513.6","properties":[{"key":"ProteinId","value":"ENSP00000418203.2"},{"key":"GeneId","value":"ENSG00000163635.21"}]},{"database":"HGNC","id":"HGNC:10560","properties":[{"key":"GeneName","value":"ATXN7"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000163635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000157279","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"NNVHTKH","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"21678at2759","properties":[{"key":"Description","value":"-"}]},{"database":"ChiTaRS","id":"ATXN7","properties":[{"key":"OrganismName","value":"human"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 3"}]},{"database":"Bgee","id":"ENSG00000163635","properties":[{"key":"ExpressionPatterns","value":"Expressed in mucosa of paranasal sinus and 206 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"A0A1B0GX67","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0005829","properties":[{"key":"GoTerm","value":"C:cytosol"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]}],"sequence":{"value":"MSERAADDVRGEPRRAAAAAGGAAA","length":25,"molWeight":2428,"crc64":"D31EE203172746E2","md5":"5989565346223C6BA8794F77D0A84317"},"extraAttributes":{"countByFeatureType":{"Region":1,"Compositional bias":2,"Non-terminal residue":1},"uniParcId":"UPI0003F47D8B"}},{"entryType":"UniProtKB unreviewed (TrEMBL)","primaryAccession":"A0ACI8RJY3","uniProtkbId":"A0ACI8RJY3_HUMAN","entryAudit":{"firstPublicDate":"2026-06-10","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2026-06-10","entryVersion":2,"sequenceVersion":1},"annotationScore":1.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575413.1"},{"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":{"submissionNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575413.1"}],"value":"Ataxin 7"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575413.1"}],"value":"ATXN7"}}],"features":[{"type":"Domain","location":{"start":{"value":311,"modifier":"EXACT"},"end":{"value":378,"modifier":"EXACT"}},"description":"SCA7","evidences":[{"evidenceCode":"ECO:0000259","source":"PROSITE","id":"PS51505"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":74,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":172,"modifier":"EXACT"},"end":{"value":223,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":275,"modifier":"EXACT"},"end":{"value":305,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":366,"modifier":"EXACT"},"end":{"value":482,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":593,"modifier":"EXACT"},"end":{"value":707,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":795,"modifier":"EXACT"},"end":{"value":869,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":15,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":16,"modifier":"EXACT"},"end":{"value":38,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":39,"modifier":"EXACT"},"end":{"value":55,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":172,"modifier":"EXACT"},"end":{"value":199,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":295,"modifier":"EXACT"},"end":{"value":304,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":366,"modifier":"EXACT"},"end":{"value":380,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":382,"modifier":"EXACT"},"end":{"value":396,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":425,"modifier":"EXACT"},"end":{"value":435,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":445,"modifier":"EXACT"},"end":{"value":460,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":470,"modifier":"EXACT"},"end":{"value":479,"modifier":"EXACT"}},"description":"Acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":593,"modifier":"EXACT"},"end":{"value":606,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":617,"modifier":"EXACT"},"end":{"value":646,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":647,"modifier":"EXACT"},"end":{"value":657,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":662,"modifier":"EXACT"},"end":{"value":672,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":693,"modifier":"EXACT"},"end":{"value":707,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":817,"modifier":"EXACT"},"end":{"value":828,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]}],"keywords":[{"evidences":[{"evidenceCode":"ECO:0007829","source":"PeptideAtlas","id":"A0ACI8RJY3"},{"evidenceCode":"ECO:0007829","source":"ProteomicsDB","id":"A0ACI8RJY3"}],"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"}],"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":"ENSP00000575413.