ID:ATX1_HUMAN DESCRIPTION: RecName: Full=Ataxin-1; AltName: Full=Spinocerebellar ataxia type 1 protein; FUNCTION: Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function. SUBUNIT: Homooligomer. Interacts with CIC (By similarity). Interacts with ANP32A, PQBP1, UBQLN4, ATXN1L, USP7 and ZNF804A. Directly interacts with RBPJ; this interaction is disrupted in the presence of Notch intracellular domain. Competes with ATXN1L for RBPJ-binding. INTERACTION: Self; NbExp=3; IntAct=EBI-930964, EBI-930964; Q99700:ATXN2; NbExp=4; IntAct=EBI-930964, EBI-697691; Q6P1W5:C1orf94; NbExp=3; IntAct=EBI-930964, EBI-946029; O75909:CCNK; NbExp=2; IntAct=EBI-930964, EBI-739806; P23528:CFL1; NbExp=5; IntAct=EBI-930964, EBI-352733; Q96RK0:CIC; NbExp=5; IntAct=EBI-930964, EBI-945857; P38432:COIL; NbExp=6; IntAct=EBI-930975, EBI-945751; Q8N684:CPSF7; NbExp=2; IntAct=EBI-930964, EBI-746909; P46108:CRK; NbExp=2; IntAct=EBI-930964, EBI-886; Q15038:DAZAP2; NbExp=2; IntAct=EBI-930964, EBI-724310; Q8TE02:DERP6; NbExp=2; IntAct=EBI-930964, EBI-946189; Q9UKJ3:GPATCH8; NbExp=4; IntAct=EBI-930964, EBI-948259; P15822:HIVEP1; NbExp=6; IntAct=EBI-930964, EBI-722264; Q9UBD0:HSFX2; NbExp=3; IntAct=EBI-930964, EBI-947253; P53990:IST1; NbExp=2; IntAct=EBI-930964, EBI-945994; Q92993:KAT5; NbExp=3; IntAct=EBI-930964, EBI-399080; Q53G59:KLHL12; NbExp=2; IntAct=EBI-930964, EBI-740929; Q9H7H0:METTL17; NbExp=5; IntAct=EBI-930964, EBI-749353; O43809:NUDT21; NbExp=2; IntAct=EBI-930964, EBI-355720; Q9HAU0:PLEKHA5; NbExp=2; IntAct=EBI-930964, EBI-945934; P48634:PRRC2A; NbExp=4; IntAct=EBI-930964, EBI-347545; Q9NWB1:RBFOX1; NbExp=2; IntAct=EBI-930964, EBI-945906; O43251:RBFOX2; NbExp=6; IntAct=EBI-930964, EBI-746056; Q93062:RBPMS; NbExp=3; IntAct=EBI-930964, EBI-740322; Q15293:RCN1; NbExp=3; IntAct=EBI-930964, EBI-948278; Q8N196:SIX5; NbExp=4; IntAct=EBI-930964, EBI-946167; Q9NX95:SYBU; NbExp=3; IntAct=EBI-930964, EBI-948293; Q92609:TBC1D5; NbExp=2; IntAct=EBI-930964, EBI-742381; Q12933:TRAF2; NbExp=2; IntAct=EBI-930964, EBI-355744; Q13049:TRIM32; NbExp=2; IntAct=EBI-930964, EBI-742790; P26368:U2AF2; NbExp=4; IntAct=EBI-930964, EBI-742339; Q9NRR5:UBQLN4; NbExp=6; IntAct=EBI-930964, EBI-711226; Q70EL1:USP54; NbExp=3; IntAct=EBI-930964, EBI-946185; Q96N03:VSTM2L; NbExp=3; IntAct=EBI-930964, EBI-948213; Q9H869:YY1AP1; NbExp=4; IntAct=EBI-930964, EBI-946122; Q96K80:ZC3H10; NbExp=3; IntAct=EBI-930964, EBI-742550; Q9UKY1:ZHX1; NbExp=5; IntAct=EBI-930964, EBI-347767; Q96MN9:ZNF488; NbExp=3; IntAct=EBI-930964, EBI-948288; SUBCELLULAR LOCATION: Cytoplasm (By similarity). Nucleus. Note=Colocalizes with USP7 in the nucleus. TISSUE SPECIFICITY: Widely expressed throughout the body. DOMAIN: The AXH domain is required for interaction with CIC (By similarity). PTM: Phosphorylation at Ser-775 increases the pathogenicity of proteins with an expanded polyglutamine tract. PTM: Sumoylation is dependent on nuclear localization and phosphorylation at Ser-775. It is reduced in the presence of an expanded polyglutamine tract. POLYMORPHISM: The poly-Gln region of ATXN1 is highly polymorphic (4 to 39 repeats) in the normal population and is expanded to about 40-83 repeats in spinocerebellar ataxia 1 (SCA1) patients. DISEASE: Defects in ATXN1 are the cause of spinocerebellar ataxia type 1 (SCA1) [MIM:164400]; also known as olivopontocerebellar atrophy I (OPCA I or OPCA1). 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 cerebellum degeneration with variable involvement of the brainstem and spinal cord. SCA1 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA1 is caused by expansion of a CAG repeat in the coding region of ATXN1. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. MISCELLANEOUS: Self-association seems to be necessary for formation of nuclear aggregates which are associated with pathogenesis. SIMILARITY: Belongs to the ATXN1 family. SIMILARITY: Contains 1 AXH domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN1"; WEB RESOURCE: Name=Wikipedia; Note=Ataxin-1 entry; URL="http://en.wikipedia.org/wiki/Ataxin_1";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P54253
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
