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: Kinase, protein; Protein kinase, TKL; Membrane protein, integral; Protein kinase, Ser/Thr (receptor); EC 2.7.11.30; 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; ATP binding; transmembrane receptor protein serine/threonine kinase activity; receptor signaling protein serine/threonine kinase activity
Biological Process: transcription from RNA polymerase II promoter; neural plate mediolateral pattern formation; 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
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