Gene details
Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.
ATXN3 - ataxin 3
Function
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).
Uniprot Browser| Entrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
|---|---|---|---|
| 4287 | ENSG00000066427 | ATXN3 | P54252 |
Gene Regulons
A gene can be associated with multiple causal flows as a member of multiple regulons
| Regulon | Program | # genes | # regulators | # causal flows |
|---|