Bone Morphogenetic Protein Receptor 1A (BMPR1A)

CD292; ACVRLK3; ALK3; SKR5; BMPR1-A; Activin A Receptor, Type Ii-Like Kinase 3; Activin Receptor-Like Kinase 3; Serine/Threonine-Protein Kinase Receptor R5

SPN	W691
HGNC	1076
MGI	1338938
PubMed	15235019
RGD	70989
UniProt	P36894
Wiki	BMPR1A

The bone morphogenetic protein (BMP) receptors are a family of transmembrane serine/threonine kinases that include the type I receptors BMPR1A (this protein) 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.

Reference

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Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

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Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

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PLoS Genet. 9:E1003846-E1003846(2013) [PubMed] [Europe PMC] [Abstract]

"Crystal structure of the BMP-2-BRIA ectodomain complex."
Nat. Struct. Biol. 7:492-496(2000) [PubMed] [Europe PMC] [Abstract]

"Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis."
Nat. Genet. 28:184-187(2001) [PubMed] [Europe PMC] [Abstract]

"Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes."
Am. J. Hum. Genet. 69:704-711(2001) [PubMed] [Europe PMC] [Abstract]

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"Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers."
Hum. Genet. 111:108-111(2002) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation."
Clin. Genet. 63:126-130(2003) [PubMed] [Europe PMC] [Abstract]

"Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes."
Am. J. Hum. Genet. 78:1066-1074(2006) [PubMed] [Europe PMC] [Abstract]

"Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function."
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"Patterns of somatic mutation in human cancer genomes."
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]