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Gene Review

MATN1  -  matrilin 1, cartilage matrix protein

Homo sapiens

Synonyms: CMP, CRTM, Cartilage matrix protein, Matrilin-1
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Disease relevance of MATN1

  • ETDT evidenced a significant preferential transmission for the 103 bp allele (Chi-square = 5.058, df = 1, P = 0.024) CONCLUSION: The results suggest that the familial idiopathic scoliosis is associated to the MATN1 gene [1].
  • Analysis of the association of the matrillin-1 gene (CRTM) with osteoarthritis: comment on the article by Meulenbelt et al [2].
  • Autoreactivity against matrilin-1 in a patient with relapsing polychondritis [3].
  • RESULTS: Matrilin-1 expression was detected in both patient groups with TMJ ankylosis and arthritis, and the level was remarkably higher in arthritic cartilage [4].
  • OBJECTIVE: It has been suggested that genotypic variation in the gene which encodes the matrilin-1 (MATN-1) protein may be involved in the development of hip osteoarthritis (OA) [5].

High impact information on MATN1

  • These are the first mutations to be identified in any of the genes encoding the matrilin family of proteins and confirm a role for matrilin-3 in the development and homeostasis of cartilage and bone [6].
  • Northern blot, immunohistochemical, and biochemical analyses indicated no compensatory upregulation of any other member of the matrilin family [7].
  • Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene [8].
  • In a screen for ligands of matrilin-1, -3, and -4 using an ELISA-style binding assay, COMP was identified as a prominent binding partner for all three, indicating a conservation of the COMP interaction among matrilins [9].
  • Interestingly, a distinct heterotrimer consisting of three different chains was formed between matrilin-1, matrilin-2, and matrilin-4 [10].

Biological context of MATN1


Anatomical context of MATN1


Other interactions of MATN1


Analytical, diagnostic and therapeutic context of MATN1

  • Immunohistochemistry of tissue sections confirmed that both matrilin-1 and matrilin-3 are widely codistributed throughout human skeletal growth cartilage [12].
  • Extracts of fetal skeletal cartilage were resolved by SDS-PAGE and candidate matrilin subunits were identified by electrospray mass spectrometry of tryptic peptides [12].
  • In addition, nasal vaccination with collagen type II prior to immunization in DA rats significantly decreased the antibody response to matrilin-1 at day 56, but not at earlier time points, indicating a late protective effect on extra-articular cartilage [19].
  • The matrilin-1 and -3a genes were mapped to chromosome 19 and 20 respectively by the radiation hybrid method [20].
  • The authenticity of the purified hCMP was confirmed by sequence analysis of N-terminal amino acids [21].


