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: | BMPR1B |
| Gene Name: | BMPR1B |
| Protein Full Name: | Bone morphogenetic protein receptor type-1B |
| Alias: | BMR1B; EC 2.7.11.30; Kinase ALK6 |
| Mass (Da): | 56930 |
| Number AA: | 502 |
| UniProt ID: | O00238 |
| Locus ID: | 658 |
| COSMIC ID: | BMPR1B |
| Gene location on chromosome: | 4q22-q24 |
| Cancer protein type: | TSP |
| Effect of cancer mutation on protein: | LOSS |
| Effect of active protein on cancer: | INHIBITS |
| Number of cancer specimens: | 20448 |
| Percent of cancer specimens with mutations: | 0.48 |
| Normal role description: | BMPR1B is a transmembrane serine/threonine kinases that binds and activates SMAD transcription regulators -- which, themselves are tumour supressors, thus BMPRs can be considered tumour supressors as well. |
| Commentary on involvement of protein in cancer: | On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Defects in BMPR1B are the cause of acromesomelic chondrodysplasia with genital anomalies (AMDGA) [MIM:609441]. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs, and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). Ref.7 Defects in BMPR1B are a cause of brachydactyly type A2 (BDA2) [MIM:112600]. Brachydactylies (BDs) are a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. They have been classified on an anatomic and genetic basis into five groups, A to E, including three subgroups (A1 to A3) that usually manifest as autosomal dominant traits. BDA2 was described first in a large Norwegian kindred. BDA2 is caused by mutations in BMPR1B gene and studies demonstrate that these mutations function as dominant negatives in vitro and in vivo. Description The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that includes the type I receptors BMPR1A (601299) and BMPR1B and the type II receptor BMPR2 (600799). These receptors are also closely related to the activin receptors ACVR1 (102576) and ACVR2 (102581). The ligands of these receptors are members of the TGF-beta (190180) superfamily. |