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MGP003237

UniProt Annotations

Entry Information
Gene Nameubiquitin-like modifier activating enzyme 1
Protein EntryUBA1_HUMAN
UniProt IDP22314
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative initiation; Named isoforms=2; Name=1; Synonyms=E1a; IsoId=P22314-1; Sequence=Displayed; Name=2; Synonyms=E1b; IsoId=P22314-2; Sequence=VSP_055913;
DiseaseSpinal muscular atrophy X-linked 2 (SMAX2) [MIM:301830]: A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures. {ECO:0000269|PubMed:18179898, ECO:0000269|PubMed:23518311}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe first 11 amino acids are essential for phosphorylation and exclusive nuclear localization.
FunctionCatalyzes the first step in ubiquitin conjugation to mark cellular proteins for degradation through the ubiquitin- proteasome system. Activates ubiquitin by first adenylating its C- terminal glycine residue with ATP, and thereafter linking this residue to the side chain of a cysteine residue in E1, yielding a ubiquitin-E1 thioester and free AMP. Essential for the formation of radiation-induced foci, timely DNA repair and for response to replication stress. Promotes the recruitment of TP53BP1 and BRCA1 at DNA damage sites. {ECO:0000269|PubMed:22456334}.
InteractionQ76353:- (xeno); NbExp=2; IntAct=EBI-709688, EBI-6248077; Q9H2C0:GAN; NbExp=5; IntAct=EBI-709688, EBI-764342; P63279:UBE2I; NbExp=2; IntAct=EBI-709688, EBI-80168;
MiscellaneousThere are two active sites within the E1 molecule, allowing it to accommodate two ubiquitin moieties at a time, with a new ubiquitin forming an adenylate intermediate as the previous one is transferred to the thiol site.
PathwayProtein modification; protein ubiquitination.
PtmISGylated. {ECO:0000269|PubMed:16139798}.
SimilarityBelongs to the ubiquitin-activating E1 family. {ECO:0000305}.
Subcellular LocationCytoplasm. Mitochondrion. Nucleus.
Subcellular LocationIsoform 1: Nucleus.
Subcellular LocationIsoform 2: Cytoplasm.
SubunitMonomer (By similarity). Interacts with GAN (via BTB domain). {ECO:0000250, ECO:0000269|PubMed:16227972}.
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