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    BMP1 bone morphogenetic protein 1 [ Homo sapiens (human) ]

    Gene ID: 649, updated on 8-Oct-2018

    Summary

    Official Symbol
    BMP1provided by HGNC
    Official Full Name
    bone morphogenetic protein 1provided by HGNC
    Primary source
    HGNC:HGNC:1067
    See related
    Ensembl:ENSG00000168487 MIM:112264; Vega:OTTHUMG00000097761
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PCP; TLD; OI13; PCP2; PCOLC
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 24.6), endometrium (RPKM 12.4) and 22 other tissues See more
    Orthologs

    Genomic context

    See BMP1 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (22165140..22212326)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22022653..22069839)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene surfactant protein C Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein Neighboring gene microRNA 320a

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Osteogenesis imperfecta, type xiii
    MedGen: C3553887 OMIM: 614856 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of bone morphogenetic protein 1 (BMP1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat BMP-1 is upregulated in human epithelial cells by HIV-1 Tat treatment PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Adipogenesis, organism-specific biosystem (from WikiPathways)
      Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
    • Anchoring fibril formation, organism-specific biosystem (from REACTOME)
      Anchoring fibril formation, organism-specific biosystemCollagen VII forms anchoring fibrils, composed of antiparallel dimers that connect the dermis to the epidermis (Bruckner-Tuderman 2009, Has & Kern 2010). During fibrillogenesis, the nascent type VII ...
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • Canonical and Non-Canonical TGF-B signaling, organism-specific biosystem (from WikiPathways)
      Canonical and Non-Canonical TGF-B signaling, organism-specific biosystemThis pathway is modeled after Figure 9 in the article "Gremlin utilizes canonical and non-canonical TGFB signaling to induce lysyl oxidase (LOX) genes in human trabecular meshwork cells". Gremlin is ...
    • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
      Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • Crosslinking of collagen fibrils, organism-specific biosystem (from REACTOME)
      Crosslinking of collagen fibrils, organism-specific biosystemAfter removal of the N- and C-procollagen propeptides, fibrillar collagen molecules aggregate into microfibrillar arrays, stabilized by covalent intermolecular cross-links. These depend on the oxidat...
    • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
      Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
    • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ44432

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    metallopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cartilage condensation TAS
    Traceable Author Statement
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    high-density lipoprotein particle assembly TAS
    Traceable Author Statement
    more info
     
    multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cartilage development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein 1
    Names
    mammalian tolloid protein
    procollagen C-endopeptidase
    procollagen C-proteinase 3
    tolloid-like
    NP_001190.1
    NP_006120.1
    XP_006716449.2
    XP_011542919.1
    XP_016869227.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029659.1 RefSeqGene

      Range
      5001..52187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199.3NP_001190.1  bone morphogenetic protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001190.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as BMP1-1) represents the shortest transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AC105206, BC136679, BE619065, DA720194, M22488
      Consensus CDS
      CCDS34856.1
      UniProtKB/Swiss-Prot
      P13497
      Related
      ENSP00000306121.8, OTTHUMP00000227399, ENST00000306349.12, OTTHUMT00000375386
      Conserved Domains (4) summary
      cd04281
      Location:121320
      ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
      pfam00431
      Location:435544
      CUB; CUB domain
      pfam01400
      Location:128321
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:555587
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. NM_006129.4NP_006120.1  bone morphogenetic protein 1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_006120.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3, also known as BMP1-3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AC105206, BC136679, BU627735, DA720194
      Consensus CDS
      CCDS6026.1
      UniProtKB/Swiss-Prot
      P13497
      Related
      ENSP00000305714.5, OTTHUMP00000123391, ENST00000306385.9, OTTHUMT00000214995
      Conserved Domains (4) summary
      cd04281
      Location:121320
      ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
      pfam00431
      Location:435544
      CUB; CUB domain
      pfam01400
      Location:128321
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:707742
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RNA

    1. NR_033403.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC105206, BC144366, BU627735, DA720194
      Related
      ENST00000520982.5, OTTHUMT00000375375
    2. NR_033404.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) uses an alternate splice site in an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC105206, BC009305, BE619065, DA720194, M22488
      Related
      ENST00000518913.5, OTTHUMT00000375382

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      22165140..22212326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017013738.2XP_016869227.1  bone morphogenetic protein 1 isoform X2

      UniProtKB/Swiss-Prot
      P13497
      Related
      ENSP00000430406.1, OTTHUMP00000224832, ENST00000521385.5
      Conserved Domains (4) summary
      cd04281
      Location:121320
      ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
      pfam00431
      Location:435544
      CUB; CUB domain
      pfam01400
      Location:128321
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:555587
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    2. XM_006716386.3XP_006716449.2  bone morphogenetic protein 1 isoform X1

      Conserved Domains (4) summary
      cd04281
      Location:121320
      ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
      pfam00431
      Location:435544
      CUB; CUB domain
      pfam01400
      Location:128321
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:555587
      FXa_inhibition; Coagulation Factor Xa inhibitory site
    3. XM_011544617.2XP_011542919.1  bone morphogenetic protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011542919.1

      UniProtKB/Swiss-Prot
      P13497
      Related
      ENSP00000428665.1, OTTHUMP00000224834, ENST00000471755.5
      Conserved Domains (4) summary
      cd04281
      Location:121320
      ZnMc_BMP1_TLD; Zinc-dependent metalloprotease; BMP1/TLD-like subfamily. BMP1 (Bone morphogenetic protein 1) and TLD (tolloid)-like metalloproteases play vital roles in extracellular matrix formation, by cleaving precursor proteins such as enzymes, structural proteins, ...
      pfam00431
      Location:435544
      CUB; CUB domain
      pfam01400
      Location:128321
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:555587
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    RNA

    1. XR_949458.2 RNA Sequence

    2. XR_001745579.2 RNA Sequence

      Related
      ENST00000520626.6

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_006128.2: Suppressed sequence

      Description
      NM_006128.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_006130.1: Suppressed sequence

      Description
      NM_006130.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay candidate.
    3. NM_006131.1: Suppressed sequence

      Description
      NM_006131.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay candidate.
    4. NM_006132.1: Suppressed sequence

      Description
      NM_006132.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay candidate.
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