| Gene Symbol |
ATXN1
|
| Entrez Gene |
6310
|
| Alt Symbol |
ATX1, D6S504E, SCA1
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
ataxin 1
|
| Other Description |
alternative ataxin1|ataxin-1|spinocerebellar ataxia type 1 protein
|
| Swissprots |
Q9UJG2 Q9Y4J1 Q17S02 P54253
|
| Accessions |
AAD14401 EAW55370 EAW55371 EAW55372 EAW55373 EAW55374 P54253 AA774255 AK311274 AK311649 BC010948 BC011026 AAH11026 BC014548 AAH14548 BC029401 BC039236 BC047894 BC063120 BC092446 BC113082 BC117125 AAI17126 BF666802 BF670717 BP365416 BX505133 HQ258517 ADR83271 JX901140 AGA61747 N52856 X79204 CAA55793 NM_000332 NP_000323 NM_001128164 NP_001121636
|
| Function |
Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function. {ECO:0000269|PubMed:21475249}.
|
| Subcellular Location |
Cytoplasm {ECO:0000250}. Nucleus {ECO:0000269|PubMed:12093161}. Note=Colocalizes with USP7 in the nucleus.
|
| Tissue Specificity |
Widely expressed throughout the body.
|