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; protein homodimerization activity; and zinc ion binding activity. Involved in locomotion. Acts upstream of or within locomotory behavior. Predicted to be located in endoplasmic reticulum membrane. 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 | 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