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; protein homodimerization activity; and zinc ion binding activity. Involved in locomotion and locomotory behavior. Predicted to localize to cytosol and endoplasmic reticulum membrane. 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 early infantile 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 | 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