UBE2W
Description
The UBE2W (ubiquitin conjugating enzyme E2 W) is a protein-coding gene located on chromosome 8.
UBE2W accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. It specifically monoubiquitinates the N-terminus of various substrates, including ATXN3, MAPT/TAU, POLR2H/RPB8, and STUB1/CHIP, by recognizing backbone atoms of disordered N-termini. It is involved in the degradation of misfolded chaperone substrates by mediating monoubiquitination of STUB1/CHIP, leading to recruitment of ATXN3 to monoubiquitinated STUB1/CHIP, and restriction of the length of the ubiquitin chain attached to STUB1/CHIP substrates by ATXN3. After UV irradiation, but not after mitomycin-C (MMC) treatment, UBE2W acts as a specific E2 ubiquitin-conjugating enzyme for the Fanconi anemia complex by associating with E3 ubiquitin-protein ligase FANCL and catalyzing monoubiquitination of FANCD2, a key step in the DNA damage pathway. In vitro, it catalyzes 'Lys-11'-linked polyubiquitination. UBE2W-catalyzed ubiquitination occurs also in the presence of inactive RING/U-box type E3s, i.e. lacking the active site cysteine residues to form thioester bonds with ubiquitin, or even in the absence of E3, albeit at a slower rate.
UBE2W is also known as UBC-16, UBC16.
Associated Diseases
- partial chromosome Y deletion
- spermatogenic failure 25
- ring chromosome Y
- spermatogenic failures 50
- spermatogenic failure 51
- spermatogenic failure 65
- isochromosomy Yp
- isochromosomy Yq
- male infertility with teratozoospermia due to single gene mutation
- spermatogenic failure, X-linked, 3
- spermatogenic failure 39
- spermatogenic failure 63
- spermatogenic failure 48
