BMPR1A gene
bone morphogenetic protein receptor type 1A
The BMPR1A gene provides instructions for making a protein called bone morphogenetic protein receptor 1A. This receptor protein has a specific site into which certain other proteins, called ligands, fit like keys into locks. Specifically, the BMPR1A protein attaches (binds) to ligands in the transforming growth factor beta (TGF-β) pathway. This signaling pathway allows the environment outside the cell to affect how the cell produces other proteins. The BMPR1A receptor protein and its ligands are involved in transmitting chemical signals from the cell membrane to the nucleus.
When the BMPR1A protein is bound to a ligand, it turns on (activates) a group of related proteins (a protein complex) called SMAD proteins. The activated SMAD protein complex is then transported into the cell's nucleus, where it regulates cell growth and division (proliferation) and the activity of particular genes.
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More than 60 mutations in the BMPR1A gene have been found to cause juvenile polyposis syndrome. Most BMPR1A gene mutations result in the production of an abnormally short, nonfunctional protein. As a result, the BMPR1A protein cannot bind to ligands in the TGF-β pathway. This disruption in binding interferes with the activation of the SMAD protein complex. This inactive complex is not transported to the nucleus, where it is needed to regulate cell growth and the activity of certain genes. Unregulated cell growth can lead to polyp formation in people with juvenile polyposis syndrome.
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Cytogenetic Location: 10q23.2, which is the long (q) arm of chromosome 10 at position 23.2
Molecular Location: base pairs 86,755,786 to 86,927,969 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)
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- activin A receptor, type II-like kinase 3
- ACVRLK3
- ALK3
- BMR1A_HUMAN
- bone morphogenetic protein receptor type IA
- bone morphogenetic protein receptor, type IA
- bone morphogenetic protein receptor, type IA precursor
- CD292
- serine/threonine-protein kinase receptor R5
- SKR5
Related Information
- Aretz S, Stienen D, Uhlhaas S, Stolte M, Entius MM, Loff S, Back W, Kaufmann A, Keller KM, Blaas SH, Siebert R, Vogt S, Spranger S, Holinski-Feder E, Sunde L, Propping P, Friedl W. High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet. 2007 Nov;44(11):702-9. Epub 2007 Sep 14.
- OMIM: BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IA
- Calva-Cerqueira D, Chinnathambi S, Pechman B, Bair J, Larsen-Haidle J, Howe JR. The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet. 2009 Jan;75(1):79-85. doi: 10.1111/j.1399-0004.2008.01091.x. Epub 2008 Sep 24.
- Howe JR, Bair JL, Sayed MG, Anderson ME, Mitros FA, Petersen GM, Velculescu VE, Traverso G, Vogelstein B. Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis. Nat Genet. 2001 Jun;28(2):184-7.
- Howe JR, Sayed MG, Ahmed AF, Ringold J, Larsen-Haidle J, Merg A, Mitros FA, Vaccaro CA, Petersen GM, Giardiello FM, Tinley ST, Aaltonen LA, Lynch HT. The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. J Med Genet. 2004 Jul;41(7):484-91.
- Pyatt RE, Pilarski R, Prior TW. Mutation screening in juvenile polyposis syndrome. J Mol Diagn. 2006 Feb;8(1):84-8.