BMP1

Chr 8p21.3

bone morphogenetic protein 1

Aliases:: BMP-1
MANE:: ENST00000306385.10

OMIM: 112264 ↗NCBI: 649 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

BMP1 · P13497

v62025-08-01

Predicted Aligned Error matrix for BMP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.4/ 100

Confident

986 residues

Confidence breakdown

Very high(≥ 90)44%
Confident(70–90)41%
Low(50–70)3%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

osteogenesis imperfecta
0.68
osteogenesis imperfecta type 3
0.41
osteogenesis imperfecta, recessive
0.37
high bone mass osteogenesis imperfecta
0.37
coronary artery disorder
0.31
Abnormality of the skeletal system
0.27
coronary atherosclerosis
0.22
cardiovascular disorder
0.22
myocardial infarction
0.22
hereditary disease
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

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: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)