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Aliases for BMP1 Gene

Aliases for BMP1 Gene

  • Bone Morphogenetic Protein 1 2 3 5
  • Procollagen C-Endopeptidase 2 2 3
  • Mammalian Tolloid Protein 3 4
  • EC 3.4.24.19 4 61
  • PCOLC 3 4
  • PCP 3 4
  • Procollagen C-Proteinase 3 3
  • Procollagen C-Proteinase 4
  • EC 3.4.24 61
  • BMP-1 4
  • OI13 3
  • PCP2 3
  • MTld 4
  • TLD 3

External Ids for BMP1 Gene

Previous HGNC Symbols for BMP1 Gene

  • PCOLC

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 Activation of cAMP-Dependent PKA and Metabolism. GO annotations related to this gene include calcium ion binding and growth factor activity. An important paralog of this gene is TLL2.

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

Enhancers for BMP1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F022190 1.2 FANTOM5 Ensembl ENCODE 17.3 +28.1 28083 4.6 MLX ZNF133 ARID4B ZNF335 GLIS2 FOS EGR2 SMARCA5 ZNF202 TGIF2 ENSG00000253200 BMP1 POLR3D C8orf58 SORBS3 ENSG00000251034 PPP3CC XPO7 DOK2 LOC105379319
GH08F022164 0.5 ENCODE 16.6 +3.0 3017 6.8 ATF1 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF143 ZNF548 BMP1 C8orf58 ENSG00000253200 LOC107986927 SORBS3 REEP4 NPM2 POLR3D LOC101929237 XPO7
GH08F022172 0.7 ENCODE 16.3 +7.5 7547 0.2 ZNF133 KLF17 ZFP69B ZFHX2 ZNF692 SCRT2 EGR2 ZNF558 BMP1 REEP4 NPM2 LOC101929237 ENSG00000177725 LOC105379319
GH08F022187 1.3 Ensembl ENCODE 15.7 +23.8 23759 2.0 TBP HDAC1 ATF1 SIN3A BRCA1 ZNF2 RAD21 ZNF335 ZNF366 FOS ENSG00000253200 BMP1 LOC105379319 ENSG00000177725
GH08F022202 0.2 ENCODE 11.5 +40.0 40014 3.8 HDGF CREB3L1 ARID4B SIN3A DMAP1 YBX1 ZNF48 YY1 ZNF121 FOS PHYHIP MIR320A POLR3D BMP1 SFTPC LGI3 NPM2 LOC105379319
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around BMP1 on UCSC Golden Path with GeneCards custom track

Promoters for BMP1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001387477 664 2001 MLX CREB3L1 ARID4B SIN3A ZNF48 GLIS2 ZNF143 KLF13 SP3 SP5

Genomic Location for BMP1 Gene

Chromosome:
8
Start:
22,164,736 bp from pter
End:
22,212,326 bp from pter
Size:
47,591 bases
Orientation:
Plus strand

Genomic View for BMP1 Gene

Genes around BMP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BMP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    P13497-BMP1_HUMAN
    Recommended name:
    Bone morphogenetic protein 1
    Protein Accession:
    P13497
    Secondary Accessions:
    • A8K6F5
    • B2RN46
    • D3DSR0
    • Q13292
    • Q13872
    • Q14874
    • Q99421
    • Q99422
    • Q99423
    • Q9UL38

    Protein attributes for BMP1 Gene

    Size:
    986 amino acids
    Molecular mass:
    111249 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    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

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 Asn 91, Asn 142, Asn 332, Asn 363, and Asn 599
  • Modification sites at PhosphoSitePlus

Domains & Families for BMP1 Gene

Gene Families for BMP1 Gene

Suggested Antigen Peptide Sequences for BMP1 Gene

Graphical View of Domain Structure for InterPro Entry

P13497

UniProtKB/Swiss-Prot:

BMP1_HUMAN :
  • Contains 5 CUB domains.
  • Belongs to the peptidase M12A family.
Domain:
  • Contains 5 CUB domains.
  • Contains 2 EGF-like domains.
Family:
  • 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 IEA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005125 cytokine activity IBA --
GO:0005160 transforming growth factor beta receptor binding IBA --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with BMP1: view
genes like me logo Genes that share phenotypes with BMP1: view

Human Phenotype Ontology for BMP1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BMP1 Gene

MGI Knock Outs for BMP1:

Animal Model Products

miRNA for BMP1 Gene

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
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 IEA,TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space IBA --
GO:0005794 Golgi apparatus IEA --
GO:0031982 vesicle IEA --
genes like me logo Genes that share ontologies with BMP1: view

