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BMP1 Gene

protein-coding   GIFtS: 69
GCID: GC08P022022

Bone Morphogenetic Protein 1

(Previous name: procollagen C-endopeptidase)
(Previous symbol: PCOLC)
  See BMP1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Bone Morphogenetic Protein 11 2     PCP22
PCOLC1 2 3     TLD2
Procollagen C-Endopeptidase1 2     Procollagen C-Proteinase 32
Mammalian Tolloid Protein2 3     BMP-13
PCP2 3     mTld3
EC 3.4.24.193 8     Procollagen C-Proteinase3
OI132 5     EC 3.4.248

External Ids:    HGNC: 10671   Entrez Gene: 6492   Ensembl: ENSG000001684877   OMIM: 1122645   UniProtKB: P134973   

Export aliases for BMP1 gene to outside databases

Previous GC identifers: GC08P021781 GC08P022375 GC08P021843 GC08P022044 GC08P022078 GC08P020564


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 bmp1-related osteogenesis imperfecta, and myositis ossificans. GO annotations related to this gene include growth factor activity and calcium ion binding. An important paralog of this gene is TLL2.

UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497
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

Gene Wiki entry for BMP1 (Bone morphogenetic protein 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BMP1 gene promoter:
         GR   p53   GR-beta   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBMP1 promoter sequence
   Search Chromatin IP Primers for BMP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BMP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.3   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p21

BMP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BMP1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P022022:  view genomic region     (about GC identifiers)

Start:
22,022,249 bp from pter      End:
22,069,839 bp from pter
Size:
47,591 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BMP1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497 (See protein sequence)
Recommended Name: Bone morphogenetic protein 1 precursor  
Size: 986 amino acids; 111249 Da
Cofactor: Binds 1 zinc ion per subunit
Subunit: Interacts with POSTN, the interaction promotes deposition on the extracellular matrix (By similarity)
2 PDB 3D structures from and Proteopedia for BMP1:
3EDG (3D)        3EDH (3D)    
Secondary accessions: A8K6F5 B2RN46 D3DSR0 Q13292 Q13872 Q14874 Q99421 Q99422 Q99423 Q9UL38
Alternative splicing: 7 isoforms:  P13497-1   P13497-2   P13497-7   P13497-3   P13497-4   P13497-5   P13497-6   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for BMP1: NX_P13497

Explore proteomics data for BMP1 at MOPED

Post-translational modifications: 

  • Proteolytically activated in the trans-Golgi network by furin-like/paired basic proprotein convertases, cleavage
    is not required for secretion1
  • Glycosylation2 at Asn91, Asn142, Asn332, Asn363, Asn599
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BMP1 (P13497) (see all 34)
     YLEVRDG  WEKHTCV  KDNGGCQ  YEAICGG 


    See BMP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001190.1  NP_006120.1  

    ENSEMBL proteins: 
     ENSP00000305714   ENSP00000428332   ENSP00000427950   ENSP00000306121   ENSP00000428798  
     ENSP00000430015   ENSP00000430977   ENSP00000428249   ENSP00000428665   ENSP00000430406  
     ENSP00000380917   ENSP00000380915   ENSP00000346941  
    Reactome Protein details: P13497

    BMP1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for BMP1 (BMP-1/PCP)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for BMP1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for BMP1
    GenScript Custom Purified and Recombinant Proteins Services for BMP1
    Novus Biologicals BMP1 Proteins
    Novus Biologicals BMP1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BMP1

     
    Search eBioscience for Proteins for BMP1 

    BMP1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of BMP1
    R&D Systems Antibodies for BMP1 (BMP-1/PCP)
    OriGene Antibodies for BMP1
    OriGene Custom Antibody Services for BMP1
    Novus Biologicals BMP1 Antibodies
    Abcam antibodies for BMP1
    Cloud-Clone Corp. Antibodies for BMP1
    ThermoFisher Antibodies for BMP1
    LSBio Antibodies in human, mouse, rat for BMP1

    BMP1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for BMP1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for BMP1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for BMP1
    Cloud-Clone Corp. CLIAs for BMP1
    Search eBioscience for ELISAs for BMP1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BMP: Bone morphogenetic proteins

