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ATXN3 / JOS
ataxin 3
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates. Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins. 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. In response to misfolded substrate ubiquitination, mediates deubiquitination of monoubiquitinated STUB1/CHIP. Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription.
| Gene Name: | ataxin 3 |
| Synonyms: | ATXN3, ATX3, Ataxin 3, Ataxin 3 variant h, AT3, Ataxin 3 variant m, Ataxin 3 variant ref, Ataxin-3, Olivopontocerebellar ataxia 3, SCA3, MJD1, JOS, Josephin, MJD |
| Target Sequences: | NM_004993 NP_004984.2 P54252 |
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