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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 3 from Wishart et al., 2014
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With uba1 Human Ortholog
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
Associated With uba1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations