XB-FEAT-957702

huwe1

This is the community wiki page for the gene huwe1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

05.13.19

Human name has changed for Entrez Gene: 10075. From HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase to HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

Summary from NCBI for human HUWE1

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]