BMP1

BMP1 is a protein that is capable of inducing formation of cartilage in vivo. Although other bone morphogenetic proteins are members of the TGF-beta superfamily, this gene encodes a protein that is not closely related to other known growth factors. This gene is expressed as alternatively spliced variants that share an N-terminal protease domain but differ in their C-terminal region.

Bone Morphogenetic Protein 1

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:33169406, PubMed:32636307).
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.

Cartilage condensation Source: ProtInc
Cell differentiation Source: UniProtKB-KW
Collagen fibril organization Source: Reactome
Extracellular matrix disassembly Source: Reactome
High-density lipoprotein particle assembly Source: Reactome
Multicellular organism development Source: ProtInc
Ossification Source: UniProtKB-KW
Positive regulation of cartilage development Source: MGI
Proteolysis Source: UniProtKB
Skeletal system development Source: ProtInc

Trans-Golgi network; Extracellular matrix; Secreted. Co-localizes with POSTN in the Golgi.
Isoform BMP1-3: Secreted

Osteogenesis imperfecta 13 (OI13): 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.

Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.