UBE2A
Function
E2 ubiquitin-conjugating enzyme that accepts ubiquitin from the ubiquitin-activating enzyme E1 and transfers it to a E3 ubiquitin-protein ligase (PubMed:16337599, PubMed:20061386, PubMed:23685073, PubMed:25582440, PubMed:38297121). In vitro catalyzes 'Lys-11', as well as 'Lys-48'-linked polyubiquitination (PubMed:20061386). Together with the E3 enzyme BRE1 (RNF20 and/or RNF40), plays a role in transcription regulation by catalyzing the monoubiquitination of histone H2B at 'Lys-120' to form H2BK120ub1 (PubMed:16337599). 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 (PubMed:16337599). Involved in mitophagy by acting as a E2 ubiquitin-conjugating enzyme for PRKN (PubMed:23685073). In association with the E3 enzyme UBR4, is involved in N-end rule-dependent protein degradation (PubMed:38182926). In association with the E3 ubiquitin-protein ligase complex SIFI, inhibits the mitochondrial stress response by acting as a E2 ubiquitin-conjugating enzyme for UBR4 and KCMF1 (PubMed:38297121).
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Protein modification; protein ubiquitination.
Post-translational modifications
Phosphorylation at Ser-120 by CDK9 increases activity towards histone H2B.
Sequence Similarities
Belongs to the ubiquitin-conjugating enzyme family.
Cellular localization
- Late endosome
- Lysosome
Alternative names
RAD6A, UBE2A, Ubiquitin-conjugating enzyme E2 A, E2 ubiquitin-conjugating enzyme A, RAD6 homolog A, Ubiquitin carrier protein A, Ubiquitin-protein ligase A, HR6A, hHR6A