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 have UFM1 activating enzyme activity. Involved in locomotion and locomotory behavior. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 24 and early infantile epileptic encephalopathy 44. Is expressed in several structures, including fin; hatching gland; hindbrain; notochord; and polster. 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 | Length | D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 | ThiF/MoeB/HesA family | THIF-type NAD/FAD binding fold | Ubiquitin-activating enzyme |
|---|---|---|---|---|---|
|
UniProtKB:A0A2R8QGC0
|
398 |
Interactions and Pathways
No data available
Plasmids
No data available