BMP1
Bone morphogenetic protein 1
Also known as: BMP-1, BMP1_HUMAN, PCOLC
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P13497
- Gene
- BMP1
- Ensembl
- ENSG00000168487
- Chromosome
- 8
- Canonical length
- 986 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted secreted proteins
- Secretome location
- Secreted to extracellular matrix
OverviewNCBI Gene
This gene encodes 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. [provided by RefSeq, Aug 2008]
Canonical amino-acid sequenceUniProt
986 residues, UniProt reviewed canonical sequence.
>P13497|BMP1
1 MPGVARLPLL LGLLLLPRPG RPLDLADYTY DLAEEDDSEP LNYKDPCKAA AFLGDIALDE
61 EDLRAFQVQQ AVDLRRHTAR KSSIKAAVPG NTSTPSCQST NGQPQRGACG RWRGRSRSRR
121 AATSRPERVW PDGVIPFVIG GNFTGSQRAV FRQAMRHWEK HTCVTFLERT DEDSYIVFTY
181 RPCGCCSYVG RRGGGPQAIS IGKNCDKFGI VVHELGHVVG FWHEHTRPDR DRHVSIVREN
241 IQPGQEYNFL KMEPQEVESL GETYDFDSIM HYARNTFSRG IFLDTIVPKY EVNGVKPPIG
301 QRTRLSKGDI AQARKLYKCP ACGETLQDST GNFSSPEYPN GYSAHMHCVW RISVTPGEKI
361 ILNFTSLDLY RSRLCWYDYV EVRDGFWRKA PLRGRFCGSK LPEPIVSTDS RLWVEFRSSS
421 NWVGKGFFAV YEAICGGDVK KDYGHIQSPN YPDDYRPSKV CIWRIQVSEG FHVGLTFQSF
481 EIERHDSCAY DYLEVRDGHS ESSTLIGRYC GYEKPDDIKS TSSRLWLKFV SDGSINKAGF
541 AVNFFKEVDE CSRPNRGGCE QRCLNTLGSY KCSCDPGYEL APDKRRCEAA CGGFLTKLNG
601 SITSPGWPKE YPPNKNCIWQ LVAPTQYRIS LQFDFFETEG NDVCKYDFVE VRSGLTADSK
661 LHGKFCGSEK PEVITSQYNN MRVEFKSDNT VSKKGFKAHF FSDKDECSKD NGGCQQDCVN
721 TFGSYECQCR SGFVLHDNKH DCKEAGCDHK VTSTSGTITS PNWPDKYPSK KECTWAISST
781 PGHRVKLTFM EMDIESQPEC AYDHLEVFDG RDAKAPVLGR FCGSKKPEPV LATGSRMFLR
841 FYSDNSVQRK GFQASHATEC GGQVRADVKT KDLYSHAQFG DNNYPGGVDC EWVIVAEEGY
901 GVELVFQTFE VEEETDCGYD YMELFDGYDS TAPRLGRYCG SGPPEEVYSA GDSVLVKFHS
961 DDTITKKGFH LRYTSTKFQD TLHSRKLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BMP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Secreted
- Secreted
- Yes
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 26 nTPM
Expression across tissuesHPA
Tissue
- placenta: 26 nTPM
- adrenal gland: 21 nTPM
- liver: 16 nTPM
- blood vessel: 16 nTPM
- cervix: 13 nTPM
- smooth muscle: 13 nTPM
Single-cell type
- alveolar cells type 2: 332 nCPM
- podocytes: 67 nCPM
- decidual stromal cells: 66 nCPM
- epicardial cells: 59 nCPM
- adrenal cortex cells: 54 nCPM
- hepatic stellate cells: 52 nCPM
Immune cell
- gdT-cell: 0.6 nTPM
- classical monocyte: 0.4 nTPM
- MAIT T-cell: 0.3 nTPM
- naive CD8 T-cell: 0.3 nTPM
- memory CD8 T-cell: 0.2 nTPM
- NK-cell: 0.2 nTPM
Brain region
- medulla oblongata: 5.5 nTPM
- choroid plexus: 5.4 nTPM
- cerebellum: 4.9 nTPM
- basal ganglia: 4.5 nTPM
- spinal cord: 4.2 nTPM
- white matter: 4.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BMP1.
Disease | AllUniProt
Conditions BMP1 is implicated in, by any mechanism.
- Osteogenesis imperfecta 13 (OI13) MIM:614856
Disease | GeneticClinVar
50 pathogenic / likely-pathogenic of 1,084 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Osteogenesis imperfecta type 13
- Osteogenesis imperfecta
- Abnormality of the skeletal system
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.46
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.99
- DepMap mean gene effect
- 0
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cartilage condensation
- cell differentiation
- collagen fibril organization
- dorsal/ventral pattern formation
- ossification
- positive regulation of cartilage development
- protein processing
- proteolysis
- skeletal system development
Molecular functions
- calcium ion binding
- cytokine activity
- growth factor activity
- identical protein binding
- metalloendopeptidase activity
- metallopeptidase activity
- peptidase activity
- serine-type endopeptidase activity
- zinc ion binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
- EGF-type aspartate/asparagine hydroxylation site
- EGF-like domain
- CUB domain
- Peptidase M12A
- EGF-like calcium-binding domain
- Peptidase, metallopeptidase
- Growth factor receptor cysteine-rich domain superfamily
- Bone morphogenetic protein 1/tolloid-like protein
- EGF-like calcium-binding, conserved site
- Metallopeptidase, catalytic domain superfamily
- Tolloid/BMP1 peptidase domain
- Spermadhesin, CUB domain superfamily
- NOTCH1, EGF-like calcium-binding domain
- CUB domain
- Astacin (Peptidase family M12A)
- Calcium-binding EGF domain
- Coagulation Factor Xa inhibitory site
KeywordsUniProt
- Calcium
- Chondrogenesis
- Cleavage on pair of basic residues
- Cytokine
- Developmental protein
- Differentiation
- Disulfide bond
- EGF-like domain
- Extracellular matrix
- Glycoprotein
- Golgi apparatus
- Growth factor
- Hydrolase
- Metal-binding
- Metalloprotease
- Methylation
- Osteogenesis
- Osteogenesis imperfecta
- Protease
- Repeat
- Secreted
- Signal
- Zinc
- Zymogen
InteractionsUniProt · HPA
Protein binding partners of BMP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BMP1 as an antibody target. Whether an autoantibody or antibody against BMP1 could matter depends on whether native BMP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BMP1 is annotated as secreted, so native BMP1 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.
Annotation status
The present source text does not explicitly label BMP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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