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

    Gene ID: 1311, updated on 17-Jun-2024

    Summary

    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; AllianceGenome:HGNC:2227
    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; CTS2; EDM1; EPD1; TSP5; PSACH; THBS5; TSP-5
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See COMP in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (18782773..18791305, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (18918369..18926902, complement)
    105.20220307 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 Sharpr-MPRA regulatory region 5939 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18748277-18748791 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18758904-18759714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18759715-18760525 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18762196-18762783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768110-18768641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18768642-18769172 Neighboring gene kelch like family member 26 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18771679-18772215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18783189-18783923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18806569-18807467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18810877-18811723 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14331 Neighboring gene CREB regulated transcription coactivator 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18820620-18821614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18859933-18860916 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18878537-18879414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18879415-18880291 Neighboring gene Sharpr-MPRA regulatory region 9725 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10417 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18900694-18901273 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901274-18901854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18901855-18902433 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:18905989-18906518 Neighboring gene Sharpr-MPRA regulatory region 2922 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10418 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10420 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10421 Neighboring gene NANOG hESC enhancer GRCh37_chr19:18944963-18945515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14333 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:18960435-18960659 Neighboring gene UPF1 RNA helicase and ATPase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10422 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:18994867-18995367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10424 Neighboring gene ceramide synthase 1 Neighboring gene growth differentiation factor 1

    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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC131819, MGC149768

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables BMP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables collagen binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables heparan sulfate proteoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables proteoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular senescence IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chondrocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in growth plate cartilage development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in limb development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in musculoskeletal movement IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of hemostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in platelet aggregation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of chondrocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein homooligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein processing IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of bone mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to unfolded protein IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in skin development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tendon development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular associated smooth muscle cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular associated smooth muscle contraction IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cartilage oligomeric matrix protein
    Names
    cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)
    multiple epiphyseal dysplasia
    pseudoachondroplasia (epiphyseal dysplasia 1, multiple)
    thrombospondin-5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_007070.2 RefSeqGene

      Range
      5000..13532
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000095.3NP_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
      B4DKJ3, O14592, P49747, Q16388, Q16389, Q2NL86, Q8N4T2
      UniProtKB/TrEMBL
      A8K3I0
      Related
      ENSP00000222271.2, ENST00000222271.7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      18918369..18926902 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)