Cartilage oligomeric matrix protein

COMP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3FBY
Identifiers
Aliases	COMP , EDM1, EPD1, MED, PSACH, THBS5, cartilage oligomeric matrix protein, TSP5, CTS2
External IDs	OMIM: 600310; MGI: 88469; HomoloGene: 74; GeneCards: COMP; OMA:COMP - orthologs
Gene location (Human) Chr. Chromosome 19 (human) [1] Band 19p13.11 Start 18,782,773 bp [1] End 18,791,305 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8 B3.3|8 34.15 cM Start 70,826,208 bp [2] End 70,834,716 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia cartilage tissue Achilles tendon tendon of biceps brachii synovial joint popliteal artery tibial arteries saphenous vein urethra ascending aorta Top expressed in ankle tibiofemoral joint fossa trachea intercostal muscle seminiferous tubule condyle spermatid skin of external ear calvaria More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protease binding calcium ion binding heparan sulfate proteoglycan binding heparin binding extracellular matrix structural constituent protein binding collagen binding integrin binding BMP binding proteoglycan binding Cellular component extracellular matrix extracellular exosome extracellular space extracellular region protein-containing complex collagen-containing extracellular matrix Biological process animal organ morphogenesis growth plate cartilage development skeletal system development cell adhesion extracellular matrix organization negative regulation of apoptotic process limb development apoptotic process ossification chondrocyte development endochondral bone growth response to unfolded protein blood coagulation protein secretion multicellular organism aging regulation of gene expression vascular associated smooth muscle contraction protein processing collagen fibril organization bone mineralization regulation of bone mineralization BMP signaling pathway multicellular organism growth chondrocyte proliferation tendon development skin development artery morphogenesis musculoskeletal movement neuromuscular process cartilage development bone morphogenesis platelet aggregation vascular associated smooth muscle cell development bone growth negative regulation of hemostasis positive regulation of chondrocyte proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1311 12845 Ensembl ENSG00000105664 ENSMUSG00000031849 UniProt P49747 Q9R0G6 RefSeq (mRNA) NM_000095 NM_016685 RefSeq (protein) NP_000086 NP_057894 Location (UCSC) Chr 19: 18.78 – 18.79 Mb Chr 8: 70.83 – 70.83 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Cartilage oligomeric matrix protein (COMP), also known as thrombospondin-5, is an extracellular matrix (ECM) protein primarily present in cartilage. In humans it is encoded by the COMP gene. ^{[5] [6] [7]}

Function

The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. ^[8] 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 disulfide bonds. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Mutations can cause the osteochondrodysplasias pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). ^[7]

COMP is a marker of cartilage turnover. ^[9] It is present in high quantities in fibrotic scars and systemic sclerosis, and it appears to have a role in vascular wall remodeling. ^[10]

References

1. GRCh38: Ensembl release 89: ENSG00000105664 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000031849 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Newton G, Weremowicz S, Morton CC, Copeland NG, Gilbert DJ, Jenkins NA, Lawler J (Dec 1994). "Characterization of human and mouse cartilage oligomeric matrix protein". Genomics. 24 (3): 435–9. doi:10.1006/geno.1994.1649. PMID   7713493.
6. Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH (Dec 1993). "Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19". Genomics. 18 (3): 656–60. doi:10.1016/S0888-7543(05)80369-6. PMID   8307576.
7. "Entrez Gene: COMP cartilage oligomeric matrix protein".
8. Paulsson M, Heinegård D (Aug 1981). "Purification and structural characterization of a cartilage matrix protein". The Biochemical Journal. 197 (2): 367–75. doi:10.1042/bj1970367. PMC   1163135 . PMID   7325960.
9. Petersen SG, Saxne T, Heinegard D, Hansen M, Holm L, Koskinen S, Stordal C, Christensen H, Aagaard P, Kjaer M (Jan 2010). "Glucosamine but not ibuprofen alters cartilage turnover in osteoarthritis patients in response to physical training". Osteoarthritis and Cartilage. 18 (1): 34–40. doi: 10.1016/j.joca.2009.07.004 . PMID   19679221.
10. Halper J, Kjaer M (2014). "Basic Components of Connective Tissues and Extracellular Matrix: Elastin, Fibrillin, Fibulins, Fibrinogen, Fibronectin, Laminin, Tenascins and Thrombospondins". Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 31–47. doi:10.1007/978-94-007-7893-1_3. ISBN   978-94-007-7892-4. PMID   24443019.

