Matrilin-1

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]

MATN1
Identifiers
Aliases	MATN1, CMP, CRTM, matrilin 1, cartilage matrix protein, matrilin 1
External IDs	OMIM: 115437 MGI: 106591 HomoloGene: 1783 GeneCards: MATN1
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1p35.2 Start 30,711,277 bp[1] End 30,723,585 bp[1]
Gene location (Mouse) Chr. Chromosome 4 (mouse)[2] Band 4 D2.2|4 64.09 cM Start 130,944,385 bp[2] End 130,955,475 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • extracellular matrix structural constituent • GO:0001948 protein binding • calcium ion binding Cellular component • extracellular region • extracellular matrix • collagen-containing extracellular matrix • extracellular Biological process • extracellular matrix organization • chondrocyte differentiation • growth plate cartilage chondrocyte morphogenesis • regulation of bone mineralization • macromolecular complex assembly Sources:Amigo / QuickGO
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: 30.71 – 30.72 Mb	Chr 4: 130.94 – 130.96 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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] Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000162510 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040533 - 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. "Entrez Gene: MATN1 matrilin 1, cartilage matrix protein".
6. 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.
7. 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.
8. 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.