MATN1
| Matrilin 1, cartilage matrix protein | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | MATN1 ; CMP; CRTM | ||||||||||||
| External IDs | OMIM: 115437 MGI: 106591 HomoloGene: 1783 GeneCards: MATN1 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 4146 | 17180 | |||||||||||
| Ensembl | ENSG00000162510 | ENSMUSG00000040533 | |||||||||||
| UniProt | P21941 | P51942 | |||||||||||
| RefSeq (mRNA) | NM_002379 | NM_010769 | |||||||||||
| RefSeq (protein) | NP_002370 | NP_034899 | |||||||||||
| Location (UCSC) | Chr 1: 31.18 – 31.2 Mb | Chr 4: 130.94 – 130.96 Mb | |||||||||||
| PubMed search | |||||||||||||
Matrilin 1, cartilage matrix protein, also known as MATN1, is a protein which in humans is encoded by the MATN1 gene.[1][2][3]
Function
This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias.[1] Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.[4]
References
- ↑ 1.0 1.1 "Entrez Gene: MATN1 matrilin 1, cartilage matrix protein".
- ↑ Jenkins RN, Osborne-Lawrence SL, Sinclair AK, Eddy RL, Byers MG, Shows TB, Duby AD (November 1990). "Structure and chromosomal location of the human gene encoding cartilage matrix protein". J. Biol. Chem. 265 (32): 19624–31. PMID 2246248.
- ↑ Deák F, Piecha D, Bachrati C, Paulsson M, Kiss I (April 1997). "Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily". J. Biol. Chem. 272 (14): 9268–74. doi:10.1074/jbc.272.14.9268. PMID 9083061.
- ↑ Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR (2006). "Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis". Scoliosis 1: 21. doi:10.1186/1748-7161-1-21. PMC 1769398. PMID 17176459.
Further reading
- Jenkins RN, Osborne-Lawrence SL, Sinclair AK et al. (1991). "Structure and chromosomal location of the human gene encoding cartilage matrix protein". J. Biol. Chem. 265 (32): 19624–31. PMID 2246248.
- Loughlin J, Irven C, Sykes B (1995). "Exclusion of the cartilage link protein and the cartilage matrix protein genes as the mutant loci in several heritable chondrodysplasias". Hum. Genet. 94 (6): 698–700. doi:10.1007/bf00206966. PMID 7989046.
- Deák F, Piecha D, Bachrati C et al. (1997). "Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily". J. Biol. Chem. 272 (14): 9268–74. doi:10.1074/jbc.272.14.9268. PMID 9083061.
- Makihira S, Yan W, Ohno S et al. (1999). "Enhancement of cell adhesion and spreading by a cartilage-specific noncollagenous protein, cartilage matrix protein (CMP/Matrilin-1), via integrin alpha1beta1". J. Biol. Chem. 274 (16): 11417–23. doi:10.1074/jbc.274.16.11417. PMID 10196235.
- Hansson AS, Lu S, Holmdahl R (2002). "Extra-articular cartilage affected in collagen-induced, but not pristane-induced, arthritis models". Clin. Exp. Immunol. 127 (1): 37–42. doi:10.1046/j.1365-2249.2002.01712.x. PMC 1906294. PMID 11882030.
- Frank S, Schulthess T, Landwehr R et al. (2002). "Characterization of the matrilin coiled-coil domains reveals seven novel isoforms". J. Biol. Chem. 277 (21): 19071–9. doi:10.1074/jbc.M202146200. PMID 11896063.
- Song HR, Li QW, Oh CW et al. (2004). "Mesomelic dwarfism in pseudoachondroplasia". Journal of pediatric orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America 13 (5): 340–4. PMID 15552564.
- Otsuki T, Ota T, Nishikawa T et al. (2007). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Res. 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Gregory SG, Barlow KF, McLay KE et al. (2006). "The DNA sequence and biological annotation of human chromosome 1". Nature 441 (7091): 315–21. doi:10.1038/nature04727. PMID 16710414.