Aliases for UBR5 Gene
External Ids for UBR5 Gene
Previous HGNC Symbols for UBR5 Gene
Previous GeneCards Identifiers for 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. [provided by RefSeq, Jul 2008]
GeneCards Summary for UBR5 Gene
UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5) is a Protein Coding gene. Diseases associated with UBR5 include Brachydactyly, Type E2 and Brachydactyly, Type E1. Among its related pathways are Mesodermal Commitment Pathway and Tryptophan metabolism. Gene Ontology (GO) annotations related to this gene include RNA binding and ubiquitin-protein transferase activity. An important paralog of this gene is HECTD4.
UniProtKB/Swiss-Prot for UBR5 Gene
E3 ubiquitin-protein ligase which is a component of the N-end rule pathway. Recognizes and binds to proteins bearing specific N-terminal residues that are destabilizing according to the N-end rule, leading to their ubiquitination and subsequent degradation (By similarity). Involved in maturation and/or transcriptional regulation of mRNA by activating CDK9 by polyubiquitination. May play a role in control of cell cycle progression. May have tumor suppressor function. Regulates DNA topoisomerase II binding protein (TopBP1) in the DNA damage response. Plays an essential role in extraembryonic development. Ubiquitinates acetylated PCK1. Also acts as a regulator of DNA damage response by acting as a suppressor of RNF168, an E3 ubiquitin-protein ligase that promotes accumulation of 'Lys-63'-linked histone H2A and H2AX at DNA damage sites, thereby acting as a guard against excessive spreading of ubiquitinated chromatin at damaged chromosomes.