| Entrez Gene ID |
10075 |
| Official Gene Symbol |
HUWE1 (GeneCards) |
| Full name |
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase |
| Location |
Xp11.22 |
| Other ids |
Vega : OTTHUMG00000021617
MIM : 300697
HGNC : HGNC:30892
Ensembl : ENSG00000086758
|
| Other names |
MULE,
Ib772,
LASU1,
UREB1,
HECTH9,
URE-B1,
ARF-BP1,
HSPC272
|
| 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] |