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; OMA:MATN1 - orthologs
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 130,671,696 bp[2] End 130,682,786 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cartilage tissue tibia trachea tendon of biceps brachii testicle internal globus pallidus gonad granulocyte bone marrow cervix Top expressed in occiput occipital bone splanchnocranium toe rib thyroid cartilage humerus sphenoid bone human fetus ilium More reference expression data BioGPS 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 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: 130.67 – 130.68 Mb PubMed search [3] [4]
Wikidata
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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]