Protein-coding gene in the species Homo sapiens
Matrilin 1, cartilage matrix protein , also known as MATN1 , is a matrilin protein which in humans is encoded by the MATN1 gene .[5] [6] [7]
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 .[5] idiopathic scoliosis .[8]
References
^ a b c GRCh38: Ensembl release 89: ENSG00000162510 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040533 – Ensembl , May 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 .^ a b "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. doi :10.1016/S0021-9258(17)45417-2 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. doi :10.1016/S0021-9258(17)45417-2 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 . S2CID 30333805 . 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 B . 13 (5): 340–4. doi :10.1097/01202412-200409000-00012 . PMID 15552564 . S2CID 23170290 . 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. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 PMID 16710414 .
