BMPR1A
Function
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 BMP2, BMP4, GDF5 and GDF6. Positively regulates chondrocyte differentiation through GDF5 interaction. Mediates induction of adipogenesis by GDF6. May promote the expression of HAMP, potentially via its interaction with BMP2 (By similarity).
Involvement in disease
Juvenile polyposis syndrome
JPS
Autosomal dominant gastrointestinal hamartomatous polyposis syndrome in which patients are at risk for developing gastrointestinal cancers. The lesions are typified by a smooth histological appearance, predominant stroma, cystic spaces and lack of a smooth muscle core. Multiple juvenile polyps usually occur in a number of Mendelian disorders. Sometimes, these polyps occur without associated features as in JPS; here, polyps tend to occur in the large bowel and are associated with an increased risk of colon and other gastrointestinal cancers.
None
The disease is caused by variants affecting the gene represented in this entry.
Polyposis syndrome, mixed hereditary 2
HMPS2
A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas.
None
The disease is caused by variants affecting the gene represented in this entry.
A microdeletion of chromosome 10q23 involving BMPR1A and PTEN is a cause of chromosome 10q23 deletion syndrome, which shows overlapping features of the following three disorders: Bannayan-Zonana syndrome, Cowden disease and juvenile polyposis syndrome.
Post-translational modifications
Glycosylated.
Sequence Similarities
Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.
Tissue Specificity
Highly expressed in skeletal muscle.
Cellular localization
- Cell membrane
- Single-pass type I membrane protein
- Cell surface
Alternative names
CD292, ACVRLK3, ALK3, BMPR1A, Bone morphogenetic protein receptor type-1A, BMP type-1A receptor, BMPR-1A, Activin receptor-like kinase 3, Serine/threonine-protein kinase receptor R5, ALK-3, SKR5