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    BMP1 bone morphogenetic protein 1 [ Homo sapiens ]

    Gene ID: 649, updated on 20-May-2012

    Summary

    Official Symbol
    BMP1provided by HGNC
    Official Full Name
    bone morphogenetic protein 1provided by HGNC
    Primary source
    HGNC:1067
    See related
    Ensembl:ENSG00000168487; HPRD:00209; 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; PCP2; PCOLC; FLJ44432
    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]

    Genomic context

    Location :
    8p21.3
    Sequence :
    Chromosome: 8; NC_000008.10 (22022653..22069839)
    See BMP1 in Epigenomics, MapViewer

    Chromosome 8 - NC_000008.10Genomic 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

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    HIV-1 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 Protein Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NP_006120.1 NP_000671.1 ADRA1A    BIND  PubMed The carboxy-terminus of alpha-1A-AR interacts with BMP-1. 
    P13497 P35348 ADRA1A    HPRD  PubMed  
    P13497 Q9H2X0 CHRD    HPRD  PubMed  
    P13497 P02452 COL1A1    HPRD  PubMed  
    P13497 P20908 COL5A1    HPRD  PubMed  
    P13497 P05997 COL5A2    HPRD  PubMed  
    P13497 Q02388 COL7A1    HPRD  PubMed  
    P13497 P98160 HSPG2    HPRD  PubMed  
    P13497 Q16787 LAMA3    HPRD  PubMed  
    P13497 Q13751 LAMB3    HPRD  PubMed  
    P13497 Q13753 LAMC2    HPRD  PubMed  
    P13497 Q9GZX9 TWSG1    HPRD  PubMed  
    P13497 YLP motif containing 1 YLPM1    HPRD  PubMed  
    BioGRID:107117 BioGRID:114198 CHRD    BioGRID  PubMed Biochemical Activity 
    BioGRID:107117 BioGRID:108937 GEM    BioGRID  PubMed Two-hybrid 
    BioGRID:107117 BioGRID:113010 TP53    BioGRID  PubMed Two-hybrid 

    General gene information

    Markers

    Homology

    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...
    • 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...

    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
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    peptidase activity IEA
    Inferred from Electronic Annotation
    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
     
    lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    lipoprotein metabolic process TAS
    Traceable Author Statement
    more info
     
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    skeletal system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein 1
    Names
    bone morphogenetic protein 1
    procollagen C-proteinase
    mammalian tolloid protein
    procollagen C-endopeptidase
    NP_001190.1
    NP_006120.1

    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

      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, OTTHUMP00000227399, ENST00000306349, OTTHUMT00000375386
      Conserved Domains (4) summary
      cd00041
      Location:591702
      Blast Score: 336
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00054
      Location:547588
      Blast Score: 112
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd04281
      Location:126320
      Blast Score: 1021
      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, ...
      pfam01400
      Location:128321
      Blast Score: 828
      Astacin; Astacin (Peptidase family M12A)
    2. NM_006129.4NP_006120.1  bone morphogenetic protein 1 isoform 3 precursor

      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, OTTHUMP00000123391, ENST00000306385, OTTHUMT00000214995
      Conserved Domains (5) summary
      cd00041
      Location:747855
      Blast Score: 334
      CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
      cd00054
      Location:547588
      Blast Score: 108
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      cd04281
      Location:126320
      Blast Score: 1021
      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, ...
      pfam01400
      Location:128321
      Blast Score: 825
      Astacin; Astacin (Peptidase family M12A)
      cl09941
      Location:703733
      Blast Score: 100
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    RNA

    1. NR_033403.1 RNA Sequence

      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
    2. NR_033404.1 RNA Sequence

      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

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000008.10 Reference GRCh37.p5 Primary Assembly

      Range
      22022653..22069839
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000140.1 Alternate HuRef

      Range
      20564967..20612031
      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.

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC105206.8 (75524..122471) None
    genomic CH471080.2 EAW63697.1
      EAW63698.1
      EAW63702.1
    mRNA AB209590.1 BAD92827.1
    mRNA AF318323.1 AAL55830.1
    mRNA AK126396.1 None
    mRNA AK226123.1 None
    mRNA AK291620.1 BAF84309.1
    mRNA AL137746.1 None
    mRNA BC002593.2 None
    mRNA BC009305.2 None
    mRNA BC032105.2 None
    mRNA BC044626.1 None
    mRNA BC101763.1 AAI01764.1
    mRNA BC101765.1 AAI01766.1
    mRNA BC136679.1 AAI36680.1
    mRNA BC142953.1 AAI42954.1
    mRNA BC143338.1 AAI43339.1
    mRNA BC144365.1 None
    mRNA BC144366.1 None
    mRNA BE619065.1 None
    mRNA BU627735.1 None
    mRNA DA720194.1 None
    mRNA DA864391.1 None
    mRNA DR004420.1 None
    mRNA L35278.1 AAC41703.1
    mRNA L35279.1 AAC41710.1
    mRNA M22488.1 AAA51833.1
    mRNA U50330.1 AAA93462.1
    mRNA Y08723.1 CAA69973.1
    mRNA Y08724.1 CAA69974.1
    mRNA Y08725.1 CAA69975.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13497.2 GenPept UniProtKB/Swiss-Prot:P13497
    Q3MIM8 GenPept UniProtKB/TrEMBL:Q3MIM8
    Q59F71 GenPept UniProtKB/TrEMBL:Q59F71
    Q8WYX3 GenPept UniProtKB/TrEMBL:Q8WYX3

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