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: | TGFB1 |
| Gene Name: | TGFB1 |
| Protein Full Name: | Transforming growth factor beta-1 |
| Alias: | Camurati-Engelmann disease; CED; Diaphyseal dysplasia 1, progressive; DPD1; TGFB; TGFbeta; TGF-beta 1; Transforming growth factor, beta 1; Transforming growth factor, beta 1 (Camurati-Engelmann disease) |
| Mass (Da): | 44341 |
| Number AA: | 390 |
| UniProt ID: | Q15582 |
| Locus ID: | 7040 |
| COSMIC ID: | TGFB1 |
| Gene location on chromosome: | 19q13.2; 19q13.1 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20057 |
| Percent of cancer specimens with mutations: | 0.21 |
| Normal role description: | Secreted protein. Binds to type I, II, and IV collagens. This adhesion protein may play an important role in cell-collagen interactions. In cartilage, may be involved in endochondral bone formation. |
| Commentary on involvement of protein in cancer: | Multifunctional protein that controls proliferation, differentiation and other functions in many cell types. Many cells synthesize TGFB1 and have specific receptors for it. It positively and negatively regulates many other growth factors. It plays an important role in bone remodeling as it is a potent stimulator of osteoblastic bone formation, causing chemotaxis, proliferation and differentiation in committed osteoblasts. |