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    BMP5 bone morphogenetic protein 5 [ Homo sapiens (human) ]

    Gene ID: 653, updated on 7-Dec-2018

    Summary

    Official Symbol
    BMP5provided by HGNC
    Official Full Name
    bone morphogenetic protein 5provided by HGNC
    Primary source
    HGNC:HGNC:1072
    See related
    Ensembl:ENSG00000112175 MIM:112265
    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
    Summary
    This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer, which plays a role in bone and cartilage development. Polymorphisms in this gene may be associated with osteoarthritis in human patients. This gene is differentially regulated in multiple human cancers. This gene encodes distinct protein isoforms that may be similarly proteolytically processed. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in placenta (RPKM 11.7), lung (RPKM 3.1) and 7 other tissues See more
    Orthologs

    Genomic context

    See BMP5 in Genome Data Viewer
    Location:
    6p12.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (55753653..55875590, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (55618451..55740388, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene GDNF family receptor alpha like Neighboring gene 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 Neighboring gene uncharacterized LOC107986539 Neighboring gene nucleophosmin 1 pseudogene 36

    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?

    Pathways from BioSystems

    • BMP signaling, organism-specific biosystem (from KEGG)
      BMP signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • BMP signaling, conserved biosystem (from KEGG)
      BMP signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC34244

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    BMP receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    BMP receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    allantois development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterior head development IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac muscle tissue development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cardiac septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    cell development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    chorio-allantoic fusion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ear development IEA
    Inferred from Electronic Annotation
    more info
     
    endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart trabecula morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    hindbrain development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    male genitalia development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of aldosterone biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cortisol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of epithelial to mesenchymal transition NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of extrinsic apoptotic signaling pathway via death domain receptors NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of insulin-like growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of mononuclear cell migration NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of steroid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neural fold elevation formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ossification IEA
    Inferred from Electronic Annotation
    more info
     
    pattern specification process IEA
    Inferred from Electronic Annotation
    more info
     
    pericardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pharyngeal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of dendrite development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of MAPK cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    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 
    type B pancreatic cell development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cellular_component ND
    No biological Data available
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    bone morphogenetic protein 5

    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.

    mRNA and Protein(s)

    1. NM_001329754.1NP_001316683.1  bone morphogenetic protein 5 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK291559, AK303576, AL133386, BC027958, BE501543, BQ025899, DA833638
      UniProtKB/Swiss-Prot
      P22003
      UniProtKB/TrEMBL
      A8K694
      Conserved Domains (2) summary
      pfam00019
      Location:353416
      TGF_beta; Transforming growth factor beta like domain
      pfam00688
      Location:31304
      TGFb_propeptide; TGF-beta propeptide
    2. NM_001329756.1NP_001316685.1  bone morphogenetic protein 5 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate exons in the 3' coding region, resulting in a frameshift and an early stop codon compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL133386, AL137178, BQ025899
      Conserved Domains (1) summary
      pfam00688
      Location:31304
      TGFb_propeptide; TGF-beta propeptide
    3. NM_021073.4NP_066551.1  bone morphogenetic protein 5 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_066551.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK291559, AK303576, AL133386, BC027958, BE501543, BQ025899, DA833638
      Consensus CDS
      CCDS4958.1
      UniProtKB/Swiss-Prot
      P22003
      UniProtKB/TrEMBL
      A8K694, M9VUD0
      Related
      ENSP00000359866.3, ENST00000370830.3
      Conserved Domains (2) summary
      smart00204
      Location:353454
      TGFB; Transforming growth factor-beta (TGF-beta) family
      pfam00688
      Location:31304
      TGFb_propeptide; TGF-beta propeptide

    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_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      55753653..55875590 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514817.3XP_011513119.1  bone morphogenetic protein 5 isoform X1

      Conserved Domains (1) summary
      pfam00688
      Location:31304
      TGFb_propeptide; TGF-beta propeptide
    2. XM_024446524.1XP_024302292.1  bone morphogenetic protein 5 isoform X2

      Conserved Domains (1) summary
      pfam00688
      Location:31229
      TGFb_propeptide; TGF-beta propeptide
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