Cancer Protein Description
This report provides a detailed description of a selected cancer protein with information collected from various sources, including UniProt, the Wellcome Trust Sanger Institute’s Catalogue of Somatic Mutations in Cancer (COSMIC), and the Atlas of Genetics and Cytogenetics in Oncology and Haematology.
| Protein Name: | HUWE1 |
| Gene Name: | HUWE1 |
| Protein Full Name: | E3 ubiquitin-protein ligase HUWE1 |
| Alias: | ARF-binding protein 1; ARF-BP1; E3 ubiquitin protein ligase URE-B1; HECT, UBA and WWE domain containing 1; HECT, UBA and WWE domain-containing protein 1; Homologous to E6AP carboxyl terminus homologous protein 9; HSPC272; Ib772; KIAA0312; KIAA1578; Large structure of UREB1; Mcl-1 ubiquitin ligase E3; Mule; Upstream regulatory element-binding protein 1; UREB1 |
| Mass (Da): | 481891 |
| Number AA: | 4374 |
| UniProt ID: | Q7Z6Z7 |
| Locus ID: | 10075 |
| COSMIC ID: | HUWE1 |
| Gene location on chromosome: | Xp11.22 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 20055 |
| Percent of cancer specimens with mutations: | 2.74 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with several point mutations and 1 deletion, but no complex or insertion mutants. |
| Normal role description: | HUWE1 is part of the HECT E3 ubiquitin ligase family. It is involved in ubiquitination and degradation of many targets such as MCL1, DNA polymerase beta, p53, H1, H2A, H2B, H3, and H4. These proteins are involved regulation of apoptosis, DNA repair, cell cycle arrest and chromatin modeling. Overexpression leads to dysregulation of DNA repair, progression of cell cycle and promote oncogenesis. |