Gene
atxn3
- ID
- ZDB-GENE-040426-983
- Name
- ataxin 3
- Symbol
- atxn3 Nomenclature History
- Previous Names
-
- zgc:56323
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have thiol-dependent ubiquitin-specific protease activity. Predicted to be involved in protein deubiquitination. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Machado-Joseph disease. Orthologous to human ATXN3 (ataxin 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:56323 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| late onset Parkinson's disease | Alliance | {Parkinson disease, late-onset, susceptibility to} | 168600 |
| Machado-Joseph disease | Alliance | Machado-Joseph disease | 109150 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Josephin domain | Machado-Joseph disease protein | Ubiquitin interacting motif |
|---|---|---|---|---|
|
UniProtKB:A0A0R4ITP2
|
311 | |||
|
UniProtKB:A0A8M6YTS8
|
266 | |||
|
UniProtKB:A0A8M9P030
|
310 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available