Details for: COMP
Associated with
Other Information
Genular Protein ID: 1907263999
Symbol: COMP_HUMAN
Name: Thrombospondin-5
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7713493
Title: Characterization of human and mouse cartilage oligomeric matrix protein.
PubMed ID: 7713493
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 15057824
Title: The DNA sequence and biology of human chromosome 19.
PubMed ID: 15057824
DOI: 10.1038/nature02399
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 7670472
Title: Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
PubMed ID: 7670472
DOI: 10.1038/ng0795-330
PubMed ID: 10852928
Title: Cartilage oligomeric matrix protein is a calcium-binding protein, and a mutation in its type 3 repeats causes conformational changes.
PubMed ID: 10852928
PubMed ID: 11084047
Title: Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.
PubMed ID: 11084047
PubMed ID: 12225811
Title: Matrix-matrix interaction of cartilage oligomeric matrix protein and fibronectin.
PubMed ID: 12225811
PubMed ID: 15075323
Title: Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias.
PubMed ID: 15075323
PubMed ID: 16051604
Title: Cartilage oligomeric matrix protein/thrombospondin 5 supports chondrocyte attachment through interaction with integrins.
PubMed ID: 16051604
PubMed ID: 16542502
Title: Cartilage oligomeric matrix protein is involved in human limb development and in the pathogenesis of osteoarthritis.
PubMed ID: 16542502
DOI: 10.1186/ar1922
PubMed ID: 16611630
Title: ADAMTS-12 associates with and degrades cartilage oligomeric matrix protein.
PubMed ID: 16611630
PubMed ID: 17588949
Title: Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan.
PubMed ID: 17588949
PubMed ID: 17993464
Title: Cartilage oligomeric matrix protein protects cells against death by elevating members of the IAP family of survival proteins.
PubMed ID: 17993464
PubMed ID: 24275569
Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
PubMed ID: 24275569
PubMed ID: 19276170
Title: The crystal structure of the signature domain of cartilage oligomeric matrix protein: implications for collagen, glycosaminoglycan and integrin binding.
PubMed ID: 19276170
DOI: 10.1096/fj.08-128090
PubMed ID: 7670471
Title: Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
PubMed ID: 7670471
DOI: 10.1038/ng0795-325
PubMed ID: 9021009
Title: Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
PubMed ID: 9021009
DOI: 10.1002/(sici)1096-8628(19970211)68:4<396::aid-ajmg4>3.3.co;2-r
PubMed ID: 9184241
Title: Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
PubMed ID: 9184241
PubMed ID: 9463320
Title: Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
PubMed ID: 9463320
DOI: 10.1086/301713
PubMed ID: 9921895
Title: Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
PubMed ID: 9921895
PubMed ID: 9452026
Title: Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
PubMed ID: 9452026
PubMed ID: 9452063
Title: Pseudoachondroplasia due to the substitution of the highly conserved Asp482 by Gly in the seventh calmodulin-like repeat of cartilage oligomeric matrix protein.
PubMed ID: 9452063
PubMed ID: 11746045
Title: Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
PubMed ID: 11746045
DOI: 10.1002/ajmg.10062
PubMed ID: 11746044
Title: Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
PubMed ID: 11746044
DOI: 10.1002/ajmg.10067
PubMed ID: 11565064
Title: A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.
PubMed ID: 11565064
DOI: 10.1086/324023
PubMed ID: 21922596
Title: Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
PubMed ID: 21922596
DOI: 10.1002/humu.21611
PubMed ID: 32686688
Title: Mutations in COMP cause familial carpal tunnel syndrome.
PubMed ID: 32686688
PubMed ID: 32747625
Title: Author Correction: Mutations in COMP cause familial carpal tunnel syndrome.
PubMed ID: 32747625
Sequence Information:
- Length: 757
- Mass: 82860
- Checksum: A0B73AADB39FBC7B
- Sequence:
MVPDTACVLL LTLAALGASG QGQSPLGSDL GPQMLRELQE TNAALQDVRE LLRQQVREIT FLKNTVMECD ACGMQQSVRT GLPSVRPLLH CAPGFCFPGV ACIQTESGAR CGPCPAGFTG NGSHCTDVNE CNAHPCFPRV RCINTSPGFR CEACPPGYSG PTHQGVGLAF AKANKQVCTD INECETGQHN CVPNSVCINT RGSFQCGPCQ PGFVGDQASG CQRRAQRFCP DGSPSECHEH ADCVLERDGS RSCVCAVGWA GNGILCGRDT DLDGFPDEKL RCPERQCRKD NCVTVPNSGQ EDVDRDGIGD ACDPDADGDG VPNEKDNCPL VRNPDQRNTD EDKWGDACDN CRSQKNDDQK DTDQDGRGDA CDDDIDGDRI RNQADNCPRV PNSDQKDSDG DGIGDACDNC PQKSNPDQAD VDHDFVGDAC DSDQDQDGDG HQDSRDNCPT VPNSAQEDSD HDGQGDACDD DDDNDGVPDS RDNCRLVPNP GQEDADRDGV GDVCQDDFDA DKVVDKIDVC PENAEVTLTD FRAFQTVVLD PEGDAQIDPN WVVLNQGREI VQTMNSDPGL AVGYTAFNGV DFEGTFHVNT VTDDDYAGFI FGYQDSSSFY VVMWKQMEQT YWQANPFRAV AEPGIQLKAV KSSTGPGEQL RNALWHTGDT ESQVRLLWKD PRNVGWKDKK SYRWFLQHRP QVGYIRVRFY EGPELVADSN VVLDTTMRGG RLGVFCFSQE NIIWANLRYR CNDTIPEDYE THQLRQA
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.