BMPR1A Active Protein

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A and BMPR1B and the type II receptor BMPR2. These receptors are also closely related to the activin receptors, ACVR1 and ACVR2. The ligands of these receptors are members of the TGF-beta superfamily. TGF-betas and activins transduce their signals through the formation of heteromeric complexes with 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. [provided by RefSeq, Jul 2008]

BMPR1A: a serine/threonine-protein kinase receptor for Bone morphogenetic protein-2 and -4 (BMP-2 and BMP-4). Defects in BMPR1A are a cause of juvenile polyposis syndrome (JPS) and Cowden disease (CD), a cancer syndrome characterized by multiple hamartomas and by a high risk for breast, thyroid and endometriel cancers.

Protein type: Protein kinase, TKL; EC 2.7.11.30; Protein kinase, Ser/Thr (receptor); Membrane protein, integral; Kinase, protein; TKL group; STKR family; Type1 subfamily

Chromosomal Location of Human Ortholog: 10q22.3

Cellular Component: cell soma; dendrite; integral to membrane; plasma membrane; caveola

Molecular Function: transforming growth factor beta receptor activity; protein serine/threonine kinase activity; protein binding; protein homodimerization activity; metal ion binding; SMAD binding; transmembrane receptor protein serine/threonine kinase activity; ATP binding; receptor signaling protein serine/threonine kinase activity

Biological Process: neural plate mediolateral pattern formation; transcription from RNA polymerase II promoter; hindlimb morphogenesis; developmental growth; neural crest cell development; positive regulation of transcription, DNA-dependent; mesendoderm development; paraxial mesoderm structural organization; dorsal/ventral axis specification; palate development; protein amino acid phosphorylation; negative regulation of neurogenesis; BMP signaling pathway; transforming growth factor beta receptor signaling pathway; positive regulation of mesenchymal cell proliferation; ectoderm development; Mullerian duct regression; somitogenesis; in utero embryonic development; lateral mesoderm development; stem cell maintenance; positive regulation of bone mineralization; odontogenesis of dentine-containing teeth; positive regulation of osteoblast differentiation; mesoderm formation; pituitary gland development; cartilage development; embryonic organ development; immune response; embryonic digit morphogenesis; positive regulation of epithelial cell proliferation; regulation of lateral mesodermal cell fate specification; lung development

Disease: Juvenile Polyposis Syndrome; Polyposis Syndrome, Hereditary Mixed, 2