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MGP003239

UniProt Annotations

Entry Information
Gene Nameubiquitin-conjugating enzyme E2A
Protein EntryUBE2A_HUMAN
UniProt IDP49459
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P49459-1; Sequence=Displayed; Name=2; IsoId=P49459-2; Sequence=VSP_043852; Name=3; IsoId=P49459-3; Sequence=VSP_043851; Note=No experimental confirmation available.;
Catalytic ActivityATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine. {ECO:0000255|PROSITE- ProRule:PRU00388, ECO:0000255|PROSITE-ProRule:PRU10133}.
DiseaseMental retardation, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSN features include dysmorphic facies, hirsutism, skin and nails abnormalities, obesity, speech anomalies and seizures. {ECO:0000269|PubMed:16909393, ECO:0000269|PubMed:20412111}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAccepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In association with the E3 enzyme BRE1 (RNF20 and/or RNF40), it plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1. H2BK120ub1 gives a specific tag for epigenetic transcriptional activation, elongation by RNA polymerase II, telomeric silencing, and is also a prerequisite for H3K4me and H3K79me formation. In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. {ECO:0000269|PubMed:16337599, ECO:0000269|PubMed:20061386}.
PathwayProtein modification; protein ubiquitination. {ECO:0000255|PROSITE-ProRule:PRU00388}.
PtmPhosphorylation at Ser-120 by CDK9 increases activity towards histone H2B. {ECO:0000269|PubMed:22592529}.
SimilarityBelongs to the ubiquitin-conjugating enzyme family. {ECO:0000255|PROSITE-ProRule:PRU00388}.
SubunitInteracts with RAD18 and WAC. {ECO:0000269|PubMed:21329877}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ube2a/";
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