| Gene Information | |
|---|---|
| Gene Name | SCA1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 815 |
| Protein Names | Ataxin-1 (Spinocerebellar ataxia type 1 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P54253 |
| Gene Card | ATXN1 |
| Uniprot ID | P54253 |
| Pfam | PF12547; PF08517 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Widely expressed throughout the body. {ECO:0000269|PubMed:12062018}. |
| Pharmacological Animal Models | NULL(Chimpanzee);NULL(Mouse);0.001000(Rat);0.015385(Rabbit) |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1OA8 (X-ray 1.70A ) 2M41 (NMR - ) 4APT (X-ray 2.50A ) 4AQP (X-ray 2.45A ) 4J2J (X-ray 2.50A ) 4J2L (X-ray 3.15A ) 6QIU (X-ray 1.80A ) |
| DBSNP | rs11969612 rs16885 |
| Subcellular location [CC] | Cytoplasm {ECO:0000269|PubMed:7647801}. Nucleus {ECO:0000269|PubMed:12093161, ECO:0000269|PubMed:7647801}. Note=Colocalizes with USP7 in the nucleus. {ECO:0000269|PubMed:12093161}. |
| Mouse PG classification | NA |
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