Rad6

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.

Involvement in disease

Mental retardation, 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.

Alternative names

• Ubiquitin-conjugating enzyme E2 A
• E2 ubiquitin-conjugating enzyme A
• RAD6 homolog A
• Ubiquitin carrier protein A
• Ubiquitin-protein ligase A
• HR6A
• hHR6A
• UBE2A
• RAD6A

Database links

• swissprot:P49459

Target type

Proteins

Molecular weight

17315Da