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. Note: This description may include information from UniProtKB.
Protein type: EC 2.7.11.30; Kinase, protein; Membrane protein, integral; Protein kinase, Ser/Thr (receptor); Protein kinase, TKL; STKR family; TKL group; Type1 subfamily
Chromosomal Location of Human Ortholog: 10q23.2
Cellular Component:  caveola; cell soma; dendrite; external side of plasma membrane; HFE-transferrin receptor complex; integral component of membrane; integral component of plasma membrane; plasma membrane; receptor complex
Molecular Function:  ATP binding; BMP receptor activity; growth factor binding; metal ion binding; protein binding; protein homodimerization activity; protein serine/threonine kinase activity; SMAD binding; transforming growth factor beta receptor activity, type I; transforming growth factor beta-activated receptor activity; transmembrane receptor protein serine/threonine kinase activity
Biological Process:  BMP signaling pathway; cardiac conduction system development; cardiac right ventricle morphogenesis; cellular response to BMP stimulus; chondrocyte differentiation; developmental growth; dorsal/ventral axis specification; ectoderm development; embryonic digit morphogenesis; embryonic organ development; endocardial cushion formation; endocardial cushion morphogenesis; fibrous ring of heart morphogenesis; hindlimb morphogenesis; immune response; in utero embryonic development; lateral mesoderm development; lung development; mesendoderm development; mesoderm formation; mitral valve morphogenesis; Mullerian duct regression; negative regulation of neurogenesis; negative regulation of smooth muscle cell migration; neural crest cell development; neural plate mediolateral regionalization; odontogenesis of dentine-containing teeth; outflow tract morphogenesis; outflow tract septum morphogenesis; palate development; paraxial mesoderm structural organization; pattern specification process; pituitary gland development; positive regulation of bone mineralization; positive regulation of cardiac muscle cell proliferation; positive regulation of cardiac ventricle development; positive regulation of epithelial cell proliferation; positive regulation of mesenchymal cell proliferation; positive regulation of osteoblast differentiation; positive regulation of pathway-restricted SMAD protein phosphorylation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of vascular smooth muscle cell proliferation; protein amino acid phosphorylation; regulation of cardiac muscle cell apoptotic process; regulation of cardiac muscle cell proliferation; regulation of cellular senescence; regulation of lateral mesodermal cell fate specification; regulation of neural crest cell differentiation; somitogenesis; stem cell maintenance; transforming growth factor beta receptor signaling pathway; tricuspid valve morphogenesis; ventricular compact myocardium morphogenesis; ventricular trabecula myocardium morphogenesis
Disease: Juvenile Polyposis Syndrome; Polyposis Syndrome, Hereditary Mixed, 2
Reference #:  P36894 (UniProtKB)
Alt. Names/Synonyms: 10q23del; activin A receptor, type II-like kinase 3; Activin receptor-like kinase 3; ACVRLK3; ALK-3; ALK3; BMP type-1A receptor; BMPR-1A; BMPR1A; BMPRIA; BMR1A; Bone morphogenetic protein receptor type-1A; bone morphogenetic protein receptor, type IA; CD292; Serine/threonine-protein kinase receptor R5; SKR5
Gene Symbols: BMPR1A
Molecular weight: 60,198 Da
Basal Isoelectric point: 7.71  Predict pI for various phosphorylation states
Select Structure to View Below

BMPR1A

Protein Structure Not Found.


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