  1. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. Montanaro, L., Parisini, P., Greggi, T., Di Silvestre, M., Campoccia, D., Rizzi, S., Arciola, C.R. Scoliosis (2006) [Pubmed]
  2. Analysis of the association of the matrillin-1 gene (CRTM) with osteoarthritis: comment on the article by Meulenbelt et al. Loughlin, J., Dowling, B., Mustafa, Z., Smith, A., Sykes, B., Chapman, K. Arthritis Rheum. (2000) [Pubmed]
  3. Autoreactivity against matrilin-1 in a patient with relapsing polychondritis. Buckner, J.H., Wu, J.J., Reife, R.A., Terato, K., Eyre, D.R. Arthritis Rheum. (2000) [Pubmed]
  4. Immunohistochemical study of matrilin-1 in arthritic articular cartilage of the mandibular condyle. Ohno, S., Murakami, K., Tanimoto, K., Sugiyama, H., Makihira, S., Shibata, T., Yoneno, K., Kato, Y., Tanne, K. J. Oral Pathol. Med. (2003) [Pubmed]
  5. Association analysis of genotypic frequencies of matrilin-1 gene in patients with osteoarthritis. Strusberg, I., Sembaj, A., Tabares, S., Strusberg, A.M., del Castillo, I., Villamar, M., Barral, J.M. Clinical and experimental rheumatology. (2002) [Pubmed]
  6. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia. Chapman, K.L., Mortier, G.R., Chapman, K., Loughlin, J., Grant, M.E., Briggs, M.D. Nat. Genet. (2001) [Pubmed]
  7. Matrilin-3 is dispensable for mouse skeletal growth and development. Ko, Y., Kobbe, B., Nicolae, C., Miosge, N., Paulsson, M., Wagener, R., Aszódi, A. Mol. Cell. Biol. (2004) [Pubmed]
  8. Polymorphic dinucleotide repeat in a cartilage matrix protein (CRTM) gene. Wang, Y., Sadler, L., Hecht, J.T. Hum. Mol. Genet. (1992) [Pubmed]
  9. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. Mann, H.H., Ozbek, S., Engel, J., Paulsson, M., Wagener, R. J. Biol. Chem. (2004) [Pubmed]
  10. Characterization of the matrilin coiled-coil domains reveals seven novel isoforms. Frank, S., Schulthess, T., Landwehr, R., Lustig, A., Mini, T., Jenö, P., Engel, J., Kammerer, R.A. J. Biol. Chem. (2002) [Pubmed]
  11. Enhancement of cell adhesion and spreading by a cartilage-specific noncollagenous protein, cartilage matrix protein (CMP/Matrilin-1), via integrin alpha1beta1. Makihira, S., Yan, W., Ohno, S., Kawamoto, T., Fujimoto, K., Okimura, A., Yoshida, E., Noshiro, M., Hamada, T., Kato, Y. J. Biol. Chem. (1999) [Pubmed]
  12. Molecular properties of matrilin-3 isolated from human growth cartilage. Kleemann-Fischer, D., Kleemann, G.R., Engel, D., Yates, J.R., Wu, J.J., Eyre, D.R. Arch. Biochem. Biophys. (2001) [Pubmed]
  13. Primary structure of human matrilin-2, chromosome location of the MATN2 gene and conservation of an AT-AC intron in matrilin genes. Muratoglu, S., Krysan, K., Balázs, M., Sheng, H., Zákány, R., Módis, L., Kiss, I., Deák, F. Cytogenet. Cell Genet. (2000) [Pubmed]
  14. The matrilins--adaptor proteins in the extracellular matrix. Wagener, R., Ehlen, H.W., Ko, Y.P., Kobbe, B., Mann, H.H., Sengle, G., Paulsson, M. FEBS Lett. (2005) [Pubmed]
  15. Pericellular matrilins regulate activation of chondrocytes by cyclic load-induced matrix deformation. Kanbe, K., Yang, X., Wei, L., Sun, C., Chen, Q. J. Bone Miner. Res. (2007) [Pubmed]
  16. Matrilin-3 forms disulfide-linked oligomers with matrilin-1 in bovine epiphyseal cartilage. Wu, J.J., Eyre, D.R. J. Biol. Chem. (1998) [Pubmed]
  17. Matrilins mediate weak cell attachment without promoting focal adhesion formation. Mann, H.H., Sengle, G., Gebauer, J.M., Eble, J.A., Paulsson, M., Wagener, R. Matrix Biol. (2007) [Pubmed]
  18. The matrilins: a novel family of oligomeric extracellular matrix proteins. Deák, F., Wagener, R., Kiss, I., Paulsson, M. Matrix Biol. (1999) [Pubmed]
  19. Extra-articular cartilage affected in collagen-induced, but not pristane-induced, arthritis models. Hansson, A.S., Lu, S., Holmdahl, R. Clin. Exp. Immunol. (2002) [Pubmed]
  20. Zebrafish (Danio rerio) matrilins: shared and divergent characteristics with their mammalian counterparts. Ko, Y.P., Kobbe, B., Paulsson, M., Wagener, R. Biochem. J. (2005) [Pubmed]
  21. Purification and characterization of human caseinomacropeptide produced by a recombinant Saccharomyces cerevisiae. Kim, Y.J., Park, S., Oh, Y.K., Kang, W., Kim, H.S., Lee, E.Y. Protein Expr. Purif. (2005) [Pubmed]
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