LOCUS       NM_000095               2452 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.
ACCESSION   NM_000095
VERSION     NM_000095.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2452)
  AUTHORS   Wang,Y., Li,H.T., Liu,G., Jiang,C.S., Ni,Y.H., Zeng,J.H., Lin,X.,
            Wang,Q.Y., Li,D.Z., Wang,W. and Zeng,X.P.
  TITLE     COMP promotes pancreatic fibrosis by activating pancreatic stellate
            cells through CD36-ERK/AKT signaling pathways
  JOURNAL   Cell Signal 118, 111135 (2024)
   PUBMED   38479555
  REMARK    GeneRIF: COMP promotes pancreatic fibrosis by activating pancreatic
            stellate cells through CD36-ERK/AKT signaling pathways.
REFERENCE   2  (bases 1 to 2452)
  AUTHORS   Ding,J.Y., Yan,X., Zhang,R.J., Zhang,H.Q., Kang,L., Jia,C.Y.,
            Thorne,R.F., Liu,X.Y. and Shen,C.L.
  TITLE     Diagnostic value of serum COMP and ADAMTS7 for intervertebral disc
            degeneration
  JOURNAL   Eur J Med Res 29 (1), 196 (2024)
   PUBMED   38528617
  REMARK    GeneRIF: Diagnostic value of serum COMP and ADAMTS7 for
            intervertebral disc degeneration.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2452)
  AUTHORS   de Vasconcelos,B.M., Peeler,J.D., Scribbans,T. and Cornish,S.M.
  TITLE     A preliminary study on the effect of loaded and unloaded exercise
            on N-propeptide of type II collagen and serum cartilage oligomeric
            matrix protein activity of articular cartilage in healthy young
            adults
  JOURNAL   Appl Physiol Nutr Metab 48 (12), 954-961 (2023)
   PUBMED   37556859
  REMARK    GeneRIF: A preliminary study on the effect of loaded and unloaded
            exercise on N-propeptide of type II collagen and serum cartilage
            oligomeric matrix protein activity of articular cartilage in
            healthy young adults.
REFERENCE   4  (bases 1 to 2452)
  AUTHORS   Ong,K.H., Hsieh,Y.Y., Lai,H.Y., Sun,D.P., Chen,T.J., Huang,S.K.,
            Tian,Y.F., Chou,C.L., Shiue,Y.L., Wu,H.C., Chan,T.C., Tsai,H.H.,
            Li,C.F., Su,P.A. and Kuo,Y.H.
  TITLE     Cartilage oligomeric matrix protein overexpression is an
            independent poor prognostic indicator in patients with intrahepatic
            cholangiocarcinoma
  JOURNAL   Sci Rep 13 (1), 17444 (2023)
   PUBMED   37838792
  REMARK    GeneRIF: Cartilage oligomeric matrix protein overexpression is an
            independent poor prognostic indicator in patients with intrahepatic
            cholangiocarcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2452)
  AUTHORS   Briggs,M.D., Hoffman,S.M., King,L.M., Olsen,A.S., Mohrenweiser,H.,
            Leroy,J.G., Mortier,G.R., Rimoin,D.L., Lachman,R.S., Gaines,E.S. et
            al.
  TITLE     Pseudoachondroplasia and multiple epiphyseal dysplasia due to
            mutations in the cartilage oligomeric matrix protein gene
  JOURNAL   Nat Genet 10 (3), 330-336 (1995)
   PUBMED   7670472
REFERENCE   6  (bases 1 to 2452)
  AUTHORS   Hecht,J.T., Nelson,L.D., Crowder,E., Wang,Y., Elder,F.F.,
            Harrison,W.R., Francomano,C.A., Prange,C.K., Lennon,G.G., Deere,M.
            et al.
  TITLE     Mutations in exon 17B of cartilage oligomeric matrix protein (COMP)
            cause pseudoachondroplasia
  JOURNAL   Nat Genet 10 (3), 325-329 (1995)
   PUBMED   7670471
REFERENCE   7  (bases 1 to 2452)
  AUTHORS   Mansson,B., Carey,D., Alini,M., Ionescu,M., Rosenberg,L.C.,
            Poole,A.R., Heinegard,D. and Saxne,T.
  TITLE     Cartilage and bone metabolism in rheumatoid arthritis. Differences
            between rapid and slow progression of disease identified by serum
            markers of cartilage metabolism
  JOURNAL   J Clin Invest 95 (3), 1071-1077 (1995)
   PUBMED   7533784
REFERENCE   8  (bases 1 to 2452)
  AUTHORS   Newton,G., Weremowicz,S., Morton,C.C., Copeland,N.G., Gilbert,D.J.,
            Jenkins,N.A. and Lawler,J.
