HECT UBA And WWE Domain Containing Protein 1 (HUWE1)

HUWE1 encodes a member of the HECT E3 ubiquitin ligase family. The HECT domain lies in the C-terminus and contains the active-site cysteine which forms an intermediate ubiquitin-thioester bond. E3 family members are divided into three subfamilies based on their protein-protein interaction domains; this gene encodes a member of the SI(ngle)-HECT E3 subfamily. In lung, breast, and colorectal carcinomas, this gene is highly expressed. Mutations in this gene has been found in 3 unrelated families with X-linked syndromic mental retardation, Turner type.Weakly expressed in heart, brain and placenta but not in other tissues. Expressed in a number of cell lines, predominantly in those from colorectal carcinomas.