UBE2A

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.

Full Name

UBE2A

Function

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.

Biological Process

Biological Process chromatin organization Source:UniProtKB-KW
Biological Process DNA repair Source:UniProtKB1 Publication
Biological Process histone H2A ubiquitination Source:UniProtKB1 Publication
Biological Process histone ubiquitination Source:GO_Central1 Publication
Biological Process positive regulation of cell population proliferation Source:UniProtKB1 Publication
Biological Process postreplication repair Source:UniProtKB1 Publication
Biological Process proteasome-mediated ubiquitin-dependent protein catabolic process Source:GO_Central1 Publication
Biological Process protein autoubiquitination Source:UniProtKB1 Publication
Biological Process protein K11-linked ubiquitination Source:UniProtKB1 Publication
Biological Process protein K48-linked ubiquitination Source:UniProtKB1 Publication
Biological Process protein polyubiquitination Source:GO_Central1 Publication
Biological Process response to UV Source:UniProtKB1 Publication
Biological Process ubiquitin-dependent protein catabolic process Source:UniProtKB1 Publication

Cellular Location

chromatin
cytosol
HULC complex
nucleoplasm

Involvement in disease

Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN):
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.

PTM

Phosphorylation at Ser-120 by CDK9 increases activity towards histone H2B.