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Aliases for BMP1 Gene

Aliases for BMP1 Gene

  • Bone Morphogenetic Protein 1 2 3
  • Procollagen C-Endopeptidase 2 2 3
  • Mammalian Tolloid Protein 3 4
  • EC 4 63
  • PCOLC 3 4
  • OI13 3 6
  • PCP 3 4
  • Procollagen C-Proteinase 3 3
  • Procollagen C-Proteinase 4
  • EC 3.4.24 63
  • BMP-1 4
  • PCP2 3
  • MTld 4
  • TLD 3

External Ids for BMP1 Gene

Previous HGNC Symbols for BMP1 Gene


Previous GeneCards Identifiers for BMP1 Gene

  • GC08P021781
  • GC08P022375
  • GC08P021843
  • GC08P022044
  • GC08P022078
  • GC08P022022
  • GC08P020564

Summaries for BMP1 Gene

Entrez Gene Summary for BMP1 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]

GeneCards Summary for BMP1 Gene

BMP1 (Bone Morphogenetic Protein 1) is a Protein Coding gene. Diseases associated with BMP1 include osteogenesis imperfecta, type xiii and bmp1-related osteogenesis imperfecta. Among its related pathways are TGF-Beta Pathway and TGF-Beta Pathway. GO annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is TLL1.

UniProtKB/Swiss-Prot for BMP1 Gene

  • Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX

Gene Wiki entry for BMP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BMP1 Gene

Genomics for BMP1 Gene

Regulatory Elements for BMP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for BMP1 Gene

22,164,736 bp from pter
22,212,326 bp from pter
47,591 bases
Plus strand

Genomic View for BMP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BMP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BMP1 Gene

Proteins for BMP1 Gene

  • Protein details for BMP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Bone morphogenetic protein 1
    Protein Accession:
    Secondary Accessions:
    • A8K6F5
    • B2RN46
    • D3DSR0
    • Q13292
    • Q13872
    • Q14874
    • Q99421
    • Q99422
    • Q99423
    • Q9UL38

    Protein attributes for BMP1 Gene

    986 amino acids
    Molecular mass:
    111249 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    • Interacts with POSTN, the interaction promotes deposition on the extracellular matrix.

    Three dimensional structures from OCA and Proteopedia for BMP1 Gene

    Alternative splice isoforms for BMP1 Gene

neXtProt entry for BMP1 Gene

Proteomics data for BMP1 Gene at MOPED

Post-translational modifications for BMP1 Gene

  • Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage is not required for secretion.
  • Glycosylation at Asn91, Asn142, Asn332, Asn363, and Asn599
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains for BMP1 Gene

Gene Families for BMP1 Gene

Suggested Antigen Peptide Sequences for BMP1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 5 CUB domains.
  • Belongs to the peptidase M12A family.
  • Contains 5 CUB domains.
  • Contains 2 EGF-like domains.
  • Belongs to the peptidase M12A family.
genes like me logo Genes that share domains with BMP1: view

Function for BMP1 Gene

Molecular function for BMP1 Gene

GENATLAS Biochemistry:
bone morphogenetic protein 1,astacin family of metalloproteinases,expressed in bone tissues,acting as a procollagen C-proteinase that process the fibrillar collagen types I-III and prolysyl-oxidase;also encoding an alternatively spliced transcript for a protein with a domain identical to Drosophila dorsal-ventral pattern gene tolloid (TLD),activating TGFB-like molecules,and five other tissue specific,alternatively spliced isoforms
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of the C-terminal propeptide at Ala- -Asp in type I and II procollagens and at Arg- -Asp in type III
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is increased by the procollagen C-endopeptidase enhancer protein
UniProtKB/Swiss-Prot Function:
Cleaves the C-terminal propeptides of procollagen I, II and III. Induces cartilage and bone formation. May participate in dorsoventral patterning during early development by cleaving chordin (CHRD). Responsible for the proteolytic activation of lysyl oxidase LOX

