Aliases for UBA5 Gene
External Ids for UBA5 Gene
Previous HGNC Symbols for UBA5 Gene
Previous GeneCards Identifiers for UBA5 Gene
This gene encodes a member of the E1-like ubiquitin-activating enzyme family. This protein activates ubiquitin-fold modifier 1, a ubiquitin-like post-translational modifier protein, via the formation of a high-energy thioester bond. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been identified on chromosome 1. [provided by RefSeq, Feb 2016]
GeneCards Summary for UBA5 Gene
UBA5 (Ubiquitin Like Modifier Activating Enzyme 5) is a Protein Coding gene. Diseases associated with UBA5 include Spinocerebellar Ataxia, Autosomal Recessive 24 and Epileptic Encephalopathy, Early Infantile, 44. Among its related pathways are Remodeling of Adherens Junctions and Class I MHC mediated antigen processing and presentation. Gene Ontology (GO) annotations related to this gene include UFM1 activating enzyme activity. An important paralog of this gene is UBA1.
UniProtKB/Swiss-Prot Summary for UBA5 Gene
E1-like enzyme which activates UFM1 and SUMO2.