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Official Full Name
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
Background
This gene 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.
Synonyms
HUWE1; HECT, UBA and WWE domain containing 1; E3 ubiquitin-protein ligase HUWE1; Ib772; KIAA0312; UREB1; UBA and WWE domain-containing protein 1; ARF binding protein 1; ARF BP1; ARF-binding protein 1; ARF-BP1; E3 ubiquitin protein ligase HUWE1; HECT; HECT UBA and WWE domain containing protein 1; HectH9; Homologous to E6AP carboxyl terminus homologous protein 9; HUWE; HUWE1_HUMAN; KIAA1578; Large structure of UREB1; LASU1; Mcl 1 ubiquitin ligase E3; Mcl-1 ubiquitin ligase E3; MULE; Upstream regulatory element-binding protein 1; URE B1; URE-B1; URE-binding protein 1; UREB 1; OTTHUMP00000023356; OTTHUMP00000023357; BJ-HCC-24 tumor antigen; HECT domain protein LASU1; HECT, UBA; HSPC272

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