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: | FBXW7 |
| Gene Name: | FBXW7 |
| Protein Full Name: | F-box/WD repeat-containing protein 7 |
| Alias: | Ago; Archipelago; Archipelago homolog; Cdc4; F-box and WD repeat domain containing 7; F-box and WD-40 domain protein 7; F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila); F-box protein FBX30; F-box/WD-repeat protein 7; FBW7; FBX30; FBXW6; FLJ11071; SEL10; SEL-10 |
| Mass (Da): | 79663 |
| Number AA: | 707 |
| UniProt ID: | Q969H0 |
| Locus ID: | 55294 |
| COSMIC ID: | FBXW7 |
| Gene location on chromosome: | 4q31.3 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 31241 |
| Percent of cancer specimens with mutations: | 3.15 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, insertion and deletions across protein, but a strong cluster is evident at AA 465-505. Only 1 site with complex mutations. |
| Commonly recorded point mutations: | R465C (67); R465H (59); R505C (57); R479Q (33) |
| Normal role description: | Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. May recognize and bind to phosphorylated target proteins. It is involved in cyclin-E, MYC, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1 degradation. Ubiquitin ligase. Mutations inactivating its function prevents the degradation of proteins involved in proliferation and oncogenesis. |
| Commentary on involvement of protein in cancer: | R465 is found in the WD 3 domain. R465C occurs in a acute lymphoblastic leukemia cell line. |