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: | BMPR1A |
| Gene Name: | BMPR1A |
| Protein Full Name: | Bone morphogenetic protein receptor type-1A |
| Alias: | Activin receptor-like kinase 3; ACVRLK3; ALK3; ALK-3; BMR1A; BMRA; Bone morphogenetic protein receptor type IA precursor; Bone morphogenetic protein receptor, type IA; CD292; EC 2.7.11.30; Serine/threonine-protein kinase receptor R5; SKR5 |
| Mass (Da): | 60198 |
| Number AA: | 532 |
| UniProt ID: | P36894 |
| Locus ID: | 657 |
| COSMIC ID: | BMPR1A |
| Gene location on chromosome: | 10q21-22 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20834 |
| Percent of cancer specimens with mutations: | 0.46 |
| Mutations observed as inherited: | reported to be mutated in 17-40% of Juvenile polyposis; mutated in Cowden disease |
| Normal role description: | BMPR1A is a receptor-serine kinase that dimerizes and is activated upon binding BMP. It activates SMAD. |