UBR5

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]

UBR5 has been shown to interact with:

• CIB1,^[10]
• Karyopherin alpha 1,^[10]
• MAPK1,^[11] and
• TOPBP1.^[12]