    Selected InterPro protein domains (see all 11):
     IPR015446 BMP_1/tolloid-like
     IPR024079 MetalloPept_cat_dom
     IPR000742 EG-like_dom
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry P13497

    ProtoNet protein and cluster: P13497

    3 Blocks protein domains:
    IPB000152 Aspartic acid and asparagine hydroxylation site
    IPB000859 CUB domain
    IPB001506 Astacin family signature


    UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497
    Similarity: Belongs to the peptidase M12A family
    Similarity: Contains 5 CUB domains
    Similarity: Contains 2 EGF-like domains


    Find genes that share domains with BMP1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BMP1_HUMAN, P13497
    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
    Catalytic activity: Cleavage of the C-terminal propeptide at Ala- -Asp in type I and II procollagens and at Arg-
    -Asp in type III
    Enzyme regulation: Activity is increased by the procollagen C-endopeptidase enhancer protein

         Genatlas biochemistry entry for BMP1:
    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): EC 3.4.24.191 2 EC 3.4.242

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity TAS--
    GO:0005125cytokine activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--
         
    Find genes that share ontologies with BMP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for BMP1:
     Decreased melanin production 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Bmp1):
     cardiovascular system  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     mortality/aging  skeleton 

    Find genes that share phenotypes with BMP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Bmp1tm1Blh for BMP1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BMP1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for BMP1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BMP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BMP1

    miRNA
    Products:
        
    miRTarBase miRNAs that target BMP1:
    hsa-mir-335-5p (MIRT018244), hsa-mir-29b-3p (MIRT006060)

    Block miRNA regulation of human, mouse, rat BMP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMP1 (see all 13):
    hsa-miR-4324 hsa-miR-148b* hsa-miR-615-5p hsa-miR-642a hsa-miR-29a hsa-miR-29c hsa-miR-544b hsa-miR-513b
    SwitchGear 3'UTR luciferase reporter plasmidBMP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for BMP1
    Predesigned siRNA for gene silencing in human, mouse, rat BMP1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for BMP1

    Clone
    Products:
         
    OriGene clones in human, mouse for BMP1 (see all 16)
    OriGene ORF clones in mouse, rat for BMP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BMP1 (NM_006129)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMP1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for BMP1
    Browse ESI BIO Cell Lines and PureStem Progenitors for BMP1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BMP1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BMP1_HUMAN, P13497: Golgi apparatus, trans-Golgi network. Secreted, extracellular space, extracellular matrix.
    Note=Co-localizes with POSTN in the Golgi (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    golgi apparatus3

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0031988membrane-bounded vesicle IEA--

    Find genes that share ontologies with BMP1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BMP1 About   (see all 21)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    2PEDF Induced Signaling
    MIF Regulation of Innate Immune Cells0.94
    NFAT Signaling and Lymphocyte Interactions0.57
    MIF Mediated Glucocorticoid Regulation0.94
    PGC1Alpha Pathway0.51
    PEDF Induced Signaling0.73
    STAT3 Pathway0.47
    all-trans-Retinoic Acid Signaling in Brain0.71
    Endothelin-1 Signaling Pathway0.46
    3GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    4TGF-Beta Pathway
    TGF-Beta Pathway0.60
    JNK Pathway0.51
    MAPK Family Pathway0.60
    Regulation of eIF4 and p70S6K0.43
    JAK-STAT Pathway0.57
    SOCS Pathway0.40
    5Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Crosslinking of collagen fibrils0.00
    Collagen formation0.75
    Anchoring fibril formation0.00
    Assembly of collagen fibrils and other multimeric structures0.62


    Find genes that share SuperPaths with BMP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BMP1 (see all 69)
        Telomerase Components in Cell Signaling
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    Intracellular Calcium Signaling
    JNK Pathway

    2 BioSystems Pathways for BMP1
        Adipogenesis
    Cardiac Progenitor Differentiation

    5 Reactome Pathways for BMP1
        Anchoring fibril formation
    Collagen biosynthesis and modifying enzymes
    Crosslinking of collagen fibrils
    Degradation of the extracellular matrix
    HDL-mediated lipid transport


