| Gene Information | |
|---|---|
| Gene Name | MJD |
| Organism | Homo sapiens (Human) |
| Gene Length | 361 |
| Protein Names | Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | NA |
| Evolutionary Stage | NA |
| AlphaFoldDB | P54252 |
| Gene Card | ATXN3 |
| Uniprot ID | P54252 |
| Pfam | PF02099; PF02809 |
| In ASD | no |
| Allosteric Prediction | NA |
| Ortholog in Animals | NA |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Ubiquitous. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 1YZB (NMR - ) 2AGA (NMR - ) 2DOS (NMR - ) 2JRI (NMR - ) 2KLZ (NMR - ) 4WTH (X-ray 2.25A ) 4YS9 (X-ray 2.00A ) |
| DBSNP | rs1048755 |
| Subcellular location [CC] | Nucleus matrix {ECO:0000269|PubMed:9580663}. Nucleus {ECO:0000269|PubMed:30455355}. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix. |
| Mouse PG classification | NA |
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