Pathways & Interactions for BMP1 Gene

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

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 IEA,IDA 16824737
GO:0007275 multicellular organism development IEA,TAS 7798260
genes like me logo Genes that share ontologies with BMP1: view

No data available for SIGNOR curated interactions for BMP1 Gene

Drugs & Compounds for BMP1 Gene

(9) Drugs for BMP1 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma 2231
UK 383367 Pharma BMP-1/PCP inhibitor,potent and selective 0
calcium Nutra 0

(7) Additional Compounds for BMP1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for BMP1 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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: - - - - - - -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

ExUns: 19a · 19b · 19c ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26
SP1: - - - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for BMP1 Gene

GeneLoc Exon Structure for
BMP1
ECgene alternative splicing isoforms for
BMP1

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 from HIPED for BMP1 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BMP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of BMP1 Gene:

BMP1

SOURCE GeneReport for Unigene cluster for BMP1 Gene:

Hs.1274

mRNA Expression by UniProt/SwissProt for BMP1 Gene:

P13497-BMP1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with BMP1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-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
chimpanzee
(Pan troglodytes)
Mammalia BMP1 34 35
  • 99.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BMP1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BMP1 34 35
  • 91.31 (n)
dog
(Canis familiaris)
Mammalia BMP1 34 35
  • 91.07 (n)
oppossum
(Monodelphis domestica)
Mammalia BMP1 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bmp1 34 16 35
  • 89.39 (n)
rat
(Rattus norvegicus)
Mammalia Bmp1 34
  • 88.94 (n)
lizard
(Anolis carolinensis)
Reptilia BMP1 35
  • 77 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Bmp1 34
zebrafish
(Danio rerio)
Actinopterygii bmp1a 34 35
  • 74.45 (n)
bmp1b 35
  • 73 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta tld 35
  • 38 (a)
ManyToMany
tok 35
  • 32 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea nas-39 35
  • 42 (a)
OneToMany
Y95B8A.1 36
  • 38 (a)
F09E8.6 36
  • 37 (a)
T04G9.2 36
  • 37 (a)
toh-2 36
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
Species where no ortholog for BMP1 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for BMP1 (if available)
TreeFam:
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
rs318240762 Osteogenesis imperfecta 13 (OI13) [MIM:614856], Pathogenic 22,165,439(+) TGCTC(C/G)GGCTG nc-transcript-variant, reference, missense
rs398122891 Osteogenesis imperfecta 13 (OI13) [MIM:614856], Pathogenic 22,177,868(+) AACTT(C/G)CTGAA nc-transcript-variant, reference, missense
rs786205219 Osteogenesis imperfecta 13 (OI13) [MIM:614856], Pathogenic 22,177,929(+) GCATC(A/G)TGCAT nc-transcript-variant, reference, missense
VAR_036141 A breast cancer sample
rs121917835 Pathogenic 22,164,010(+) CACCC(A/T)GTGTG upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv12054n54 CNV loss 21841781
esv2759604 CNV loss 17122850
nsv465613 CNV loss 19166990
nsv470204 CNV loss 18288195
nsv470205 CNV loss 18288195
nsv528590 CNV loss 19592680
nsv610771 CNV loss 21841781
nsv831263 CNV loss 17160897
nsv831264 CNV gain+loss 17160897
nsv831265 CNV loss 17160897

Variation tolerance for BMP1 Gene

Residual Variation Intolerance Score: 1.45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.31; 70.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BMP1 Gene

Human Gene Mutation Database (HGMD)
BMP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BMP1

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

Disorders for BMP1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for BMP1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
osteogenesis imperfecta, type xiii
  • osteogenesis imperfecta type 13
bmp1-related osteogenesis imperfecta
osteogenesis imperfecta, type iii
  • osteogenesis imperfecta type 3
osteogenesis imperfecta
  • brittle bone disease
trichorhinophalangeal syndrome, type ii
  • lennox-gastaut syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BMP1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BMP1_HUMAN
  • 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.

Relevant External Links for BMP1

Genetic Association Database (GAD)
BMP1
Human Genome Epidemiology (HuGE) Navigator
BMP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BMP1
genes like me logo Genes that share disorders with BMP1: view

No data available for Genatlas for BMP1 Gene

Publications for BMP1 Gene

  1. 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 22 64
  2. 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 22 64
  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 22 64
  4. 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 22 64
  5. 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 22 64

Products for BMP1 Gene

Sources for BMP1 Gene

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