BMPR1B
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Bone morphogenetic protein receptor type-1B also known as CDw293 (cluster of differentiation w293) is a protein that in humans is encoded by the BMPR1B gene.{{cite journal | vauthors = ten Dijke P, Yamashita H, Ichijo H, Franzén P, Laiho M, Miyazono K, Heldin CH | title = Characterization of type I receptors for transforming growth factor-beta and activin | journal = Science | volume = 264 | issue = 5155 | pages = 101–4 |date=April 1994 | pmid = 8140412 | doi = 10.1126/science.8140412| bibcode = 1994Sci...264..101T }}{{cite journal | vauthors = Ide H, Saito-Ohara F, Ohnami S, Osada Y, Ikeuchi T, Yoshida T, Terada M | title = Assignment of the BMPR1A and BMPR1B genes to human chromosome 10q22.3 and 4q23→q24 byin situ hybridization and radiation hybrid map ping | journal = Cytogenet. Cell Genet. | volume = 81 | issue = 3–4 | pages = 285–6 | year = 1998 | pmid = 9730621 | doi = 10.1159/000015048| s2cid = 46751090 }}
Function
BMPR1B is a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 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.{{cite web | title = Entrez Gene: bone morphogenetic protein receptor| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=658}}
The BMPR1B receptor plays a role in the formation of middle and proximal phalanges.{{cite journal |author1-link=Yuji Mishina | vauthors = Mishina Y, Starbuck MW, Gentile MA, Fukuda T, Kasparcova V, Seedor JG, Hanks MC, Amling M, Pinero GJ, Harada S, Behringer RR | title = Bone morphogenetic protein type IA receptor signaling regulates postnatal osteoblast function and bone remodeling | journal = J. Biol. Chem. | volume = 279 | issue = 26 | pages = 27560–6 | year = 2004 | pmid = 15090551 | doi = 10.1074/jbc.M404222200 | doi-access = free }}
Clinical significance
Mutations in this gene have been associated with primary pulmonary hypertension.
In the chick embryo, it has been shown that BMPR1B is found in precartilaginous condensations.{{cite journal | vauthors = Yoon BS, Ovchinnikov DA, Yoshii I, Mishina Y, Behringer RR, Lyons KM | title = Bmpr1a and Bmpr1b have overlapping functions and are essential for chondrogenesis in vivo | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 102 | issue = 14 | pages = 5062–7 | year = 2005 | pmid = 15781876 | doi = 10.1073/pnas.0500031102 | pmc = 555995 | bibcode = 2005PNAS..102.5062Y | doi-access = free }} BMPR1B is the major transducer of signals in these condensations as demonstrated in experiments using constitutively active BMPR1B receptors. BMPR1B is a more effective transducer of GDF5 than BMPR1A. Unlike BMPR1A null mice, which die at an early embryonic stage, BMPR1B null mice are viable.
References
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External links
- {{MeshName|BMPR1B+protein,+human}}
- {{UCSC gene info|BMPR1B}}
{{Clusters of differentiation}}
{{TGF beta signaling}}
{{Serine/threonine-specific protein kinases}}
{{Enzymes}}
{{TGFβ receptor superfamily modulators}}
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{{NLM content}}
Category:Bone morphogenetic protein
Category:Clusters of differentiation