Gene
uba1
- ID
- ZDB-GENE-040426-2009
- Name
- ubiquitin-like modifier activating enzyme 1
- Symbol
- uba1 Nomenclature History
- Previous Names
-
- ube1 (1)
- fb30f01
- wu:fa01e08
- wu:fb30f01
- wu:fi21c11
- wu:fj14g11
- zgc:66143
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable ubiquitin activating enzyme activity. Acts upstream of or within axonogenesis and regulation of inflammatory response. Predicted to be active in cytoplasm and nucleus. Human ortholog(s) of this gene implicated in VEXAS syndrome and X-linked spinal muscular atrophy 2. Orthologous to human UBA1 (ubiquitin like modifier activating enzyme 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:66143 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| VEXAS syndrome | Alliance | VEXAS syndrome, somatic | 301054 |
| X-linked spinal muscular atrophy 2 | Alliance | Spinal muscular atrophy, X-linked 2, infantile | 301830 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR033127 | Ubiquitin-activating enzyme E1, Cys active site |
| Domain | IPR000594 | THIF-type NAD/FAD binding fold |
| Domain | IPR018965 | Ubiquitin-activating enzyme E1, C-terminal |
| Domain | IPR019572 | Ubiquitin-activating enzyme, SCCH domain |
| Domain | IPR032418 | Ubiquitin-activating enzyme E1, FCCH domain |
| Domain | IPR032420 | Ubiquitin-activating enzyme E1, four-helix bundle |
| Family | IPR000011 | Ubiquitin/SUMO-activating enzyme E1-like |
| Family | IPR018075 | Ubiquitin-activating enzyme E1 |
| Family | IPR045886 | ThiF/MoeB/HesA family |
| Homologous_superfamily | IPR038252 | Ubiquitin-activating enzyme E1, C-terminal domain superfamily |
| Homologous_superfamily | IPR042063 | Ubiquitin-activating enzyme E1, SCCH domain |
| Homologous_superfamily | IPR042302 | Ubiquitin-activating enzyme E1, FCCH domain superfamily |
| Homologous_superfamily | IPR042449 | Ubiquitin-activating enzyme E1, inactive adenylation domain, subdomain 1 |
Domain Details Per Protein
| Protein | Additional Resources | Length | ThiF/MoeB/HesA family | THIF-type NAD/FAD binding fold | Ubiquitin-activating enzyme E1 | Ubiquitin-activating enzyme E1, C-terminal | Ubiquitin-activating enzyme E1, C-terminal domain superfamily | Ubiquitin-activating enzyme E1, Cys active site | Ubiquitin-activating enzyme E1, FCCH domain | Ubiquitin-activating enzyme E1, FCCH domain superfamily | Ubiquitin-activating enzyme E1, four-helix bundle | Ubiquitin-activating enzyme E1, inactive adenylation domain, subdomain 1 | Ubiquitin-activating enzyme E1, SCCH domain | Ubiquitin-activating enzyme, SCCH domain | Ubiquitin/SUMO-activating enzyme E1-like |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M2B975 | InterPro | 1058 | |||||||||||||
| UniProtKB:Q6P9P3 | InterPro | 1058 |
Interactions and Pathways
No data available
Plasmids
No data available