Enzyme Numbers (IUBMB) for BMP1 Gene

Gene Ontology (GO) - Molecular Function for BMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity TAS --
GO:0005125 cytokine activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding --
GO:0008083 growth factor activity IEA --
genes like me logo Genes that share ontologies with BMP1: view
genes like me logo Genes that share phenotypes with BMP1: view

Animal Models for BMP1 Gene

MGI Knock Outs for BMP1:

Animal Model Products

miRNA for BMP1 Gene

miRTarBase miRNAs that target BMP1

No data available for Transcription Factor Targets and HOMER Transcription for BMP1 Gene

Localization for BMP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BMP1 Gene

Golgi apparatus, trans-Golgi network. Secreted, extracellular space, extracellular matrix. Note=Co-localizes with POSTN in the Golgi. {ECO:0000250}.

Subcellular locations from

Jensen Localization Image for BMP1 Gene COMPARTMENTS Subcellular localization image for BMP1 gene
Compartment Confidence
extracellular 5
plasma membrane 5
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for BMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IEA --
GO:0005794 Golgi apparatus IEA --
GO:0031988 membrane-bounded vesicle IEA --
genes like me logo Genes that share ontologies with BMP1: view

Pathways for BMP1 Gene

genes like me logo Genes that share pathways with BMP1: view

PCR Array Products

Gene Ontology (GO) - Biological Process for BMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 7798260
GO:0001502 cartilage condensation TAS 3201241
GO:0001503 ossification IEA --
GO:0006508 proteolysis IDA 16824737
GO:0007275 multicellular organismal development TAS 7798260
genes like me logo Genes that share ontologies with BMP1: view

Drugs for BMP1 Gene

(1) Drugbank Compounds for BMP1 Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • (2R,3R,4R,5R)-Hexane-1,2,3,4,5,6-hexaol
69-65-8 Enzyme substrate approved, investigational

(1) ApexBio Compounds for BMP1 Gene

Compound Action Cas Number
UK 383367 BMP-1/PCP inhibitor,potent and selective [348622-88-8]

(2) HMDB Compounds for BMP1 Gene

Compound Synonyms Cas Number PubMed IDs
  • Ca
Zinc (II) ion
  • Zinc

(14) Novoseek inferred chemical compound relationships for BMP1 Gene

Compound -log(P) Hits PubMed IDs
procollagen 93.4 114
astacin 93.3 21
mannitol-1-phosphate 71.3 2
hydroxamate 34.8 2
mannitol 24.9 4
genes like me logo Genes that share compounds with BMP1: view

Transcripts for BMP1 Gene

Unigene Clusters for BMP1 Gene

Bone morphogenetic protein 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BMP1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - -
SP6: - - - - - - -
SP8: -

ExUns: 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: -

Relevant External Links for BMP1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for BMP1 Gene

mRNA expression in normal human tissues for BMP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for BMP1 Gene

This gene is overexpressed in Amniocyte (42.4), Serum (10.1), and Plasma (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BMP1 Gene

SOURCE GeneReport for Unigene cluster for BMP1 Gene Hs.1274

mRNA Expression by UniProt/SwissProt for BMP1 Gene

Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with BMP1: view

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and Expression partners for BMP1 Gene

Orthologs for BMP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for BMP1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia BMP1 35
  • 91.31 (n)
  • 95.87 (a)
BMP1 36
  • 93 (a)
(Canis familiaris)
Mammalia BMP1 35
  • 91.07 (n)
  • 96.48 (a)
BMP1 36
  • 96 (a)
(Mus musculus)
Mammalia Bmp1 35
  • 89.39 (n)
  • 96.46 (a)
Bmp1 16
Bmp1 36
  • 96 (a)
(Pan troglodytes)
Mammalia BMP1 35
  • 99.43 (n)
  • 99.7 (a)
BMP1 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Bmp1 35
  • 88.94 (n)
  • 96.57 (a)
(Monodelphis domestica)
Mammalia BMP1 36
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia BMP1 36
  • 93 (a)
(Anolis carolinensis)
Reptilia BMP1 36
  • 77 (a)
African clawed frog
(Xenopus laevis)
Amphibia Bmp1 35
(Danio rerio)
Actinopterygii bmp1a 35
  • 74.45 (n)
  • 80.02 (a)
bmp1a 36
  • 76 (a)
bmp1b 36
  • 73 (a)
fruit fly
(Drosophila melanogaster)
Insecta tld 36
  • 38 (a)
tok 36
  • 32 (a)
(Caenorhabditis elegans)
Secernentea F09E8.6 37
  • 37 (a)
T04G9.2 37
  • 37 (a)
toh-2 37
  • 29 (a)
Y95B8A.1 37
  • 38 (a)
nas-39 36
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
Species with no ortholog for BMP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for BMP1 Gene

