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ataxin-1 spinocerebellar ataxia type 1 (SCA1) protein. Expansion of CAG repeats in the SCA1 gene results in an abnormally long polyglutamine tract in the protein, causing polyglutamine-induced neurodegeneration. 14-3-3 and Akt kinase stabilize both wild-type and mutant forms of ataxin-1. The expansion of the polyglutamine tract may alter this function. Note: This description may include information from UniProtKB.
Protein type: Nuclear export; RNA-binding
Chromosomal Location of Human Ortholog: 6p22.3
Cellular Component: cytoplasm; cytosol; nuclear inclusion body; nuclear matrix; nuclear RNA export factor complex; nucleolus; nucleoplasm; nucleus
Molecular Function: identical protein binding; poly(rG) binding; poly(U) binding; protein binding; protein C-terminus binding; protein self-association
Biological Process: negative regulation of transcription, DNA-dependent; nuclear export
Disease: Spinocerebellar Ataxia 1
Reference #:  P54253 (UniProtKB)
Alt. Names/Synonyms: ataxin 1; Ataxin-1; ATX1; ATXN1; D6S504E; SCA1; Spinocerebellar ataxia type 1 protein
Gene Symbols: ATXN1
Molecular weight: 86,923 Da
Basal Isoelectric point: 8.49  Predict pI for various phosphorylation states
CST Pathways:  PI3K/Akt Signaling
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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