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: | FGFR1 |
| Gene Name: | FGFR1 |
| Protein Full Name: | Basic fibroblast growth factor receptor 1 |
| Alias: | BFGFR; BFGF-R; CD331; CEK; C-fgr; EC 2.7.10.1; FGFBR; FGFR-1; Fgr; FGR1; Fibroblast growth factor receptor 1; FLG; FLT2; Fms-like tyrosine kinase 2; Fms-like tyrosine kinase-2; H2; H3; H4; H5; KAL2; Kinase FGFR1; MFR; N-SAM; Pfeiffer syndrome |
| Mass (Da): | 91868 |
| Number AA: | 822 |
| UniProt ID: | P11362 |
| Locus ID: | 2260 |
| COSMIC ID: | FGFR1 |
| Gene location on chromosome: | 8p12 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | UNCLEAR |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 25098 |
| Percent of cancer specimens with mutations: | 0.9 |
| Found in amplified chromosomal regions in human cancers: | Breast carcinomas (10%); bladder; mouth cancer; salivary gland |
| Deregulated in translocations: | The translocations are: t(6;8)(q27; p12) involving FGFR1OP (FGFR1 Oncogene Partner) t(7;8)(q34;p12) involving TRIM24 (transcriptional intermediary factor 1) t(8;9)(p12;q33) involving CEP110 (Centrosome protein 110) (review in Mozziconacci et al., 2008) t( |
| Normal role description: | FGFR1 is a receptor-tyrosine kinase that is activated upon binding fibroblast growth factor (FGF). It is a key player in many numerous cell signalling pathways including MAPK/AKT/PLC/STAT/NF-kB. FGF and the FGFR1 is a stimulator of cell differentiation, proliferation, repair, angiogenesis, pro-survival, anti-apoptosis, etc. Overexpression leads to disregulated cell growth which forms the basis of early oncogenesis. This occurs through amplification, gene duplication, or translocation leading to constitutive activation of the receptor. |