Aliases for UBE2A Gene
External Ids for UBE2A Gene
Previous GeneCards Identifiers 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 cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for UBE2A Gene
UBE2A (Ubiquitin Conjugating Enzyme E2 A) is a Protein Coding gene. Diseases associated with UBE2A include Mental Retardation, X-Linked, Syndromic, Nascimento Type and Syndromic X-Linked Intellectual Disability Nascimento Type. Among its related pathways are Metabolism of proteins and Innate Immune System. Gene Ontology (GO) annotations related to this gene include ligase 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.