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 have ubiquitin activating enzyme activity. Involved in axonogenesis. Predicted to localize to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in X-linked spinal muscular atrophy 2. Orthologous to human UBA1 (ubiquitin like modifier activating enzyme 1).
- Genome Resources
- Note
- None
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- Fig. 3 from Wishart et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked spinal muscular atrophy 2 | Alliance | Spinal muscular atrophy, X-linked 2, infantile | 301830 |
| VEXAS syndrome, somatic | 301054 |
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, catalytic cysteine 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 |
| Family | IPR018075 | Ubiquitin-activating enzyme E1 |
| Homologous_superfamily | IPR035985 | Ubiquitin-activating enzyme |
| 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 | Length | THIF-type NAD/FAD binding fold | Ubiquitin-activating enzyme | Ubiquitin-activating enzyme, catalytic cysteine domain | 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/SUMO-activating enzyme E1 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:F1RCA1
|
1058 | |||||||||||||
|
UniProtKB:Q6P9P3
|
1058 | |||||||||||||
|
UniProtKB:E9QEY2
|
195 | |||||||||||||
|
UniProtKB:E9QFW7
|
93 |
Interactions and Pathways
No data available
Plasmids
No data available