COMP

COMP
Dostupne strukture
PDB	Pretraga ortologa: PDBe RCSB
Spisak PDB ID kodova
	3FBY
Identifikatori
Aliasi	COMP
Vanjski ID-jevi	OMIM: 600310 MGI: 88469 HomoloGene: 74 GeneCards: COMP
Lokacija gena (čovjek)
Hrom.	Hromosom 19 (čovjek)
Kraj	18,791,305 bp
Lokacija gena (miš)
Hrom.	Hromosom 8 (miš)
Kraj	70,834,716 bp
Obrazac RNK ekspresije
	Više referentnih podataka o ekspresiji
Ontologija gena
Molekularna funkcija	• protease binding; • calcium ion binding; • heparan sulfate proteoglycan binding; • heparin binding; • extracellular matrix structural constituent; • GO:0001948, GO:0016582 vezivanje za proteine; • collagen binding; • integrin binding; • BMP binding; • proteoglycan binding;
Ćelijska komponenta	• GO:0005578 Vanćelijski matriks; • Egzosom; • Vanćelijsko; • extracellular region; • GO:0009327 makromolekulani kompleks; • collagen-containing extracellular matrix;
Biološki proces	• animal organ morphogenesis; • growth plate cartilage development; • skeletal system development; • Ćelijska adhezija; • extracellular matrix organization; • negative regulation of apoptotic process; • limb development; • GO:0097285 apoptoza; • ossification; • chondrocyte development; • endochondral bone growth; • response to unfolded protein; • Koagulacija (krv); • protein secretion; • multicellular organism aging; • Regulacija ekspresije gena; • 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;
	Izvori:Amigo / QuickGO
Ortolozi
	1311
	12845
	ENSG00000105664
	ENSMUSG00000031849
	P49747
	Q9R0G6
	NM_000095
	NM_016685
	NP_000086
	NP_057894
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Oligomerni protein hrskavičnog matriksa (COMP), poznat i kao trombospondin-5, prvenstveno je protein vanćelijskog matriksa (ECM) prisutan u hrskavicama. Kod ljudi je kodiran je genom COMP.^[5]^[6]^[7]

Aminokiselinska sekvenca[uredi | uredi izvor]

Simboli

C: Cistein
D: Asparaginska kiselina
E: Glutaminska kiselina
F: Fenilalanin
G: Glicin
H: Histidin
I: Izoleucin
K: Lizin
L: Leucin
M: Metionin
N: Asparagin
P: Prolin
Q: Glutamin
R: Arginin
S: Serin
T: Treonin
V: Valin
W: Triptofan
Y: Tirozin

10	20	30	40	50
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

Funkcija[uredi | uredi izvor]

Protein koji je kodiran ovim genom je nekolageni vanćelijski matrikssni (ECM) protein.^[8] Sastoji se od pet identičnih glikoproteinskih podjedinica, svaka sa EGF-om i domenima koji vežu kalcij (trombospondini). Oligomerizacija je rezultat stvaranja petolančanih upredenih zavojnica i disulfidnih veza. Čini se da vezanje za druge ECM proteine, poput kolagena, ovisi o dvovalentnim kationima. Mutacije mogu izazvati osteohondrodisplazije pseudoahondroplazije (PSACH) i multiplu epifiznu displaziju (MED).^[7]

COMP je marker prometa hrskavice.^[9] Jako je eksprimiran u fibroznim ožiljcima i sistemskoj sklerozi, a čini se da ima ulogu i u preuređivanju vaskularnog zida.^[10]

Reference[uredi | uredi izvor]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000105664 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031849 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: COMP cartilage oligomeric matrix protein".
^ 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.
^ 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.
^ Halper J, Kjaer M (2014). "Basic components of connective tissues and extracellular matrix: elastin, fibrillin, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins". Advances in Experimental Medicine and Biology. 802: 31–47. doi:10.1007/978-94-007-7893-1_3. ISBN 978-94-007-7892-4. PMID 24443019.

Dopunska literatura[uredi | uredi izvor]

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. 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. 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.

Vanjski linkovi[uredi | uredi izvor]

GeneReviews/NCBI/NIH/UW entry on Pseudoachondroplasia
GeneReviews/NCBI/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
cartilage matrix protein na US National Library of Medicine Medical Subject Headings (MeSH)

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000105664 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031849 - Ensembl, maj 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.

[pmid7713493-5] 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.

[pmid8307576-6] 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.

[entrez-7] "Entrez Gene: COMP cartilage oligomeric matrix protein".

[pmid7325960-8] 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". Advances in Experimental Medicine and Biology. 802: 31–47. doi:10.1007/978-94-007-7893-1_3. ISBN 978-94-007-7892-4. PMID 24443019.

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