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

    Gene ID: 649, updated on 9-Aug-2021

    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
    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
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    Genomic context

    See BMP1 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (22165372..22212326)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22022885..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 Sharpr-MPRA regulatory region 2962 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Osteogenesis imperfecta, type xiii
    MedGen: C3553887 OMIM: 614856 GeneReviews: Not available
    Compare labs

    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 PubChem

    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
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables metallopeptidase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cartilage condensation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen fibril organization TAS
    Traceable Author Statement
    more info
     
    involved_in multicellular organism development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within positive regulation of cartilage development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
     
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5233..52187
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199.4NP_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)
      BC136679, BE619065, M22488
      Consensus CDS
      CCDS34856.1
      UniProtKB/Swiss-Prot
      P13497
      Related
      ENSP00000306121.8, ENST00000306349.13
      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_006129.5NP_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)
      BC136679, BU627735
      Consensus CDS
      CCDS6026.1
      UniProtKB/Swiss-Prot
      P13497
      Related
      ENSP00000305714.5, ENST00000306385.10
      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_033403.2 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)
      BC144366, BU627735
      Related
      ENST00000520982.5
    2. NR_033404.2 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)
      BC009305, BE619065, M22488
      Related
      ENST00000518913.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      22165372..22212326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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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