Gene
uba5
- ID
- ZDB-GENE-031112-2
- Name
- ubiquitin-like modifier activating enzyme 5
- Symbol
- uba5 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable UFM1 activating enzyme activity. Acts upstream of or within locomotory behavior. Predicted to be located in Golgi apparatus. Predicted to be active in cytosol. Is expressed in several structures, including fin; hatching gland; hindbrain; notochord; and polster. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 24 and developmental and epileptic encephalopathy 44. Orthologous to human UBA5 (ubiquitin like modifier activating enzyme 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb972 (8 images)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 24 | Alliance | ?Spinocerebellar ataxia, autosomal recessive 24 | 617133 |
| developmental and epileptic encephalopathy 44 | Alliance | Developmental and epileptic encephalopathy 44 | 617132 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 | ThiF/MoeB/HesA family | THIF-type NAD/FAD binding fold |
|---|---|---|---|---|---|
| UniProtKB:A0A2R8QGC0 | InterPro | 398 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available