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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

cb972 (8 images)

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
Family	IPR045886	ThiF/MoeB/HesA family
Homologous_superfamily	IPR035985	Ubiquitin-activating enzyme