The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)



Gene Review

BMPR1A  -  bone morphogenetic protein receptor, type IA

Homo sapiens

Synonyms: 10q23del, ACVRLK3, ALK-3, ALK3, Activin receptor-like kinase 3, ...
Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of BMPR1A


High impact information on BMPR1A

  • Expression of constitutively active activin receptor-like kinase 3 (ALK3CA) induced chondrocyte-specific gene expression in SFs cultured in pellets or in SF pellets transplanted into nude mice, in which both the Smad and p38 pathways are essential [5].
  • These results suggest that SFs can be differentiated into chondrocytes via ALK3 activation and that stimulating Smad pathways and controlling p38 activation at the proper level can be a good therapeutic strategy for maintaining the healthy joint homeostasis and treating degenerative joint disorders [5].
  • Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy [6].
  • One proband with CS/CS-like phenotype was also found to have a germline BMPR1A missense mutation (A338D) [7].
  • Almost all available component tumors from mutation-positive cases showed loss of heterozygosity (LOH) in the BMPR1A region, whereas those from mutation-negative cases did not [7].

Biological context of BMPR1A

  • Thus, germline BMPR1A mutations cause a significant proportion of cases of JPS and might define a small subset of cases of CS/BRRS with specific colonic phenotype [7].
  • Recently, germline mutations in BMPR1A, the gene encoding the type 1A receptor of bone morphogenetic proteins (BMP) have been found in rare families with Cowden syndrome, suggesting that there may be a link between BMP signaling and PTEN [8].
  • A processed BMPR1A pseudogene was mapped to 6q23 [9].
  • These assays were also performed after transfection with a dominant negative (DN) BMPR1A construct [1].
  • METHODS: DNA was extracted from 54 JP probands and used for polymerase chain reaction of all exons of SMAD4 and BMPR1A [10].

Anatomical context of BMPR1A


Associations of BMPR1A with chemical compounds

  • Mutations in SMAD4 and BMPR1A, implicated in the Transforming Growth Factor beta pathway, have recently been characterized, and hold significance in the management of patients and at risk family members [14].
  • Blockage of ligand-receptor binding using extracellular domain (ECD) of BMP type I receptors revealed that ECDs to activin receptor-like kinase (ALK)-2 and ALK-3 significantly reduced the aldosterone production induced by Ang II [15].

Physical interactions of BMPR1A

  • Using the structure of BMP-2 bound to its type I receptor (ALK3) as a guide, we introduced mutations in the context of the inhibin betaA cDNA and assessed the signaling activity of the resulting mutant proteins [16].

Regulatory relationships of BMPR1A

  • We determined the presence and functionality of BMPR1A by examining BMP-induced phosphorylation and nuclear translocation of SMAD1; transcriptional activity via a BMP-specific luciferase reporter; and growth characteristics by cell cycle analysis, cell growth, and 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide metabolic assays [1].

