BMP1
Function
Metalloprotease that plays key roles in regulating the formation of the extracellular matrix (ECM) via processing of various precursor proteins into mature functional enzymes or structural proteins (PubMed:33206546). Thereby participates in several developmental and physiological processes such as cartilage and bone formation, muscle growth and homeostasis, wound healing and tissue repair (PubMed:32636307, PubMed:33169406). Roles in ECM formation include cleavage of the C-terminal propeptides from procollagens such as procollagen I, II and III or the proteolytic activation of the enzyme lysyl oxidase LOX, necessary to formation of covalent cross-links in collagen and elastic fibers (PubMed:31152061, PubMed:33206546). Additional substrates include matricellular thrombospondin-1/THBS1 whose cleavage leads to cell adhesion disruption and TGF-beta activation (PubMed:32636307).
Isoform BMP1-3
Plays an important role in bone repair by acting as a coactivator of BMP7.
Involvement in disease
Osteogenesis imperfecta 13
OI13
An autosomal recessive form of osteogenesis imperfecta, a disorder of bone formation 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, severe bone deformity, and recurrent fractures affecting both upper and lower limbs.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.
Tissue Specificity
Ubiquitous.
Cellular localization
- Golgi apparatus
- trans-Golgi network
- Secreted
- Extracellular space
- Extracellular matrix
- Secreted
- Co-localizes with POSTN in the Golgi.
- Isoform BMP1-3
- Secreted
Alternative names
PCOLC, BMP1, Bone morphogenetic protein 1, BMP-1, Mammalian tolloid protein, Procollagen C-proteinase, mTld, PCP