UBE2B

Description

The UBE2B (ubiquitin conjugating enzyme E2 B) is a protein-coding gene located on chromosome 5.

Ubiquitin-conjugating enzyme E2 B is a protein that in humans is encoded by the UBE2B 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, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is required for post-replicative DNA damage repair. Its protein sequence is 100% identical to the mouse, rat, and rabbit homologs, which indicates that this enzyme is highly conserved in eukaryotic evolution. UBE2B has been shown to interact with RAD18.

UBE2B 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'- and 'Lys-63'-linked polyubiquitination. Required for postreplication repair of UV-damaged DNA. Associates to the E3 ligase RAD18 to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono-ubiquitination of DNA- associated PCNA on 'Lys-164'. May be involved in neurite outgrowth. May play a role in DNA repair.

UBE2B is also known as E2-17kDa, HHR6B, HR6B, RAD6B, UBC2.

Associated Diseases

• male infertility with teratozoospermia due to single gene mutation
• partial chromosome Y deletion
• spermatogenic failure 65
• spermatogenic failure, X-linked, 3
• spermatogenic failure 72
• spermatogenic failure 40
• spermatogenic failure 46
• spermatogenic failure 18
• spermatogenic failure 27
• spermatogenic failure 39
• spermatogenic failure 47
• spermatogenic failure 11
• spermatogenic failure 10
• spermatogenic failure 49
• spermatogenic failure 19
• spermatogenic failure 45
• spermatogenic failure 43
• spermatogenic failure 42
• spermatogenic failure 51
• spermatogenic failure 20
• spermatogenic failure 41
• spermatogenic failure 63
• spermatogenic failure 25