Bone Morphogenetic Protein 1 (BMP1)

PCOLC; PCP; TLD; mTld; Procollagen C Proteinase; Mammalian tolloid protein

SPN	W158
HGNC	1067
MGI	88176
PubMed	16622848
RGD	620739
UniProt	P13497
Wiki	BMP1

The BMP1 locus encodes a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, BMP1 encodes a protein that is not closely related to other known growth factors.

BMP1 protein and procollagen C proteinase (PCP), a secreted metalloprotease requiring calcium and needed for cartilage and bone formation, are identical. PCP or BMP1 protein cleaves the C-terminal propeptides of procollagen I, II, and III and its activity is increased by the procollagen C-endopeptidase enhancer protein. The BMP1 gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region.

Reference

"The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1."
Proc. Natl. Acad. Sci. U.S.A. 93:5127-5130(1996) [PubMed] [Europe PMC] [Abstract]

"Novel regulators of bone formation: molecular clones and activities."
Science 242:1528-1534(1988) [PubMed] [Europe PMC] [Abstract]

"Three alternatively spliced variants of the gene coding for the human bone morphogenetic protein-1."
J. Mol. Med. 76:141-146(1998) [PubMed] [Europe PMC] [Abstract]

"Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues."
J. Biol. Chem. 269:32572-32578(1994) [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]

"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]

"Identification of amino acid residues in bone morphogenetic protein-1 important for procollagen C-proteinase activity."
J. Biol. Chem. 276:26237-26242(2001) [PubMed] [Europe PMC] [Abstract]

"Paired basic/Furin-like proprotein convertase cleavage of Pro-BMP-1 in the trans-Golgi network."
J. Biol. Chem. 278:18478-18484(2003) [PubMed] [Europe PMC] [Abstract]

"An unappreciated role for RNA surveillance."
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]

"Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases."
J. Mol. Biol. 384:228-239(2008) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]

"Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish."
Am. J. Hum. Genet. 90:661-674(2012) [PubMed] [Europe PMC] [Abstract]

"Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta."
Hum. Mutat. 33:343-350(2012) [PubMed] [Europe PMC] [Abstract]

"Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta."
Hum. Mutat. 36:191-195(2015) [PubMed] [Europe PMC] [Abstract]