UBR5

Description

The UBR5 (ubiquitin protein ligase E3 component n-recognin 5) is a protein-coding gene located on chromosome 8.

E3 ubiquitin-protein ligase UBR5 is an enzyme that in humans is encoded by the UBR5 gene. This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation. UBR5 has been shown to interact with: CIB1, Karyopherin alpha 1, MAPK1, and TOPBP1.

UBR5 is an E3 ubiquitin-protein ligase that is a component of the N-end rule pathway. It recognizes and binds to proteins with specific destabilizing N-terminal residues, targeting them for ubiquitination and subsequent degradation. UBR5 is involved in mRNA maturation and/or transcriptional regulation by activating CDK9 through polyubiquitination. It may play a role in cell cycle progression and has potential tumor suppressor function. UBR5 regulates TopBP1 in the DNA damage response. It plays an essential role in extraembryonic development and ubiquitinates acetylated PCK1. UBR5 also acts as a regulator of DNA damage response by suppressing RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thus preventing excessive spreading of ubiquitinated chromatin at damaged chromosomes.

UBR5 is also known as DD5, EDD, EDD1, HYD.

Associated Diseases

WES Whole Exome Sequencing