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 enable cysteine-type deubiquitinase activity. Acts upstream of or within photoreceptor cell development. Predicted to be active in nucleus. Is expressed in brain; eye; and retina. Human ortholog(s) of this gene implicated in Machado-Joseph disease and late onset Parkinson's 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 |
1 - 2 of 2
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Josephin domain | Machado-Joseph disease protein | Ubiquitin interacting motif |
|---|---|---|---|---|---|
| UniProtKB:A0A0R4ITP2 | InterPro | 311 | |||
| UniProtKB:A0A8M6YTS8 | InterPro | 266 | |||
| UniProtKB:A0A8M9P030 | InterPro | 310 |
1 - 3 of 3
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Encodes | cDNA | MGC:56323 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:174540 | ZFIN Curated Data |
1 - 2 of 2
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_201104 (1) | 1943 nt | ||
| Genomic | GenBank:FO704905 (1) | 34475 nt | ||
| Polypeptide | UniProtKB:A0A0R4ITP2 (1) | 311 aa |