Matrilin-1

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)
End	30,723,585 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	130,682,786 bp
RNA expression pattern
	Top expressed in
	tibia; ; trachea; ; internal globus pallidus; ; bone marrow; ; cervix; ; fallopian tube; ; canal of the cervix; ; spinal cord; ; muscle tissue; ; occipital lobe;
	Top expressed in
	occiput; ; occipital bone; ; splanchnocranium; ; toe; ; rib; ; thyroid cartilage; ; humerus; ; sphenoid bone; ; ilium; ; shoulder;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	extracellular matrix structural constituent ; protein binding ; calcium ion binding ;
Cellular component	extracellular region ; extracellular matrix ; collagen-containing extracellular matrix ; extracellular space ;
Biological process	extracellular matrix organization ; chondrocyte differentiation ; growth plate cartilage chondrocyte morphogenesis ; regulation of bone mineralization ; protein-containing complex assembly ;
	Sources:Amigo / QuickGO
Orthologs
	4146
	17180
	ENSG00000162510
	ENSMUSG00000040533
	P21941
	P51942
	NM_002379
	NM_010769
	NP_002370
	NP_034899
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated August 19, 2023

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

Related Research Articles

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.

Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene.

Laminin subunit alpha-1 is a protein that in humans is encoded by the LAMA1 gene.

Collagen alpha-2(VI) chain is a protein that in humans is encoded by the COL6A2 gene.

<span class="mw-page-title-main">ADAMTS1</span> Protein-coding gene in the species Homo sapiens

A disintegrin and metalloproteinase with thrombospondin motifs 1 is an enzyme that in humans is encoded by the ADAMTS1 gene.

Calcium/calmodulin-dependent protein kinase type 1 is an enzyme that in humans is encoded by the CAMK1 gene.

Matrix metalloproteinase-19 (MMP-19) also known as matrix metalloproteinase RASI is an enzyme that in humans is encoded by the MMP19 gene.

Eukaryotic translation initiation factor 2 subunit 2 (eIF2β) is a protein that in humans is encoded by the EIF2S2 gene.

Fibulin-2 is a protein that in humans is encoded by the FBLN2 gene.

Metalloproteinase inhibitor 4 is an enzyme that in humans is encoded by the TIMP4 gene.

Microfibrillar-associated protein 2 is a protein that in humans is encoded by the MFAP2 gene.

Matrilin-3 is a protein that in humans is encoded by the MATN3 gene. It is linked to the development of many types of cartilage, and part of the Matrilin family, which includes Matrilin-1, Matrilin-2, Matrilin-3, and Matrilin-4, a family of filamentous-forming adapter oligomeric extracellular proteins that are linked to the formation of cartilage and bone, as well as maintaining homeostasis after development. It is considered an extracellular matrix protein that functions as an adapter protein where the Matrilin-3 subunit can form both homo-tetramers and hetero-oligomers with subunits from Matrilin-1 which is the cartilage matrix protein. This restricted tissue has been strongly expressed in growing skeletal tissue as well as cartilage and bone.

cAMP-dependent protein kinase catalytic subunit gamma is an enzyme that in humans is encoded by the PRKACG gene.

Zinc finger and BTB domain-containing protein 7A is a protein that in humans is encoded by the ZBTB7A gene.

Hyaluronan synthase 3 is an enzyme that in humans is encoded by the HAS3 gene.

Matrix metalloproteinase-25 is an enzyme that in humans is encoded by the MMP25 gene.

Collagen alpha-1(XIX) chain is a protein that in humans is encoded by the COL19A1 gene.

Matrilin-2 is a matrilin protein that in humans is encoded by the MATN2 gene.

Zinc finger protein 7 is a protein that in humans is encoded by the ZNF7 gene.

Neutrophil collagenase, also known as matrix metalloproteinase-8 (MMP-8) or PMNL collagenase (MNL-CL), is a collagen cleaving enzyme which is present in the connective tissue of most mammals. In humans, the MMP-8 protein is encoded by the MMP8 gene. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the enzyme encoded by this gene is stored in secondary granules within neutrophils and is activated by autolytic cleavage.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000162510 - Ensembl, May 2017
1 2 3 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.
1 2 "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.

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.

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

This page is based on this Wikipedia article
Text is available under the CC BY-SA 4.0 license; additional terms may apply.
Images, videos and audio are available under their respective licenses.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000162510 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[entrez-5] 1 2 "Entrez Gene: MATN1 matrilin 1, cartilage matrix protein".

[pmid2246248-6] 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. doi: 10.1016/S0021-9258(17)45417-2 . PMID 2246248.

[pmid9083061-7] 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.

[pmid17176459-8] 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.

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]

Matrilin-1

Contents

Function

Related Research Articles

References

Further reading