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

    Gene ID: 649, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:1067
    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
    mouse all
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    Genomic context

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    See BMP1 in Genome Data Viewer
    Location:
    8p21.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (22165372..22212326)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (22439316..22486280)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (22022885..22069839)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 8:22014424 Neighboring gene leucine rich repeat LGI family member 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18982 Neighboring gene surfactant protein C Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22031123-22031622 Neighboring gene uncharacterized LOC124901904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22046165-22046665 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22048316-22049515 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:22052064-22053263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22054519-22055286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22067676-22068367 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22068368-22069058 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22069059-22069750 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22071895-22072757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22077527-22078227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:22081363-22081865 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:22084886-22086085 Neighboring gene phytanoyl-CoA 2-hydroxylase interacting protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102823 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:22089242-22089989 Neighboring gene Sharpr-MPRA regulatory region 11422 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:22102421-22103088 Neighboring gene microRNA 320a

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Contextual effect of repression of bone morphogenetic protein activity in prostate cancer. Pham LK, et al. Endocr Relat Cancer, 2013 Dec. PMID 24042462, Free PMC Article
    2. [Role of bone morphogenetic protein 1/tolloid proteinase family in the development of teeth and bone]. Xie XD, et al. Hua Xi Kou Qiang Yi Xue Za Zhi, 2020 Oct 1. PMID 33085247, Free PMC Article
    3. Post-translational modification of bone morphogenetic protein-1 is required for secretion and stability of the protein. Garrigue-Antar L, et al. J Biol Chem, 2002 Nov 8. PMID 12218058
    4. Survival impact of psammoma body, stromal calcification, and bone formation in papillary thyroid carcinoma. Bai Y, et al. Mod Pathol, 2009 Jul. PMID 19305382
    5. Bone morphogenetic protein-1 (BMP-1). Identification of the minimal domain structure for procollagen C-proteinase activity. Hartigan N, et al. J Biol Chem, 2003 May 16. PMID 12637537

    See all (115) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. BMP1 Promotes Keloid by Inducing Fibroblast Inflammation and Fibrogenesis.
      Title: BMP1 Promotes Keloid by Inducing Fibroblast Inflammation and Fibrogenesis.
    2. Activated hepatic stellate cell-derived Bmp-1 induces liver fibrosis via mediating hepatocyte epithelial-mesenchymal transition.
      Title: Activated hepatic stellate cell-derived Bmp-1 induces liver fibrosis via mediating hepatocyte epithelial-mesenchymal transition.
    3. Characterization of erythroferrone oligomerization and its impact on BMP antagonism.
      Title: Characterization of erythroferrone oligomerization and its impact on BMP antagonism.
    4. Bone morphogenetic protein and cancer in spinal fusion: a propensity score-matched analysis.
      Title: Bone morphogenetic protein and cancer in spinal fusion: a propensity score-matched analysis.
    5. Proteolysis of the low-density lipoprotein receptor in hepatocytes is mediated by BMP1 but not by other astacin proteases.
      Title: Proteolysis of the low-density lipoprotein receptor in hepatocytes is mediated by BMP1 but not by other astacin proteases.
    6. KRAS mutation-induced EndMT of brain arteriovenous malformation is mediated through the TGF-beta/BMP-SMAD4 pathway.
      Title: KRAS mutation-induced EndMT of brain arteriovenous malformation is mediated through the TGF-β/BMP-SMAD4 pathway.
    7. The role of stromal BMP/CXCL12 signaling axis in serrated polyp development.
      Title: The role of stromal BMP/CXCL12 signaling axis in serrated polyp development.
    8. Bone morphogenetic protein signaling is a possible therapeutic target in gynecologic cancer.
      Title: Bone morphogenetic protein signaling is a possible therapeutic target in gynecologic cancer.
    9. An Analysis of BMP1 Associated with m6A Modification and Immune Infiltration in Pancancer.
      Title: An Analysis of BMP1 Associated with m6A Modification and Immune Infiltration in Pancancer.
    10. Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
      Title: Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfecta.
    Submit: New GeneRIF Correction See all GeneRIFs (71)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Osteogenesis imperfecta type 13
    MedGen: C3553887 OMIM: 614856 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 dorsal/ventral pattern formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 protein processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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)

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    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_001199.4 → NP_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/TrEMBL
      Q59F71
      Related
      ENSP00000306121.8, ENST00000306349.13
      Conserved Domains (4) summary
      cd04281
      Location:121 → 320
      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:435 → 544
      CUB; CUB domain
      pfam01400
      Location:128 → 321
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:555 → 587
      FXa_inhibition; Coagulation Factor Xa inhibitory site

    2. NM_006129.5 → NP_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
      A8K6F5, B2RN46, D3DSR0, P13497, Q13292, Q13872, Q14874, Q99421, Q99422, Q99423, Q9UL38
      UniProtKB/TrEMBL
      A5PLK9
      Related
      ENSP00000305714.5, ENST00000306385.10
      Conserved Domains (4) summary
      cd04281
      Location:121 → 320
      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:435 → 544
      CUB; CUB domain
      pfam01400
      Location:128 → 321
      Astacin; Astacin (Peptidase family M12A)
      pfam14670
      Location:707 → 742
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      22439316..22486280
      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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P13497.2 GenPept UniProtKB/Swiss-Prot:P13497

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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