Aliases for ATXN3 Gene
External Ids for ATXN3 Gene
Previous HGNC Symbols for ATXN3 Gene
Previous GeneCards Identifiers for ATXN3 Gene
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]
GeneCards Summary for ATXN3 Gene
ATXN3 (Ataxin 3) is a Protein Coding gene. Diseases associated with ATXN3 include Machado-Joseph Disease and Machado-Joseph Disease Type 1. Among its related pathways are Metabolism of proteins and Josephin domain DUBs. Gene Ontology (GO) annotations related to this gene include identical protein binding and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is ATXN3L.
UniProtKB/Swiss-Prot for ATXN3 Gene
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 (By similarity). 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).