        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMP1 (see all 8): 
              Osteogenesis in human mouse rat
              Nephrotoxicity in human mouse rat
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Common Cytokines in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BMP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BMP1 (P134972, 3 ENSP000003057144) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CHRDQ9H2X02, 3, ENSP000002046044MINT-7386098 I2D: score=4 STRING: ENSP00000204604
    ADRA1AP353483, ENSP000003699604I2D: score=3 STRING: ENSP00000369960
    COL1A1P024523, ENSP000002259644I2D: score=2 STRING: ENSP00000225964
    COL5A2P059973, ENSP000003640004I2D: score=2 STRING: ENSP00000364000
    TP53P046373, ENSP000002693054I2D: score=2 STRING: ENSP00000269305
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS7798260
    GO:0001502cartilage condensation TAS3201241
    GO:0001503ossification IEA--
    GO:0006508proteolysis IDA16824737
    GO:0007275multicellular organismal development TAS7798260

    Find genes that share ontologies with BMP1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BMP1

    2 HMDB Compounds for BMP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ZincZinc (see all 2)7440-66-6--

    Selected Novoseek inferred chemical compound relationships for BMP1 gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    procollagen 93.4 223 16716085 (5), 19323056 (5), 15817489 (5), 18542833 (4) (see all 64)
    astacin 93.3 34 8787532 (3), 1939172 (2), 8286408 (2), 11283002 (2) (see all 15)
    mannitol-1-phosphate 71.3 2 1964486 (1), 19784641 (1)
    hydroxamate 34.8 3 11016886 (2)
    mannitol 24.9 5 19266906 (1), 1964486 (1), 8981993 (1), 19784641 (1)
    zinc 19.7 14 11283002 (2), 16716085 (1), 15817489 (1), 18824173 (1)
    serine 6.91 3 1492095 (1), 12744720 (1), 2317211 (1)
    heparin 5.64 2 20207734 (1), 11358517 (1)
    amine 0 1 11386757 (1)
    alanine 0 2 11283002 (1)



    Find genes that share compounds with BMP1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BMP1 gene (6 alternative transcripts): 
    NM_001199.3  NM_006129.4  NM_006128.2  NM_006130.1  NM_006131.1  NM_006132.1  

    Unigene Cluster for BMP1:

    Bone morphogenetic protein 1
    Hs.1274  [show with all ESTs]
    Unigene Representative Sequence: AB209590
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000306385(uc011kzc.2 uc003xbg.3) ENST00000520970(uc003xbf.3 uc003xbb.3 uc003xbc.3 uc003xbd.3 uc003xbe.3 uc003xbh.3 uc003xbi.3)
    ENST00000518913 ENST00000306349 ENST00000520982 ENST00000520626 ENST00000518656
    ENST00000483364 ENST00000471755 ENST00000521385 ENST00000521521 ENST00000523849
    ENST00000523457 ENST00000523749 ENST00000517324 ENST00000522332 ENST00000397816
    ENST00000397814
    miRNA
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    Block miRNA regulation of human, mouse, rat BMP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate BMP1 (see all 13):
    hsa-miR-4324 hsa-miR-148b* hsa-miR-615-5p hsa-miR-642a hsa-miR-29a hsa-miR-29c hsa-miR-544b hsa-miR-513b
    SwitchGear 3'UTR luciferase reporter plasmidBMP1 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for BMP1
    Predesigned siRNA for gene silencing in human, mouse, rat BMP1
    Clone
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    OriGene clones in human, mouse for BMP1 (see all 16)
    OriGene ORF clones in mouse, rat for BMP1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): BMP1 (NM_006129)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for BMP1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BMP1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for BMP1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat BMP1
      QuantiTect SYBR Green Assays in human, mouse, rat BMP1
      QuantiFast Probe-based Assays in human, mouse, rat BMP1

    Additional mRNA sequence: 

    AB012098.1 AB209590.1 AF289591.1 AK126396.1 AK291620.1 BC002593.2 BC009305.2 BC032105.2 
    BC044626.1 BC101763.1 BC101765.1 BC136679.1 BC142953.1 BC143338.1 BC144365.1 BC144366.1 
    L35278.1 L35279.1 M22488.1 NR_033403.1 NR_033404.1 U50330.1 

