BMP1: Bone Morphogenetic Protein 1
A key metalloprotease in extracellular matrix assembly and TGF-β activation
Gene Information Card
| Symbol | BMP1 |
|---|---|
| Full Name | Bone Morphogenetic Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 649 ncbi.nlm.nih.gov/gene/649 |
| Ensembl ID | ENSG00000168487 |
| UniProt ID | P13497 |
| OMIM ID | 112264 |
| HGNC ID | 1067 |
| Aliases | PCP, TLD, mTld, BMP-1, procollagen C-proteinase |
Description
BMP1 encodes a secreted metalloprotease that cleaves procollagens to produce mature collagen fibrils, activates TGF-β superfamily members, and regulates extracellular matrix assembly. It is essential for bone formation, skin integrity, and connective tissue homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis imperfecta type XIII | Loss-of-function mutations impair procollagen processing, leading to brittle bones | ClinVar, OMIM |
| Fibrosis (liver, lung, kidney) | Overexpression of BMP1 enhances collagen deposition and TGF-β activation | NCBI, PubMed |
| Cancer (breast, pancreatic, melanoma) | BMP1 promotes tumor invasion and metastasis via ECM remodeling | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Liver | 9.8 | Medium |
| Skin | 15.2 | High |
| Bone | 18.7 | High |
| Heart | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 14.1 | High expression |
| HepG2 (hepatocellular carcinoma) | 10.5 | Medium expression |
| MCF7 (breast cancer) | 8.2 | Medium expression |
| SK-MEL-28 (melanoma) | 16.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.808C>T (p.Arg270Cys) | Missense | Rare | Loss of function; associated with osteogenesis imperfecta |
| c.1210G>A (p.Gly404Ser) | Missense | Rare | Reduced procollagen C-proteinase activity |
| c.1465_1466insA | Frameshift | Very rare | Premature truncation; severe bone phenotype |
Mutation functional classification
Loss of Function (LOF)
Most BMP1 mutations in osteogenesis imperfecta are loss-of-function, impairing collagen processing and bone strength.
Gain of Function (GOF)
Overexpression in fibrotic diseases and cancers leads to excessive ECM deposition and tumor progression.
Dominant Negative (DN)
Some missense mutations may act dominant-negative by interfering with dimerization or substrate binding.
View complete mutation data：
Gene Ontology (GO)
| • metalloendopeptidase activity | • extracellular matrix organization |
| • collagen biosynthetic process | • bone morphogenesis |
| • TGF-β activation | • procollagen C-proteinase activity |
Pathways
• Collagen biosynthesis and modifying enzymes
• TGF-β signaling pathway
• Extracellular matrix organization
• Proteoglycans in cancer
Protein Summary
BMP1 is a 730-amino acid secreted metalloprotease containing a prodomain, a catalytic domain with a zinc-binding motif, and C-terminal CUB and EGF-like domains. It processes procollagens I–III, activates latent TGF-β, and cleaves other ECM components. Its activity is critical for skeletal development, wound healing, and tissue fibrosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BMP1 Knockout HEK293 Cell Line | EDJ-KQ4138 | Human | 649 | Details Get a Quote |
| BMP15 Knockout HEK293 Cell Line | EDJ-KQ6500 | Human | 9210 | Details Get a Quote |
| BMP10 Knockout HEK293 Cell Line | EDJ-KQ8000 | Human | 27302 | Details Get a Quote |
| BMP1 Knockout HCT 116 Cell Line | EDJ-KQ25229 | Human | 649 | Details Get a Quote |
| BMP1 Knockout A-549 Cell Line | EDJ-KQ26564 | Human | 649 | Details Get a Quote |
| BMP1 Knockout HeLa Cell Line | EDJ-KQ26566 | Human | 649 | Details Get a Quote |
| BMP15 Knockout HeLa Cell Line | EDJ-KQ55102 | Human | 9210 | Details Get a Quote |
| BMP10 Knockout HeLa Cell Line | EDJ-KQ56054 | Human | 27302 | Details Get a Quote |
| BMP15 Knockout A-549 Cell Line | EDJ-KQ63584 | Human | 9210 | Details Get a Quote |
| BMP10 Knockout A-549 Cell Line | EDJ-KQ64538 | Human | 27302 | Details Get a Quote |
| BMP15 Knockout HCT 116 Cell Line | EDJ-KQ72049 | Human | 9210 | Details Get a Quote |
| BMP10 Knockout HCT 116 Cell Line | EDJ-KQ72996 | Human | 27302 | Details Get a Quote |
