Gene Symbol | HUWE1 |
Entrez Gene ID | 10075 |
Full Name | HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase |
Synonyms | ARF-BP1,HECTH9,HSPC272,Ib772,LASU1,MULE,URE-B1,UREB1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, X-linked syndromic, Turner type, 300706 (3) |