Gene Tree for BMP1 (if available)
Gene Tree for BMP1 (if available)

Paralogs for BMP1 Gene

Paralogs for BMP1 Gene

(7) SIMAP similar genes for BMP1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with BMP1: view

Variants for BMP1 Gene

Sequence variations from dbSNP and Humsavar for BMP1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs7001 -- 22,211,873(+) GTCCA(C/T)AGGAG utr-variant-3-prime, nc-transcript-variant
rs1126674 -- 22,212,015(+) GGCAA(A/G)AGGGA utr-variant-3-prime, nc-transcript-variant
rs1126694 -- 22,212,293(+) AGGGC(A/C)CCGCA utr-variant-3-prime, nc-transcript-variant
rs1126705 -- 22,196,381(+) CTGAG(C/T)CCCTT intron-variant
rs1801370 -- 22,201,310(+) CATTC(C/G)GGCCC utr-variant-3-prime, intron-variant, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for BMP1 Gene

Variant ID Type Subtype PubMed ID
essv19243 CNV CNV 17122850
essv21913 CNV CNV 17122850
dgv7756n71 CNV Loss 21882294
nsv831263 CNV Loss 17160897
nsv528590 CNV Loss 19592680
nsv890654 CNV Loss 21882294
nsv465613 CNV Loss 19166990
dgv7758n71 CNV Loss 21882294
nsv890657 CNV Loss 21882294
nsv831264 CNV Gain+Loss 17160897
nsv470204 CNV Loss 18288195
nsv890660 CNV Loss 21882294
dgv7759n71 CNV Loss 21882294
dgv7761n71 CNV Loss 21882294
nsv890670 CNV Loss 21882294
nsv470205 CNV Loss 18288195
nsv831265 CNV Loss 17160897

Relevant External Links for BMP1 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BMP1 Gene

Disorders for BMP1 Gene

(1) OMIM Diseases for BMP1 Gene (112264)


  • Osteogenesis imperfecta 13 (OI13) [MIM:614856]: 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. {ECO:0000269 PubMed:22052668, ECO:0000269 PubMed:22482805, ECO:0000269 PubMed:25402547}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for BMP1 Gene

Disease -log(P) Hits PubMed IDs
langer-giedion syndrome 69.1 3
collagen fibril 65.3 6
osteosarcoma 36.2 4
carcinoma squamous cell 0 1
scar 0 2

Relevant External Links for BMP1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with BMP1: view

No data available for University of Copenhagen DISEASES and Genatlas for BMP1 Gene

Publications for BMP1 Gene

  1. Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues. (PMID: 7798260) Takahara K. … Greenspan D.S. (J. Biol. Chem. 1994) 3 4 23
  2. The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1. (PMID: 8643539) Li S.W. … Prockop D.J. (Proc. Natl. Acad. Sci. U.S.A. 1996) 3 4 23
  3. Identification of amino acid residues in bone morphogenetic protein-1 important for procollagen C-proteinase activity. (PMID: 11283002) Garrigue-Antar L. … Kadler K.E. (J. Biol. Chem. 2001) 3 4 23
  4. Paired basic/Furin-like proprotein convertase cleavage of Pro-BMP-1 in the trans-Golgi network. (PMID: 12637569) Leighton M. … Kadler K.E. (J. Biol. Chem. 2003) 3 4 23
  5. Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PMID: 18824173) Mac Sweeney A. … Gerhartz B. (J. Mol. Biol. 2008) 3 4 23

Products for BMP1 Gene

Sources for BMP1 Gene

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