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: | FHIT |
| Gene Name: | FHIT |
| Protein Full Name: | Bis(5'-adenosyl)-triphosphatase |
| Alias: | AP3A hydrolase;Diadenosine 5',5'''-P1,P3-triphosphate hydrolase;Dinucleosidetriphosphatase;Fragile histidine triad protein |
| Mass (Da): | 16727 |
| Number AA: | 147 |
| UniProt ID: | P49789 |
| Locus ID: | 2272 |
| COSMIC ID: | FHIT |
| Gene location on chromosome: | 3p14.2 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20000 |
| Percent of cancer specimens with mutations: | 0.19 |
| Deregulated in translocations: | Translocation t(3;8)(p14.2;q24.1) with RNF139 |
| Normal role description: | Enzyme-Bis(5'-adenosyl)-triphosphatase (FHIT). Cleaves A-5'-PPP-5'A to yield AMP and ADP. FHIT is downregulated in almost 60% of all cancers. The Fhit-Ap3A enzyme-substrate complex appears to be the tumour suppressor signal. Restoration of Fhit expression in Fhit-deficient cancer cells causes death by apoptosis, involving the intrinsic caspase pathway, in cancer-derived cells and in tumour xenografts. |