UBR5
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
E3 ubiquitin-protein ligase UBR5 is an enzyme that in humans is encoded by the UBR5 gene.[5][6][7]
External IDsOMIM: 608413; MGI: 1918040; HomoloGene: 9295; GeneCards: UBR5; OMA:UBR5 - orthologs
Function
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.[7]
Mutations in UBR5 have been associated with autism spectrum disorder.[8][9]