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: | FAT1 |
Gene Name: | FAT1 |
Protein Full Name: | Protocadherin Fat 1 |
Alias: | Cadherin-related tumor suppressor; CDHF7; FAT tumor suppressor 1; FATH; Protein fat homolog |
Mass (Da): | 506278 |
Number AA: | 4590 |
UniProt ID: | Q14517 |
Locus ID: | 2195 |
COSMIC ID: | FAT1 |
Gene location on chromosome: | 4q35.2 |
Cancer protein type: | TSP |
Effect of cancer mutation on protein: | LOSS |
Effect of active protein on cancer: | INHIBITS |
Number of cancer specimens: | 19800 |
Percent of cancer specimens with mutations: | 3.6 |
General distribution of mutations: | Multi-site |
Location of most mutations: | Wide range of points mutations and 1 deletion, without complex mutations or insertions, across the full length of the protein. |
Gene undergoes hypermethylation: | Yes in oral cancer |
Normal role description: | FAT1, a member of the cadherin gene family, and is a homologue of Drosophila tumour suppressor gene FAT. Levels are very high in embryogenesis and regress throughout life. FAT1 directs cell migration and cell-cell interaction suggesting that disregulation may lead to abnormal cellular architecture and tumour growth. FAT1 is a cell-surface protein for the tumour suppressor Salvador-Warts-Hippo pathway. FAT1 is implicated in oncogenesis through loss-of-heterozygosity in many cancer systems through differing mechanisms (mutation, deletion, etc). |