  TITLE     Characterization of human and mouse cartilage oligomeric matrix
            protein
  JOURNAL   Genomics 24 (3), 435-439 (1994)
   PUBMED   7713493
REFERENCE   9  (bases 1 to 2452)
  AUTHORS   Briggs,M.D. and Wright,M.J.
  TITLE     COMP-Related Pseudoachondroplasia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301660
REFERENCE   10 (bases 1 to 2452)
  AUTHORS   Briggs,M.D., Wright,M.J. and Mortier,G.R.
  TITLE     Multiple Epiphyseal Dysplasia, Autosomal Dominant
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301302
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU120397.1, BC033676.1 and
            L32137.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000095.2.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK223216.1, SRR1660809.75424.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2467144 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000222271.7/ ENSP00000222271.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-683               AU120397.1         1-683
            684-808             BC033676.1         908-1032
            809-889             L32137.1           798-878
            890-1753            BC033676.1         1114-1977
            1754-2378           L32137.1           1743-2367
            2379-2452           BC033676.1         2603-2676
FEATURES             Location/Qualifiers
     source          1..2452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.11"
     gene            1..2452
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="cartilage oligomeric matrix protein"
                     /db_xref="GeneID:1311"
                     /db_xref="HGNC:HGNC:2227"
                     /db_xref="MIM:600310"
     exon            1..115
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             37..2310
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="pseudoachondroplasia (epiphyseal dysplasia 1,
                     multiple); thrombospondin-5; multiple epiphyseal
                     dysplasia; cartilage oligomeric matrix protein
                     (pseudoachondroplasia, epiphyseal dysplasia 1, multiple)"
                     /codon_start=1
                     /product="cartilage oligomeric matrix protein precursor"
                     /protein_id="NP_000086.2"
                     /db_xref="CCDS:CCDS12385.1"
                     /db_xref="GeneID:1311"
                     /db_xref="HGNC:HGNC:2227"
                     /db_xref="MIM:600310"
                     /translation="MVPDTACVLLLTLAALGASGQGQSPLGSDLGPQMLRELQETNAA
                     LQDVRELLRQQVREITFLKNTVMECDACGMQQSVRTGLPSVRPLLHCAPGFCFPGVAC
                     IQTESGARCGPCPAGFTGNGSHCTDVNECNAHPCFPRVRCINTSPGFRCEACPPGYSG
                     PTHQGVGLAFAKANKQVCTDINECETGQHNCVPNSVCINTRGSFQCGPCQPGFVGDQA
                     SGCQRRAQRFCPDGSPSECHEHADCVLERDGSRSCVCAVGWAGNGILCGRDTDLDGFP
                     DEKLRCPERQCRKDNCVTVPNSGQEDVDRDGIGDACDPDADGDGVPNEKDNCPLVRNP
                     DQRNTDEDKWGDACDNCRSQKNDDQKDTDQDGRGDACDDDIDGDRIRNQADNCPRVPN
                     SDQKDSDGDGIGDACDNCPQKSNPDQADVDHDFVGDACDSDQDQDGDGHQDSRDNCPT
                     VPNSAQEDSDHDGQGDACDDDDDNDGVPDSRDNCRLVPNPGQEDADRDGVGDVCQDDF
                     DADKVVDKIDVCPENAEVTLTDFRAFQTVVLDPEGDAQIDPNWVVLNQGREIVQTMNS
                     DPGLAVGYTAFNGVDFEGTFHVNTVTDDDYAGFIFGYQDSSSFYVVMWKQMEQTYWQA
                     NPFRAVAEPGIQLKAVKSSTGPGEQLRNALWHTGDTESQVRLLWKDPRNVGWKDKKSY
                     RWFLQHRPQVGYIRVRFYEGPELVADSNVVLDTTMRGGRLGVFCFSQENIIWANLRYR
                     CNDTIPEDYETHQLRQA"
     exon            116..201
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            202..253
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            254..426
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            427..564
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            565..639
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            640..798
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            799..903
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1011
