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: | CSF1R |
| Gene Name: | CSF1R |
| Protein Full Name: | Macrophage colony-stimulating factor 1 receptor |
| Alias: | CD115; C-fms; Colony stimulating factor 1 receptor; CSF-1-R; CSFMR; FMS; Fms proto-oncogene; Kinase CSFR; Macrophage colony stimulating factor I receptor precursor; M-CSFR |
| Mass (Da): | 107984 |
| Number AA: | 972 |
| UniProt ID: | P07333; A2VDG3; Q6LEI2 |
| Locus ID: | 1436 |
| COSMIC ID: | CSF1R |
| Gene location on chromosome: | 5q32 |
| Cancer protein type: | OP |
| Effect of cancer mutation on protein: | GAIN |
| Effect of active protein on cancer: | PROMOTES |
| Number of cancer specimens: | 22992 |
| Percent of cancer specimens with mutations: | 1.04 |
| General distribution of mutations: | Multi-site |
| Location of most mutations: | Broad distribution of mutation sites with many point mutations, but no deletions, insertions or complex mutations across the entire protein. AA 969 shows a much higher rate of point mutation than other sites. |
| Commonly recorded point mutations: | Y969C (13); |
| Deregulated in translocations: | Megakaryoblastic leukemia. Fusion partner RBM6 |
| Transduced into viral genome: | Feline sarcoma virus Susan McDonough (SM) and HZ-5 strains - Domestic Cats. |
| Gene undergoes hypermethylation: | Acute Myeloid Leukemia |
| Normal role description: | Receptor for colony stimulating factor-1 and links CSF 1 signals to Ras-ERK pathway. It is involved in hematopoesis and commits cells to differentiation. Most cancer mutations and chromosomal alterations appear to confer loss of function suggesting that absence of this gene causes hematopoeic malignancy via inability of cells to mature. Point mutations and partial deletions of CSF1R have been observed in acute myeloid leukemia and myelodysplastic syndrome respectively. A chromosomal translocation event leading to fusion of CSF1R to RBM6 has been observed in acute megakaryoblastic leukemia. In women, overexpression of CSF1R has been observed in breast and cervical cancers and is thought to play an autocrine role in stimulating cancer progression. Due to CSF1R role in cell proliferation its main role in cancer progression is likely oncogenic and maybe mediated through dysfunction of regulation of the receptor. |
| Commentary on involvement of protein in cancer: | Y969 is located near the C-terminus of the protein and appears to undergo autophosphorylation.Y969F cause loss of down-regulation of activated CSF1R. L301S causes constitutive kinase activity. |