| Gene Symbol | ATXN1 |
| Chromosome | 6p22.3. |
| Function | Capicua (CIC) repressor complex — Ataxin-1 binds to the transcriptional repressor CIC, regulating downstream target genes |
| Molecular Weight | 87 kDa |
| Amino Acids | 815 aa |
| Pathways | Notch signaling |
| UniProt ID | P54253 |
| GeneCards | ATXN1 |
| Human Protein Atlas | ATXN1 |
| AXH domain (Ataxin-1/HBP1) | mediates protein-protein interactions and RNA binding |
| Polyglutamine tract | CAG repeat region (normally 6-44 repeats; pathogenic >39) |
| Nuclear localization signal (NLS) | required for nuclear import |
| Nuclear export signal (NES) | regulates cytoplasmic shuttling |
| Serine 776 | critical phosphorylation site regulating stability and toxicity |
| Nuclear inclusions | Contain expanded ataxin-1, ubiquitin, and chaperones |
| Associated Diseases | Ataxia, Huntington's disease, neurodegeneration |
| Interactions | BDNF, CIC, NEURON, PKA |
| KG Connections | 28 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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