Further reading

• Unger S, Hecht JT (2002). "Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments". American Journal of Medical Genetics. 106 (4): 244–50. doi:10.1002/ajmg.10234. PMID   11891674.
• Liu C (2006). "Transcriptional mechanism of COMP gene expression and chondrogenesis". Journal of Musculoskeletal & Neuronal Interactions. 5 (4): 340–1. PMC   9089272 . PMID   16340129.
• Morozzi G, Fabbroni M, Bellisai F, Pucci G, Galeazzi M (Jun 2007). "Cartilage oligomeric matrix protein level in rheumatic diseases: potential use as a marker for measuring articular cartilage damage and/or the therapeutic efficacy of treatments". Annals of the New York Academy of Sciences. 1108 (1): 398–407. Bibcode:2007NYASA1108..398M. doi:10.1196/annals.1422.041. PMID   17894003. S2CID   23534917.
• Månsson B, Carey D, Alini M, Ionescu M, Rosenberg LC, Poole AR, Heinegård D, Saxne T (Mar 1995). "Cartilage and bone metabolism in rheumatoid arthritis. Differences between rapid and slow progression of disease identified by serum markers of cartilage metabolism". The Journal of Clinical Investigation. 95 (3): 1071–7. doi:10.1172/JCI117753. PMC   441442 . PMID   7533784.
• Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M (Jul 1995). "Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia". Nature Genetics. 10 (3): 325–9. doi:10.1038/ng0795-325. PMID   7670471. S2CID   29506849.
• Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES (Jul 1995). "Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene". Nature Genetics. 10 (3): 330–6. doi:10.1038/ng0795-330. PMID   7670472. S2CID   43867448.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Oehlmann R, Summerville GP, Yeh G, Weaver EJ, Jimenez SA, Knowlton RG (Jan 1994). "Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19". American Journal of Human Genetics. 54 (1): 3–10. PMC   1918067 . PMID   8279467.
• Briggs MD, Rasmussen IM, Weber JL, Yuen J, Reinker K, Garber AP, Rimoin DL, Cohn DH (Dec 1993). "Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19". Genomics. 18 (3): 656–60. doi:10.1016/S0888-7543(05)80369-6. PMID   8307576.
• Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS (Feb 1997). "Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family". American Journal of Medical Genetics. 68 (4): 396–400. doi:10.1002/(SICI)1096-8628(19970211)68:4<396::AID-AJMG4>3.0.CO;2-K. PMID   9021009.
• Susic S, McGrory J, Ahier J, Cole WG (Apr 1997). "Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein". Clinical Genetics. 51 (4): 219–24. doi:10.1111/j.1399-0004.1997.tb02458.x. PMID   9184241. S2CID   35871300.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH (Feb 1998). "Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum". American Journal of Human Genetics. 62 (2): 311–9. doi:10.1086/301713. PMC   1376889 . PMID   9463320.
• Rosenberg K, Olsson H, Mörgelin M, Heinegård D (Aug 1998). "Cartilage oligomeric matrix protein shows high affinity zinc-dependent interaction with triple helical collagen". The Journal of Biological Chemistry. 273 (32): 20397–403. doi: 10.1074/jbc.273.32.20397 . PMID   9685393.
• Hecht JT, Deere M, Putnam E, Cole W, Vertel B, Chen H, Lawler J (Aug 1998). "Characterization of cartilage oligomeric matrix protein (COMP) in human normal and pseudoachondroplasia musculoskeletal tissues". Matrix Biology. 17 (4): 269–78. doi:10.1016/S0945-053X(98)90080-4. PMID   9749943.
• Délot E, King LM, Briggs MD, Wilcox WR, Cohn DH (Jan 1999). "Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene". Human Molecular Genetics. 8 (1): 123–8. doi: 10.1093/hmg/8.1.123 . PMID   9887340.
• Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y (Dec 1998). "Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia". Human Genetics. 103 (6): 633–8. doi:10.1007/s004390050883. PMID   9921895. S2CID   22099443.
• Deere M, Sanford T, Francomano CA, Daniels K, Hecht JT (Aug 1999). "Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia". American Journal of Medical Genetics. 85 (5): 486–90. doi:10.1002/(SICI)1096-8628(19990827)85:5<486::AID-AJMG10>3.0.CO;2-O. PMID   10405447.
• Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegård D, Paulsson M, Maurer P (Mar 2001). "Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX". The Journal of Biological Chemistry. 276 (9): 6083–92. doi: 10.1074/jbc.M009512200 . PMID   11084047.

External links

• GeneReviews/NCBI/NIH/UW entry on Pseudoachondroplasia
• GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
• cartilage+matrix+protein at the U.S. National Library of Medicine Medical Subject Headings (MeSH)