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: | HERC1 |
| Gene Name: | HERC1 |
| Protein Full Name: | Probable E3 ubiquitin-protein ligase HERC1 |
| Alias: | EC 6.3.2.-; Guanine nucleotide exchange factor p532; Hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1; P532; P619; Probable E3 ubiquitin-protein ligase HERC1 |
| Mass (Da): | 532186 |
| Number AA: | 4861 |
| UniProt ID: | Q15751 |
| Locus ID: | 8925 |
| COSMIC ID: | HERC1 |
| Gene location on chromosome: | 15q22 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20322 |
| Percent of cancer specimens with mutations: | 2.53 |
| Normal role description: | HERC1 is a guanine nucleotide exchange factor (GEF) for ARF1 and Rab proteins. As ARF is an inportant tumour suppressor protein (via binding and sequestering MDM1/2 -- an inhibitor of p53), mutations in HERC1 can lead to decreased activation of ARF and thus a decrease in pro-apoptotic signal from p53. Mutations in HERC1 are implicated in breast, bone, mouth, and ovarian tumors. |
| Commentary on involvement of protein in cancer: | Involved in membrane trafficking via some guanine nucleotide exchange factor (GEF) activity and its ability to bind clathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDP for free GTP. Binds phosphatidylinositol-4,5-bisphosphate, which is required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. |