    17 DOTS entries:

    DT.454519  DT.101983405  DT.97835122  DT.86847766  DT.100782098  DT.92443371  DT.95203479  DT.92338444 
    DT.101967804  DT.120649286  DT.86857804  DT.91854372  DT.92443351  DT.95130031  DT.100738171  DT.91908304 
    DT.95130038 

    Selected AceView cDNA sequences (see all 259):

    AW338293 AU134498 BG697032 AI066641 BG006108 AI127984 AL546724 AI653499 
    AI984939 BM768040 CA434159 NM_006128 AI990499 AI571423 AL137746 AI089614 
    BM770518 AW084986 L35278 CN483070 AW337200 BU627735 BC044626 AU140350 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BMP1 (see all 12)    About this scheme

    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:                    -     -                             -           -           -                       -           -                       -               

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


    ECgene alternative splicing isoforms for BMP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    BMP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGCGTGGAGT
    BMP1 Expression
    About this image


    BMP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Heart (Cardiovascular System)
             Aorticopulmonary Septum
    BMP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BMP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1274

    UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BMP1 (see all 8): 
              Osteogenesis in human mouse rat
              Nephrotoxicity in human mouse rat
              Growth Factors in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Common Cytokines in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for BMP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bmp11 , 5 bone morphogenetic protein 11, 5 89.39(n)1
    96.46(a)1
      14 (36.32 cM)5
    121531  NM_009755.31  NP_033885.21 
     704745575 
    lizard
    (Anolis carolinensis)
    Reptilia BMP16
    bone morphogenetic protein 1
    77(a)
    1 ↔ 1
    GL343443.1(18612-68893)
    African clawed frog
    (Xenopus laevis)
    Amphibia Bmp12 Xtld protein 80.32(n)    D83476.1 
    zebrafish
    (Danio rerio)
    Actinopterygii bmp1a1 bone morphogenetic protein 1a 74.45(n)
    80.02(a)
      572452  NM_001040037.1  NP_001035126.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tld6
    tok6
    tolkin
    38(a)
    32(a)
    many ↔ many
    many ↔ many
    3R(20575455-20579232)
    3R(20545419-20574855)
    worm
    (Caenorhabditis elegans)
    Secernentea Y95B8A.13 peptidase 38(a)
    (best of 4)
      I(942259-947678)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BMP1 gene
    TLL22  CUBN2  CDCP22  PCOLCE2  PCOLCE22  NETO22  MFRP2  NETO12  
    TLL12  
    7 SIMAP similar genes for BMP1 using alignment to 5 protein entries:     BMP1_HUMAN (see all proteins):
    TLL2    TLL1    DKFZp781F1053    CUBN    NRP2    PROC
    DKFZp686L21135

    Find genes that share paralogs with BMP1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BMP1 (see all 1431)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361414
    A breast cancer sample4--see VAR_0361412 D H mis40--------
    VAR_0672244
    Osteogenesis imperfecta 13 (OI13)4--see VAR_0672242 F L mis40--------
    rs1219178341,2
    Cpathogenic122274757(+) GAGCAC/TTGGGG 4 -- int10--------
    rs349573181,2
    Cpathogenic122275608(-) CATCTC/TGCCCC 4 -- us2k12Minor allele frequency- T:0.01NA 78
    rs1219178351,2
    Cpathogenic122275671(+) CACCCA/TGTGTG 4 -- us2k10--------
    rs1486972951,2
    C--22022642(+) AAAAA-/GGGGGG 4 -- us2k10--------
    rs562271111,2
    C--22023439(+) TGTGT-/GT/GTGTGTG
    T
    /GTGTGTGTGT
    TCTTT
    4 -- int11NA 2
    rs1113201431,2
    F--22030276(+) AGGCAC/TGCATC 4 -- int11Minor allele frequency- T:0.50CSA 2
    rs1407524501,2
    C--22032136(+) TTTTT-/CTGTC 
            
    TTTTT
    4 -- int10--------
    rs750169371,2
    C--22035248(+) AGGTAG/-GGGGG 4 -- int11Minor allele frequency- -:0.50CSA 2

