Entrez gene ID | | 10075 |
Official gene symbol | | HUWE1 |
Full name | | HECT, UBA and WWE domain containing 1 |
Aliases | | ,ARF-BP1,HECTH9,HSPC272,Ib772,KIAA0312,LASU1,MULE,UREB1, |
Gene summary | | 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. [provided by RefSeq] |
Location | | Chromosome: X Locus: Xp11.22 |
Gene position | | 53713673 - 53559063 Map Viewer |
Gene orientation | | minus |
Gene size | | 154611 bp |
Gene sequence |
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OMIM ID | | 300697 |
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