Aliases for UBE2A Gene
External Ids for UBE2A Gene
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, ubiquitin-conjugating enzymes, and ubiquitin-protein ligases. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair, and may play a role in transcriptional regulation. Mutations in this gene are associated with mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for UBE2A Gene
UBE2A (Ubiquitin-Conjugating Enzyme E2A) is a Protein Coding gene. Diseases associated with UBE2A include x-linked intellectual disability, nascimento type and mental retardation, x-linked syndromic, nascimento-type. Among its related pathways are TGF-Beta Pathway and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include ubiquitin-protein transferase activity and ubiquitin protein ligase binding. An important paralog of this gene is UBE2B.
UniProtKB/Swiss-Prot for UBE2A Gene
Accepts 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.