MATN1

From Wikipedia, the free encyclopedia

Matrilin 1, cartilage matrix protein

Identifiers

MATN1; CMP; CRTM

External IDs

OMIM: 115437 MGI: 106591 HomoloGene: 1783

Gene ontology
Molecular Function:	• extracellular matrix structural constituent • collagen binding
Cellular Component:	• proteinaceous extracellular matrix
Biological Process:	• cartilage condensation • protein complex assembly • extracellular matrix organization and biogenesis

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002379 (mRNA)
NP_002370 (protein)

XM_972811 (mRNA)
XP_977905 (protein)

Location

Chr 1: 30.96 - 30.97 Mb

Chr 4: 130.22 - 130.23 Mb

Pubmed search

[1]

[2]

Matrilin 1, cartilage matrix protein, also known as MATN1, is a human gene.^[1]

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]

[edit] References

^ ^a ^b Entrez Gene: MATN1 matrilin 1, cartilage matrix protein.

[edit] 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. 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. 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. 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. 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.