    HapMap Linkage Disequilibrium report for BMP1 (22022249 - 22069839 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for BMP1 (see all 17):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv7758n71CNV Loss21882294
    nsv528590CNV Loss19592680
    nsv465613CNV Loss19166990
    nsv470204CNV Loss18288195
    nsv890654CNV Loss21882294
    dgv7761n71CNV Loss21882294
    nsv470205CNV Loss18288195
    nsv890657CNV Loss21882294
    dgv7756n71CNV Loss21882294
    nsv890660CNV Loss21882294

    Human Gene Mutation Database (HGMD): BMP1
    Locus Specific Mutation Databases (LSDB): BMP1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BMP1
    DNA2.0 Custom Variant and Variant Library Synthesis for BMP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 112264   
    OMIM disorders: 614856  
    UniProtKB/Swiss-Prot: BMP1_HUMAN, P13497
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 5 diseases for BMP1:    
    About MalaCards
    bmp1-related osteogenesis imperfecta    myositis ossificans    osteogenesis imperfecta type xiii    gastroschisis
    osteogenesis imperfecta type iii


    Find genes that share disorders with BMP1           About GenesLikeMe

    8 Novoseek inferred disease relationships for BMP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    langer-giedion syndrome 69.1 6 8404039 (2), 7634576 (1)
    collagen fibril 65.3 9 16630102 (1), 19323056 (1), 12637537 (1), 12962540 (1) (see all 6)
    osteosarcoma 36.2 4 9577409 (2), 7641470 (1), 10846544 (1)
    carcinoma squamous cell 0 1 9247707 (1)
    scar 0 2 16630102 (2)
    hypertrophy 0 1 16630102 (1)
    breast cancer 0 1 19227012 (1)
    tumors 0 3 19323056 (1), 19305382 (1)

    Genetic Association Database (GAD): BMP1
    Human Genome Epidemiology (HuGE) Navigator: BMP1 (7 documents)

    Export disorders for BMP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BMP1 gene, integrated from 10 sources (see all 187):
    (articles sorted by number of sources associating them with BMP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of amino acid residues in bone morphogenetic protein-1 important for procollagen C-proteinase activity. (PubMed id 11283002)1, 2, 9 Garrigue-Antar L.... Kadler K.E. (J. Biol. Chem. 2001)
    2. Paired basic/Furin-like proprotein convertase cleavage of Pro-BMP-1 in the trans-Golgi network. (PubMed id 12637569)1, 2, 9 Leighton M. and Kadler K.E. (J. Biol. Chem. 2003)
    3. Bone morphogenetic protein-1 and a mammalian tolloid homologue (mTld) are encoded by alternatively spliced transcripts which are differentially expressed in some tissues. (PubMed id 7798260)1, 2, 9 Takahara K.... Greenspan D.S. (J. Biol. Chem. 1994)
    4. Structural basis for the substrate specificity of bone morphogenetic protein 1/tolloid-like metalloproteases. (PubMed id 18824173)1, 2, 9 Mac Sweeney A.... Gerhartz B. (J. Mol. Biol. 2008)
    5. The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1. (PubMed id 8643539)1, 2, 9 Li S.W....Prockop D.J. (Proc. Natl. Acad. Sci. U.S.A. 1996)
    6. Bone morphogenetic protein: chromosomal localization of human genes for BMP1, BMP2A, and BMP3. (PubMed id 2004778)1, 3, 9 Tabas J.A....Kaplan F.S. (Genomics 1991)
    7. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta. (PubMed id 22052668)1, 2 Martinez-Glez V.... Ruiz-Perez V.L. (Hum. Mutat. 2012)
    8. Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish. (PubMed id 22482805)1, 2 Asharani P.V.... Carney T.J. (Am. J. Hum. Genet. 2012)
    9. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    10. Somatic frameshift mutations of bone morphogenic protein receptor 2 gene in gastric and colorectal cancers with microsatellite instability. (PubMed id 20955454)1, 4 Park S.W....Lee S.H. (APMIS 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 649 HGNC: 1067 AceView: BMP1 Ensembl:ENSG00000168487 euGenes: HUgn649
    ECgene: BMP1 H-InvDB: BMP1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BMP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BMP1 gene:
    Search GeneIP for patents involving BMP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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