BMP1 Gene (Protein Coding)

Bone Morphogenetic Protein 1

GC08P022164
GIFtS:
47
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-t... See more...

Aliases for BMP1 Gene

Aliases for BMP1 Gene

  • Bone Morphogenetic Protein 1 2 3 4 5
  • Procollagen C-Endopeptidase 2 3
  • Mammalian Tolloid Protein 3 4
  • Tolloid-Like 2 3
  • EC 3.4.24.19 4 50
  • PCOLC 3 4
  • BMP-1 2 4
  • PCP 3 4
  • Procollagen C-Proteinase 3 3
  • Procollagen C-Proteinase 4
  • EC 3.4.24 50
  • OI13 3
  • PCP2 3
  • BMP1 5
  • 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 High Bone Mass Osteogenesis Imperfecta. Among its related pathways are Lipoprotein metabolism and Nanog in Mammalian ESC Pluripotency. Gene Ontology (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 Summary 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

Additional gene information for BMP1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BMP1 Gene

Genomics for BMP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for BMP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BMP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BMP1

Top Transcription factor binding sites by QIAGEN in the BMP1 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • p53

Genomic Locations for BMP1 Gene

Latest Assembly
chr8:22,165,140-22,212,326
(GRCh38/hg38)
Size:
47,187 bases
Orientation:
Plus strand

Previous Assembly
chr8:22,022,885-22,069,839
(GRCh37/hg19 by Entrez Gene)
Size:
46,955 bases
Orientation:
Plus strand

chr8:22,022,249-22,069,839
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for BMP1 Gene

Proteins for BMP1 Gene

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  • 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.
    Miscellaneous:
    • [Isoform BMP1-4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform BMP1-5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform BMP1-6]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for BMP1 Gene

    Alternative splice isoforms for BMP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BMP1 Gene

Protein Expression for BMP1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for BMP1 Gene

P13497:
  • IGQRTRLS
  • CGCCSYVGRRG
  • QYRISLQF
  • WEKHTCV
  • YLEVRDG
  • KDNGGCQ
  • DSRLWVEFRSSS
  • YEAICGG
  • CGSGPPEE
  • FEIERHD
  • IVFTYRPCGCCSYVGRRG
  • SDGSINKAGF
  • KLHGKFCG
  • VSEGFHVG
  • EFRSSSN
  • GFWHEHTRPDR
  • CAYDYLE
  • SPNWPDKYPS
  • GKNCDKFG
  • SHAQFGDNNYP
  • PGWPKEYP
  • SIMHYARNTFSRG
  • SVTPGEKI
  • FQSFEIERH
  • GGCEQRC
  • CVNTFGSY
  • IQSPNYPDDYRP
  • RENIQPGQEYNFLKME
  • EFKSDNTVSK
  • SLGETYDF
  • SVQRKGFQA
  • CPACGETLQ
  • ECAYDHLEVFDG
  • CEAACGG

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
  • Glycosylation from GlyConnect

Other Protein References for BMP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for BMP1 Gene

Gene Families for BMP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for BMP1 Gene

InterPro:
Blocks:
  • CUB domain
  • Aspartic acid and asparagine hydroxylation site
  • Astacin family signature

Suggested Antigen Peptide Sequences for BMP1 Gene

GenScript: Design optimal peptide antigens:
  • Bone morphogenetic protein 1 (A5PLK9_HUMAN)
  • Procollagen C-proteinase (BMP1_HUMAN)
genes like me logo Genes that share domains with BMP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for BMP1 Gene

Function for BMP1 Gene

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  6. Cell Lines for research

Molecular function for BMP1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Cleavage of the C-terminal propeptide at Ala-|-Asp in type I and II procollagens and at Arg-|-Asp in type III.; EC=3.4.24.19;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activity is increased by the procollagen C-endopeptidase enhancer protein.
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

Enzyme Numbers (IUBMB) for BMP1 Gene

Phenotypes From GWAS Catalog for BMP1 Gene

Gene Ontology (GO) - Molecular Function for BMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005125 cytokine activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 19429706
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

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 Models for research

miRNA for BMP1 Gene

miRTarBase miRNAs that target BMP1

Inhibitory RNAs for research

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Clone products for research

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BMP1 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for BMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005794 Golgi apparatus IEA --
GO:0031982 vesicle IEA --
genes like me logo Genes that share ontologies with BMP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BMP1 Gene

Pathways & Interactions for BMP1 Gene

PathCards logo

SuperPathways for BMP1 Gene

SuperPathway Contained pathways
1 Apoptotic Pathways in Synovial Fibroblasts
Cellular Apoptosis Pathway
.85
Mitochondrial Apoptosis
.85
Apoptotic Pathways in Synovial Fibroblasts
.84
p53 Mediated Apoptosis
.84
DHA Signaling
.74
Telomerase Components in Cell Signaling
.72
PPAR Pathway
.66
Rac1 Pathway
.65
Glioma Invasiveness
.64
Actin-Based Motility by Rho Family GTPases
.62
ERK5 Signaling
.61
eIF2 Pathway
.60
Rap1 Pathway
.57
Nuclear Receptor Activation by Vitamin-A
.57
2 PEDF Induced Signaling
MIF Mediated Glucocorticoid Regulation
.94
MIF Regulation of Innate Immune Cells
.94
PEDF Induced Signaling
.73
all-trans-Retinoic Acid Signaling in Brain
.71
RAR-Gamma-RXR-Alpha Degradation
.62
IL-6 Pathway
.61
NFAT Signaling and Lymphocyte Interactions
.57
PGC1Alpha Pathway
.51
STAT3 Pathway
.47
Endothelin-1 Signaling Pathway
.46
Glucocorticoid Receptor Signaling
.43
3 GPCR Pathway
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
4 TGF-Beta Pathway
MAPK Family Pathway
.60
TGF-Beta Pathway
.60
JAK-STAT Pathway
.57
JNK Pathway
.51
Regulation of eIF4 and p70S6K
.43
SOCS Pathway
.40
5 ERK Signaling
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
genes like me logo Genes that share pathways with BMP1: view