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":2,"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":"ENSP00000575413.1"},{"evidenceCode":"ECO:0000313","source":"Proteomes","id":"UP000005640"}]},{"referenceNumber":3,"citation":{"id":"16641997","citationType":"journal article","authors":["Muzny D.M.","Scherer S.E.","Kaul R.","Wang J.","Yu J.","Sudbrak R.","Buhay C.J.","Chen R.","Cree A.","Ding Y.","Dugan-Rocha S.","Gill R.","Gunaratne P.","Harris R.A.","Hawes A.C.","Hernandez J.","Hodgson A.V.","Hume J.","Jackson A.","Khan Z.M.","Kovar-Smith C.","Lewis L.R.","Lozado R.J.","Metzker M.L.","Milosavljevic A.","Miner G.R.","Morgan M.B.","Nazareth L.V.","Scott G.","Sodergren E.","Song X.Z.","Steffen D.","Wei S.","Wheeler D.A.","Wright M.W.","Worley K.C.","Yuan Y.","Zhang Z.","Adams C.Q.","Ansari-Lari M.A.","Ayele M.","Brown M.J.","Chen G.","Chen Z.","Clendenning J.","Clerc-Blankenburg K.P.","Chen R.","Chen Z.","Davis C.","Delgado O.","Dinh H.H.","Dong W.","Draper H.","Ernst S.","Fu G.","Gonzalez-Garay M.L.","Garcia D.K.","Gillett W.","Gu J.","Hao B.","Haugen E.","Havlak P.","He X.","Hennig S.","Hu S.","Huang W.","Jackson L.R.","Jacob L.S.","Kelly S.H.","Kube M.","Levy R.","Li Z.","Liu B.","Liu J.","Liu W.","Lu J.","Maheshwari M.","Nguyen B.V.","Okwuonu G.O.","Palmeiri A.","Pasternak S.","Perez L.M.","Phelps K.A.","Plopper F.J.","Qiang B.","Raymond C.","Rodriguez R.","Saenphimmachak C.","Santibanez J.","Shen H.","Shen Y.","Subramanian S.","Tabor P.E.","Verduzco D.","Waldron L.","Wang J.","Wang J.","Wang Q.","Williams G.A.","Wong G.K.","Yao Z.","Zhang J.","Zhang X.","Zhao G.","Zhou J.","Zhou Y.","Nelson D.","Lehrach H.","Reinhardt R.","Naylor S.L.","Yang H.","Olson M.","Weinstock G.","Gibbs R.A."],"citationCrossReferences":[{"database":"PubMed","id":"16641997"},{"database":"DOI","id":"10.1038/nature04728"}],"title":"The DNA sequence, annotation and analysis of human chromosome 3.","publicationDate":"2006","journal":"Nature","firstPage":"1194","lastPage":"1198","volume":"440"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"],"evidences":[{"evidenceCode":"ECO:0000313","source":"Ensembl","id":"ENSP00000575413.1"},{"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":"ENSP00000575413.1"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AC012557","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AC104162","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"Ensembl","id":"ENST00000905354.1","properties":[{"key":"ProteinId","value":"ENSP00000575413.1"},{"key":"GeneId","value":"ENSG00000163635.21"}]},{"database":"HGNC","id":"HGNC:10560","properties":[{"key":"GeneName","value":"ATXN7"}]},{"database":"OpenTargets","id":"ENSG00000163635","properties":[{"key":"Description","value":"-"}]},{"database":"GeneTree","id":"ENSGT00940000157279","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 3"}]},{"database":"Gene3D","id":"6.10.140.670","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR052237","properties":[{"key":"EntryName","value":"Ataxin-7-like_regulator"}]},{"database":"InterPro","id":"IPR013243","properties":[{"key":"EntryName","value":"SCA7_dom"}]},{"database":"PANTHER","id":"PTHR15117","properties":[{"key":"EntryName","value":"ATAXIN 7 RELATED"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR15117:SF2","properties":[{"key":"EntryName","value":"ATAXIN-7"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF08313","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51505","properties":[{"key":"EntryName","value":"SCA7"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRPEDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAVPPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHPIQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTLPSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTRSLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPRTSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPPLPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRWNRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVSTSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLSSVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSSSSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPPTGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCSPSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP","length":869,"molWeight":92795,"crc64":"52CAD602E9EF1621","md5":"9D990AD44922848EF3CEBCBDEE5F2F9B"},"extraAttributes":{"countByFeatureType":{"Domain":1,"Region":6,"Compositional bias":16},"uniParcId":"UPI0003E6E4CA"}}]}