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: | FLT3 |
| Gene Name: | FLT3 |
| Protein Full Name: | FL cytokine receptor |
| Alias: | CD135; EC 2.7.10.1; Fetal liver kinase 2; FL cytokine receptor; FLK2; FLK-2; FLT-3; Fms-related tyrosine kinase 3; Kinase Flt3; Stem cell tyrosine kinase 1; STK1; STK-1 |
| Mass (Da): | 112903 |
| Number AA: | 993 |
| UniProt ID: | P36888 |
| Locus ID: | 2322 |
| COSMIC ID: | FLT3 |
| Gene location on chromosome: | 13q12.2 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 97891 |
| Percent of cancer specimens with mutations: | 15.88 |
| General distribution of mutations: | Narrow |
| Location of most mutations: | Two main regions, one (AA 835) with point mutations, the other (AA 560-640) with complex mutations including complex mutations, insertions and deletions. |
| Commonly recorded point mutations: | D835Y (211); D835? (707) |
| Mutations observed as inherited: | NA |
| Found in amplified chromosomal regions in human cancers: | NA |
| Deregulated in translocations: | NA |
| Deregulated by viral insertion: | NA |
| Transduced into viral genome: | NA |
| Gene undergoes hypermethylation: | NA |
| Normal role description: | FLT3 is a receptor-tyrosine kinase that is activated upon binding the cytokine FLT3LG and plays a role in differentiation, proliferation, and survival of hematopoietic progenitors and dendritic cells. It can activate the Ras signalling pathway and phosphorylate downstream kinases such as MAPK1/ERK2 and MAPK3/ERK1. Mutations causing constitutive activity promote cell proliferation and resistance to apoptosis. Defects have been associated with acute myelogenous leukemia |
| Commentary on involvement of protein in cancer: | D835Y in acute lymphoblastic leukemia patients and in acute myelogenous leukemia patients; somatic mutation; constitutively activated. D835 is located in the kinase catalytic domain in the activation loop between subdomains VII and VIII. |