Pathways by source for BMP1 Gene

69 Qiagen pathways for BMP1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin-Based Motility by Rho Family GTPases
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR

SIGNOR curated interactions for BMP1 Gene

Activates:

Gene Ontology (GO) - Biological Process for BMP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS,NAS 7798260
GO:0001502 cartilage condensation TAS 3201241
GO:0001503 ossification IEA --
GO:0006508 proteolysis IEA,IDA --
GO:0007165 signal transduction IEA --
genes like me logo Genes that share ontologies with BMP1: view

Drugs & Compounds for BMP1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma 1706
UK 383367 Pharma BMP-1/PCP inhibitor,potent and selective 0
Calcium Nutra 6959

(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

Drug products for research

Transcripts for BMP1 Gene

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mRNA/cDNA for BMP1 Gene

6 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BMP1

Clone products for research

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

Expression for BMP1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BMP1 Gene

mRNA expression in normal human tissues for BMP1 Gene
mRNA expression by BioGPS for BMP1 GenemRNA expression by GTEx 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, MaxQB, and MOPED for BMP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for BMP1 Gene

  • Nervous system(4.7)
  • Skin(4.5)
  • Muscle(2.6)
  • Heart(2.6)
  • Liver(2.4)
  • Intestine(2.2)
  • Lung(2.2)
  • Bone(2.1)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BMP1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with BMP1: view

Primer products for research

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 29 30
  • 99.43 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia BMP1 30
  • 93 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia BMP1 29 30
  • 91.31 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia BMP1 29 30
  • 91.07 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia BMP1 30
  • 90 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Bmp1 29 16 30
  • 89.39 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Bmp1 29
  • 88.94 (n)
Lizard
(Anolis carolinensis)
 Reptilia BMP1 30
  • 77 (a)
 OneToOne
African clawed frog
(Xenopus laevis)
 Amphibia Bmp1 29
Zebrafish
(Danio rerio)
 Actinopterygii bmp1a 29 30
  • 74.45 (n)
 OneToMany
bmp1b 30
  • 73 (a)
 OneToMany
Fruit Fly
(Drosophila melanogaster)
 Insecta tld 30
  • 38 (a)
 ManyToMany
tok 30
  • 32 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea nas-39 30
  • 42 (a)
 OneToMany
Y95B8A.1 31
  • 38 (a)
F09E8.6 31
  • 37 (a)
T04G9.2 31
  • 37 (a)
toh-2 31
  • 29 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 51 (a)
 OneToMany
Species where no ortholog for BMP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BMP1: view image
Alliance of Genome Resources:
Additional Orthologs for BMP1

Paralogs for BMP1 Gene

Paralogs for BMP1 Gene

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

  • BMP1_HUMAN
  • A5PLK9_HUMAN
  • B7ZKR5_HUMAN
  • E5RH22_HUMAN
  • Q3MIM8_HUMAN
genes like me logo Genes that share paralogs with BMP1: view

Variants for BMP1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BMP1 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1031022 Uncertain Significance: Osteogenesis imperfecta, type xiii 22,207,484(+) A/G
NM_006129.5(BMP1):c.2543A>G (p.Gln848Arg) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1033072 Uncertain Significance: Osteogenesis imperfecta, type xiii 22,192,052(+) A/T
NM_006129.5(BMP1):c.1081A>T (p.Ile361Phe) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1033073 Uncertain Significance: Osteogenesis imperfecta, type xiii 22,180,350(+) C/G
NM_006129.5(BMP1):c.962-18C>G 		INTRON
908566 Likely Benign: Osteogenesis imperfecta, type xiii 22,179,809(+) G/A
NM_006129.5(BMP1):c.941G>A (p.Arg314His) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
908567 Uncertain Significance: Osteogenesis imperfecta, type xiii 22,180,450(+) C/T
NM_006129.5(BMP1):c.1044C>T (p.Cys348=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for BMP1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for BMP1 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for BMP1 Gene

MalaCards: The human disease database

(24) MalaCards diseases for BMP1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants affecting the gene represented in this entry.

Additional Disease Information for BMP1

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Publications for BMP1 Gene

  1. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. (PMID: 22052668) Martínez-Glez V ā€¦ Ruiz-Perez VL (Human mutation 2012) 3 4 72
  2. Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PMID: 18824173) Mac Sweeney A ā€¦ Gerhartz B (Journal of molecular biology 2008) 3 4 22
  3. Paired basic/Furin-like proprotein convertase cleavage of Pro-BMP-1 in the trans-Golgi network. (PMID: 12637569) Leighton M ā€¦ Kadler KE (The Journal of biological chemistry 2003) 3 4 22
  4. Identification of amino acid residues in bone morphogenetic protein-1 important for procollagen C-proteinase activity. (PMID: 11283002) Garrigue-Antar L ā€¦ Kadler KE (The Journal of biological chemistry 2001) 3 4 22
  5. The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1. (PMID: 8643539) Li SW ā€¦ Prockop DJ (Proceedings of the National Academy of Sciences of the United States of America 1996) 3 4 22

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