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COMP cartilage oligomeric matrix protein [ Homo sapiens (human) ]

Gene ID: 1311, updated on 12-Aug-2018
Official Symbol
COMPprovided by HGNC
Official Full Name
cartilage oligomeric matrix proteinprovided by HGNC
Primary source
HGNC:HGNC:2227
See related
Ensembl:ENSG00000105664 MIM:600310; Vega:OTTHUMG00000169318
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
MED; EDM1; EPD1; TSP5; PSACH; THBS5
Summary
The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
Expression
Biased expression in gall bladder (RPKM 9.2), urinary bladder (RPKM 5.7) and 11 other tissues See more
Orthologs
See COMP in Genome Data Viewer
Location:
19p13.11
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (18782773..18791305, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (18893583..18902114, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kelch like family member 26 Neighboring gene CREB regulated transcription coactivator 1 Neighboring gene uncharacterized LOC107985321 Neighboring gene UPF1, RNA helicase and ATPase

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
NHGRI GWA Catalog
  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
    Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
  • Malaria, organism-specific biosystem (from KEGG)
    Malaria, organism-specific biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • Malaria, conserved biosystem (from KEGG)
    Malaria, conserved biosystemPlasmodium protozoa are parasites that account for malaria infection. Sporozoite forms of the parasite are injected by mosquito bites under the skin and are carried to the liver where they develop in...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Phagosome, organism-specific biosystem (from KEGG)
    Phagosome, organism-specific biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
  • Phagosome, conserved biosystem (from KEGG)
    Phagosome, conserved biosystemPhagocytosis is the process of taking in relatively large particles by a cell, and is a central mechanism in the tissue remodeling, inflammation, and defense against infectious agents. A phagosome is...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC131819, MGC149768

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
collagen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix structural constituent HDA PubMed 
extracellular matrix structural constituent IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibronectin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparan sulfate proteoglycan binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparan sulfate proteoglycan binding IDA
Inferred from Direct Assay
more info
PubMed 
heparin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heparin binding IDA
Inferred from Direct Assay
more info
PubMed 
protease binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
vitamin D binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
growth plate cartilage development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth plate cartilage development IEA
Inferred from Electronic Annotation
more info
 
limb development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
limb development IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
cartilage oligomeric matrix protein
Names
cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)
pseudoachondroplasia (epiphyseal dysplasia 1, multiple)
thrombospondin-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.

Genomic

  1. NG_007070.1 RefSeqGene

    Range
    5001..13532
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000095.2NP_000086.2  cartilage oligomeric matrix protein precursor

    See identical proteins and their annotated locations for NP_000086.2

    Status: REVIEWED

    Source sequence(s)
    AU120397, BC033676, L32137
    Consensus CDS
    CCDS12385.1
    UniProtKB/Swiss-Prot
    P49747
    Related
    ENSP00000222271.2, OTTHUMP00000240773, ENST00000222271.6, OTTHUMT00000403457
    Conserved Domains (6) summary
    cd00054
    Location:180216
    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 ...
    sd00001
    Location:396418
    TSP3; TSP3 repeat_short [structural motif]
    sd00002
    Location:301336
    TSP3; TSP3 repeat_long [structural motif]
    cd16077
    Location:3072
    TSP-5cc; Coiled coil region of thrombospondin-5 (TSP-5)
    pfam02412
    Location:301336
    TSP_3; Thrombospondin type 3 repeat
    pfam05735
    Location:546743
    TSP_C; Thrombospondin C-terminal region

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_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    18782773..18791305 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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