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1012..1171
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1172..1290
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1291..1343
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1525
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1526..1704
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1705..1753
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1754..1950
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2123
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            2124..2263
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     exon            2264..2452
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2432..2437
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="hexamer: AATAAA"
     polyA_site      2452
                     /gene="COMP"
                     /gene_synonym="CTS2; EDM1; EPD1; MED; PSACH; THBS5; TSP-5;
                     TSP5"
                     /note="major polyA site"
ORIGIN      
        1 agaaagcgag cagccaccca gctccccgcc accgccatgg tccccgacac cgcctgcgtt
       61 cttctgctca ccctggctgc cctcggcgcg tccggacagg gccagagccc gttgggctca
      121 gacctgggcc cgcagatgct tcgggaactg caggaaacca acgcggcgct gcaggacgtg
      181 cgggagctgc tgcggcagca ggtcagggag atcacgttcc tgaaaaacac ggtgatggag
      241 tgtgacgcgt gcgggatgca gcagtcagta cgcaccggcc tacccagcgt gcggcccctg
      301 ctccactgcg cgcccggctt ctgcttcccc ggcgtggcct gcatccagac ggagagcggc
      361 gcgcgctgcg gcccctgccc cgcgggcttc acgggcaacg gctcgcactg caccgacgtc
      421 aacgagtgca acgcccaccc ctgcttcccc cgagtccgct gtatcaacac cagcccgggg
      481 ttccgctgcg aggcttgccc gccggggtac agcggcccca cccaccaggg cgtggggctg
      541 gctttcgcca aggccaacaa gcaggtttgc acggacatca acgagtgtga gaccgggcaa
      601 cataactgcg tccccaactc cgtgtgcatc aacacccggg gctccttcca gtgcggcccg
      661 tgccagcccg gcttcgtggg cgaccaggcg tccggctgcc agcggcgcgc acagcgcttc
      721 tgccccgacg gctcgcccag cgagtgccac gagcatgcag actgcgtcct agagcgcgat
      781 ggctcgcggt cgtgcgtgtg tgccgttggc tgggccggca acgggatcct ctgtggtcgc
      841 gacactgacc tagacggctt cccggacgag aagctgcgct gcccggagcg ccagtgccgt
      901 aaggacaact gcgtgactgt gcccaactca gggcaggagg atgtggaccg cgatggcatc
      961 ggagacgcct gcgatccgga tgccgacggg gacggggtcc ccaatgaaaa ggacaactgc
     1021 ccgctggtgc ggaacccaga ccagcgcaac acggacgagg acaagtgggg cgatgcgtgc
     1081 gacaactgcc ggtcccagaa gaacgacgac caaaaggaca cagaccagga cggccggggc
     1141 gatgcgtgcg acgacgacat cgacggcgac cggatccgca accaggccga caactgccct
     1201 agggtaccca actcagacca gaaggacagt gatggcgatg gtatagggga tgcctgtgac
     1261 aactgtcccc agaagagcaa cccggatcag gcggatgtgg accacgactt tgtgggagat
     1321 gcttgtgaca gcgatcaaga ccaggatgga gacggacatc aggactctcg ggacaactgt
     1381 cccacggtgc ctaacagtgc ccaggaggac tcagaccacg atggccaggg tgatgcctgc
     1441 gacgacgacg acgacaatga cggagtccct gacagtcggg acaactgccg cctggtgcct
     1501 aaccccggcc aggaggacgc ggacagggac ggcgtgggcg acgtgtgcca ggacgacttt
     1561 gatgcagaca aggtggtaga caagatcgac gtgtgtccgg agaacgctga agtcacgctc
     1621 accgacttca gggccttcca gacagtcgtg ctggacccgg agggtgacgc gcagattgac
     1681 cccaactggg tggtgctcaa ccagggaagg gagatcgtgc agacaatgaa cagcgaccca
     1741 ggcctggctg tgggttacac tgccttcaat ggcgtggact tcgagggcac gttccatgtg
     1801 aacacggtca cggatgacga ctatgcgggc ttcatctttg gctaccagga cagctccagc
     1861 ttctacgtgg tcatgtggaa gcagatggag caaacgtatt ggcaggcgaa ccccttccgt
     1921 gctgtggccg agcctggcat ccaactcaag gctgtgaagt cttccacagg ccccggggaa
     1981 cagctgcgga acgctctgtg gcatacagga gacacagagt cccaggtgcg gctgctgtgg
     2041 aaggacccgc gaaacgtggg ttggaaggac aagaagtcct atcgttggtt cctgcagcac
     2101 cggccccaag tgggctacat cagggtgcga ttctatgagg gccctgagct ggtggccgac
     2161 agcaacgtgg tcttggacac aaccatgcgg ggtggccgcc tgggggtctt ctgcttctcc
     2221 caggagaaca tcatctgggc caacctgcgt taccgctgca atgacaccat cccagaggac
     2281 tatgagaccc atcagctgcg gcaagcctag ggaccagggt gaggacccgc cggatgacag
     2341 ccaccctcac cgcggctgga tgggggctct gcacccagcc ccaaggggtg gccgtcctga
     2401 gggggaagtg agaagggctc agagaggaca aaataaagtg tgtgtgcagg ga
//
