MGP Database

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MGP000320

UniProt Annotations

Entry Information
Gene Namebone morphogenetic protein 1
Protein EntryBMP1_HUMAN
UniProt IDP13497
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=7; Name=BMP1-3; IsoId=P13497-1; Sequence=Displayed; Name=BMP1-1; IsoId=P13497-2; Sequence=VSP_005461, VSP_005462; Name=BMP1-2; IsoId=P13497-7; Sequence=Not described; Name=BMP1-4; IsoId=P13497-3; Sequence=VSP_005463, VSP_005464; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=BMP1-5; IsoId=P13497-4; Sequence=VSP_005465, VSP_005466; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=BMP1-6; IsoId=P13497-5; Sequence=VSP_005467, VSP_005468; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=BMP1-7; IsoId=P13497-6; Sequence=VSP_005469, VSP_005470;
Catalytic ActivityCleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.
CofactorName=Zn(2+); Xref=ChEBI:CHEBI:29105; Evidence={ECO:0000269|PubMed:18824173}; Note=Binds 1 zinc ion per subunit. {ECO:0000269|PubMed:18824173};
DiseaseOsteogenesis imperfecta 13 (OI13) [MIM:614856]: An autosomal recessive form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI13 is characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, severe bone deformity, and recurrent fractures affecting both upper and lower limbs. {ECO:0000269|PubMed:22052668, ECO:0000269|PubMed:22482805}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme RegulationActivity is increased by the procollagen C- endopeptidase enhancer protein.
FunctionCleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX.
PtmProteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion. {ECO:0000269|PubMed:12637569}.
SimilarityBelongs to the peptidase M12A family. {ECO:0000305}.
SimilarityContains 2 EGF-like domains. {ECO:0000255|PROSITE- ProRule:PRU00076}.
SimilarityContains 5 CUB domains. {ECO:0000255|PROSITE- ProRule:PRU00059}.
Subcellular LocationGolgi apparatus, trans-Golgi network {ECO:0000269|PubMed:12637569}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12637569}. Note=Co- localizes with POSTN in the Golgi. {ECO:0000250}.
SubunitInteracts with POSTN, the interaction promotes deposition on the extracellular matrix. {ECO:0000250}.
Tissue SpecificityUbiquitous.
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