Bone Morphogenetic Protein Receptor 1B (BMPR1B)

CDw293; CD293; BMPR1-B; ALK6

SPN	W082
HGNC	1077
MGI	107191
PubMed	15805157
RGD	1595863
UniProt	O00238
Wiki	BMPR1B

In the chick embryo, it has been shown that BMPR1B is found in precartilaginous condensations.BMPR1B is the major transducer of signals in these condensations as demonstrated in experiments using constitutively active BMPR1B receptors. BMPR1B is a more effective trasducer of GDF5 than BMPR1A.Unlike BMPR1A null mice, which die at an early embryonic stage, BMPR1B null mice are viable.

The deduced protein contains an atypical N-terminal signal sequence, a small hydrophilic cysteine-rich ligand-binding domain, a transmembrane region, and an intracellular kinase domain. Mouse and human BMPR1B are highly conserved, and BMPR1B is most closely related to BMPR1A.

Reference

"Cloning of human bone morphogenetic protein type IB receptor (BMPR-IB) and its expression in prostate cancer in comparison with other BMPRs."
Oncogene 14:1377-1382(1997) [PubMed] [Europe PMC] [Abstract]

"Chromosomal localization of three human genes encoding bone morphogenetic protein receptors."
Mamm. Genome 10:299-302(1999) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A GDF5 point mutation strikes twice--causing BDA1 and SYNS2."
PLoS Genet. 9:E1003846-E1003846(2013) [PubMed] [Europe PMC] [Abstract]

"Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2."
Proc. Natl. Acad. Sci. U.S.A. 100:12277-12282(2003) [PubMed] [Europe PMC] [Abstract]

"A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies."
J. Med. Genet. 42:314-317(2005) [PubMed] [Europe PMC] [Abstract]

"A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2."
Eur. J. Hum. Genet. 14:1248-1254(2006) [PubMed] [Europe PMC] [Abstract]

"Patterns of somatic mutation in human cancer genomes."
Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]