Other interactions of BMPR1A


Analytical, diagnostic and therapeutic context of BMPR1A


  1. Bone morphogenetic protein signaling and growth suppression in colon cancer. Beck, S.E., Jung, B.H., Fiorino, A., Gomez, J., Rosario, E.D., Cabrera, B.L., Huang, S.C., Chow, J.Y., Carethers, J.M. Am. J. Physiol. Gastrointest. Liver Physiol. (2006) [Pubmed]
  2. Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. Handra-Luca, A., Condroyer, C., de Moncuit, C., Tepper, M., Fléjou, J.F., Thomas, G., Olschwang, S. Am. J. Med. Genet. A (2005) [Pubmed]
  3. Genetic testing in colorectal cancer: who, when, how and why. Davidson, N.O. The Keio journal of medicine (2007) [Pubmed]
  4. Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases. Karoui, M., Tresallet, C., Julie, C., Zimmermann, U., Staroz, F., Brams, A., Muti, C., Boulard, C., Robreau, A.M., Puy, H., Malafosse, R., Penna, C., Pruvot, F.R., Thiery, J.P., Boileau, C., Rougier, P., Nordlinger, B., Radvanyi, F., Franc, B., Hofmann-Radvanyi, H. Br. J. Cancer (2004) [Pubmed]
  5. Distinct roles of Smad pathways and p38 pathways in cartilage-specific gene expression in synovial fibroblasts. Seto, H., Kamekura, S., Miura, T., Yamamoto, A., Chikuda, H., Ogata, T., Hiraoka, H., Oda, H., Nakamura, K., Kurosawa, H., Chug, U.I., Kawaguchi, H., Tanaka, S. J. Clin. Invest. (2004) [Pubmed]
  6. Deletion of PTEN and BMPR1A on chromosome 10q23 is not always associated with juvenile polyposis of infancy. Salviati, L., Patricelli, M., Guariso, G., Sturniolo, G.C., Alaggio, R., Bernardi, F., Zuffardi, O., Tenconi, R. Am. J. Hum. Genet. (2006) [Pubmed]
  7. Germline mutations in BMPR1A/ALK3 cause a subset of cases of juvenile polyposis syndrome and of Cowden and Bannayan-Riley-Ruvalcaba syndromes. Zhou, X.P., Woodford-Richens, K., Lehtonen, R., Kurose, K., Aldred, M., Hampel, H., Launonen, V., Virta, S., Pilarski, R., Salovaara, R., Bodmer, W.F., Conrad, B.A., Dunlop, M., Hodgson, S.V., Iwama, T., Järvinen, H., Kellokumpu, I., Kim, J.C., Leggett, B., Markie, D., Mecklin, J.P., Neale, K., Phillips, R., Piris, J., Rozen, P., Houlston, R.S., Aaltonen, L.A., Tomlinson, I.P., Eng, C. Am. J. Hum. Genet. (2001) [Pubmed]
  8. BMP2 exposure results in decreased PTEN protein degradation and increased PTEN levels. Waite, K.A., Eng, C. Hum. Mol. Genet. (2003) [Pubmed]
  9. Chromosomal localization of three human genes encoding bone morphogenetic protein receptors. Aström, A.K., Jin, D., Imamura, T., Röijer, E., Rosenzweig, B., Miyazono, K., ten Dijke, P., Stenman, G. Mamm. Genome (1999) [Pubmed]
  10. Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. Sayed, M.G., Ahmed, A.F., Ringold, J.R., Anderson, M.E., Bair, J.L., Mitros, F.A., Lynch, H.T., Tinley, S.T., Petersen, G.M., Giardiello, F.M., Vogelstein, B., Howe, J.R. Ann. Surg. Oncol. (2002) [Pubmed]
  11. Pathobiology of pulmonary arterial hypertension. Naeije, R., Rondelet, B. Bull. Mem. Acad. R. Med. Belg. (2004) [Pubmed]
  12. Expression of bone morphogenetic proteins in stromal cells from human bone marrow long-term culture. Martinovic, S., Mazic, S., Kisic, V., Basic, N., Jakic-Razumovic, J., Borovecki, F., Batinic, D., Simic, P., Grgurevic, L., Labar, B., Vukicevic, S. J. Histochem. Cytochem. (2004) [Pubmed]
  13. Bone morphogenetic protein receptor 1A signaling is dispensable for hematopoietic development but essential for vessel and atrioventricular endocardial cushion formation. Park, C., Lavine, K., Mishina, Y., Deng, C.X., Ornitz, D.M., Choi, K. Development (2006) [Pubmed]
  14. A review of juvenile polyposis syndrome. Chow, E., Macrae, F. J. Gastroenterol. Hepatol. (2005) [Pubmed]
  15. Involvement of bone morphogenetic protein-6 in differential regulation of aldosterone production by angiotensin II and potassium in human adrenocortical cells. Inagaki, K., Otsuka, F., Suzuki, J., Kano, Y., Takeda, M., Miyoshi, T., Otani, H., Mimura, Y., Ogura, T., Makino, H. Endocrinology (2006) [Pubmed]
  16. An activin mutant with disrupted ALK4 binding blocks signaling via type II receptors. Harrison, C.A., Gray, P.C., Fischer, W.H., Donaldson, C., Choe, S., Vale, W. J. Biol. Chem. (2004) [Pubmed]
  17. Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. Kim, I.J., Park, J.H., Kang, H.C., Kim, K.H., Kim, J.H., Ku, J.L., Kang, S.B., Park, S.Y., Lee, J.S., Park, J.G. Clin. Genet. (2003) [Pubmed]
  18. Tumor-specific expression and alternate splicing of messenger ribonucleic acid encoding activin/transforming growth factor-beta receptors in human pituitary adenomas. Alexander, J.M., Bikkal, H.A., Zervas, N.T., Laws, E.R., Klibanski, A. J. Clin. Endocrinol. Metab. (1996) [Pubmed]
  19. BMP-2/ALK3 and HGF signal in parallel to regulate renal collecting duct morphogenesis. Gupta, I.R., Macias-Silva, M., Kim, S., Zhou, X., Piscione, T.D., Whiteside, C., Wrana, J.L., Rosenblum, N.D. J. Cell. Sci. (2000) [Pubmed]
  20. ALK2 functions as a BMP type I receptor and induces Indian hedgehog in chondrocytes during skeletal development. Zhang, D., Schwarz, E.M., Rosier, R.N., Zuscik, M.J., Puzas, J.E., O'Keefe, R.J. J. Bone Miner. Res. (2003) [Pubmed]
  21. Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23-->q24 byin situ hybridization and radiation hybrid map ping. Ide, H., Saito-Ohara, F., Ohnami, S., Osada, Y., Ikeuchi, T., Yoshida, T., Terada, M. Cytogenet. Cell Genet. (1998) [Pubmed]
WikiGenes - Universities