Gene

uba5

ID
ZDB-GENE-031112-2
Name
ubiquitin-like modifier activating enzyme 5
Symbol
uba5 Nomenclature History
Previous Names
  • cb972 (1)
  • ube1dc1 (1)
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to have UFM1 activating enzyme activity. Involved in locomotion and locomotory behavior. Predicted to localize to cytosol. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 24 and early infantile epileptic encephalopathy 44. Is expressed in several structures, including fin; hatching gland; hindbrain; notochord; and polster. Orthologous to human UBA5 (ubiquitin like modifier activating enzyme 5).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from Thisse et al., 2001
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Colin et al., 2016
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With uba5 Human Ortholog
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
Associated With uba5 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR029752 D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1
Domain IPR000594 THIF-type NAD/FAD binding fold
Homologous_superfamily IPR035985 Ubiquitin-activating enzyme
Domain Details Per Protein
Protein Length D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding domain conserved site 1 THIF-type NAD/FAD binding fold Ubiquitin-activating enzyme
UniProtKB:E9QDS5 399
UniProtKB:X1WER2 398
UniProtKB:A0A2R8QGC0 398
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations