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- Table of Contents
Facts about Ataxin-1.
Binds RNA in vitro. Might be involved in RNA metabolism (PubMed:21475249).
| Human | |
|---|---|
| Gene Name: | ATXN1 |
| Uniprot: | P54253 |
| Entrez: | 6310 |

| Belongs to: |
|---|
| ATXN1 family |

ataxin 1; ataxin 1); ataxin-1; ATX1spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant; SCA1D6S504E; Spinocerebellar ataxia type 1 protein
Mass (kDA):
86.923 kDA

| Human | |
|---|---|
| Location: | 6p22.3 |
| Sequence: | 6; NC_000006.12 (16299112..16761490, complement) |
Widely expressed throughout the body.
Cytoplasm. Nucleus. Colocalizes with USP7 in the nucleus.




PMID: 7951322 by Banfi S., et al. Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
PMID: 8634720 by Quan F., et al. A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1.