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

Gene ID: 653, updated on 26-May-2016
Official Symbol
BMP5provided by HGNC
Official Full Name
bone morphogenetic protein 5provided by HGNC
Primary source
HGNC:HGNC:1072
See related
Ensembl:ENSG00000112175 HPRD:00210; MIM:112265; Vega:OTTHUMG00000014903
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 member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. These proteins are synthesized as prepropeptides, cleaved, and then processed into dimeric proteins. This protein may act as an important signaling molecule within the trabecular meshwork and optic nerve head, and may play a potential role in glaucoma pathogenesis. This gene is differentially regulated during the formation of various tumors. [provided by RefSeq, Jul 2008]
Orthologs
Location:
6p12.1
Exon count:
8
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (55753653..55875593, 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 LOC105375099 Neighboring gene nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 36 Neighboring gene uncharacterized LOC105375100

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC34244

Gene Ontology Provided by GOA

Function Evidence Code Pubs
BMP receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
Process Evidence Code Pubs
BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
cartilage development IEA
Inferred from Electronic Annotation
more info
 
growth IEA
Inferred from Electronic Annotation
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 
ossification IEA
Inferred from Electronic Annotation
more info
 
pattern specification process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA-dependent DNA replication 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 IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
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
 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
membrane-bounded vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
bone morphogenetic protein 5
Names
BMP-5
bone morphogenenic protein-5

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_021073.2NP_066551.1  bone morphogenetic protein 5 preproprotein

    See identical proteins and their annotated locations for NP_066551.1

    Status: REVIEWED

    Source sequence(s)
    BC027958
    Consensus CDS
    CCDS4958.1
    UniProtKB/Swiss-Prot
    P22003
    UniProtKB/TrEMBL
    M9VUD0
    Related
    ENSP00000359866, OTTHUMP00000016650, ENST00000370830, OTTHUMT00000041000
    Conserved Domains (2) summary
    smart00204
    Location:353454
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:28304
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    55753653..55875593 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514816.1XP_011513118.1  

    See identical proteins and their annotated locations for XP_011513118.1

    UniProtKB/Swiss-Prot
    P22003
    Conserved Domains (2) summary
    pfam00019
    Location:350417
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:28304
    TGFb_propeptide; TGF-beta propeptide
  2. XM_005249304.2XP_005249361.1  

    Conserved Domains (1) summary
    pfam00688
    Location:28304
    TGFb_propeptide; TGF-beta propeptide
  3. XM_011514817.1XP_011513119.1  

    Conserved Domains (1) summary
    pfam00688
    Location:28304
    TGFb_propeptide; TGF-beta propeptide

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    55623337..55743453 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)