AAH33711
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
ATXN3 protein
NCBI Official Synonym Full Names
ataxin 3
NCBI Official Synonym Symbols
AT3; JOS; MJD; ATX3; MJD1; SCA3 [Similar Products]
NCBI Protein Information
ataxin-3
UniProt Protein Name
Ataxin-3
UniProt Synonym Protein Names
Machado-Joseph disease protein 1; Spinocerebellar ataxia type 3 protein
UniProt Synonym Gene Names
NCBI Summary for ATXN3
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
UniProt Comments for ATXN3
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460).
Product References and Citations for ATXN3 recombinant protein
Doss Pepe EW., et al. (2003). Mol Cell Biol. 23 (18):6469-83. ; Paulson., et al. (1997). Ann Neurol. 41 (4):453-62.;
Research Articles on ATXN3
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Products associated with ATXN3 recombinant protein
Pathways associated with ATXN3 recombinant protein
Diseases associated with ATXN3 recombinant protein
Organs/Tissues associated with ATXN3 recombinant protein
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