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Aliases for MATN1 Gene

Aliases for MATN1 Gene

  • Matrilin 1, Cartilage Matrix Protein 2 3
  • CRTM 3 4 6
  • CMP 3 4 6
  • Cartilage Matrix Protein 3
  • Matrilin-1 4

External Ids for MATN1 Gene

Previous HGNC Symbols for MATN1 Gene

  • CRTM
  • CMP

Previous GeneCards Identifiers for MATN1 Gene

  • GC01M030980
  • GC01M030170
  • GC01M030612
  • GC01M030855
  • GC01M031184
  • GC01M029288

Summaries for MATN1 Gene

Entrez Gene Summary for MATN1 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MATN1 Gene

MATN1 (Matrilin 1, Cartilage Matrix Protein) is a Protein Coding gene. Diseases associated with MATN1 include tufting enteropathy and relapsing polychondritis. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is VIT.

UniProtKB/Swiss-Prot for MATN1 Gene

  • Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen

Gene Wiki entry for MATN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MATN1 Gene

Genomics for MATN1 Gene

Regulatory Elements for MATN1 Gene

Genomic Location for MATN1 Gene

30,711,277 bp from pter
30,723,587 bp from pter
12,311 bases
Minus strand

Genomic View for MATN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MATN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MATN1 Gene

Proteins for MATN1 Gene

  • Protein details for MATN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Cartilage matrix protein
    Protein Accession:
    Secondary Accessions:
    • B2R7E3
    • Q5TBB9

    Protein attributes for MATN1 Gene

    496 amino acids
    Molecular mass:
    53701 Da
    Quaternary structure:
    • Homotrimer. Interacts with COMP.

neXtProt entry for MATN1 Gene

Proteomics data for MATN1 Gene at MOPED

Post-translational modifications for MATN1 Gene

  • Glycosylation at Asn76
  • Modification sites at PhosphoSitePlus

Other Protein References for MATN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MATN1 Gene

Domains for MATN1 Gene

Suggested Antigen Peptide Sequences for MATN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • P21941
  • Contains 1 EGF-like domain.
  • Contains 2 VWFA domains.
genes like me logo Genes that share domains with MATN1: view

No data available for Gene Families for MATN1 Gene

Function for MATN1 Gene

Molecular function for MATN1 Gene

GENATLAS Biochemistry: matrilin 1,cartilage matrix protein
UniProtKB/Swiss-Prot Function: Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It binds to collagen

Gene Ontology (GO) - Molecular Function for MATN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 9083061
GO:0005509 calcium ion binding --
GO:0005515 protein binding IPI 15075323
genes like me logo Genes that share ontologies with MATN1: view

Phenotypes for MATN1 Gene

genes like me logo Genes that share phenotypes with MATN1: view

Animal Models for MATN1 Gene

MGI Knock Outs for MATN1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for MATN1 Gene

Localization for MATN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MATN1 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

Jensen Localization Image for MATN1 Gene COMPARTMENTS Subcellular localization image for MATN1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytosol 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MATN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
genes like me logo Genes that share ontologies with MATN1: view

Pathways for MATN1 Gene

genes like me logo Genes that share pathways with MATN1: view

Pathways by source for MATN1 Gene

2 Reactome pathways for MATN1 Gene

Gene Ontology (GO) - Biological Process for MATN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002062 chondrocyte differentiation --
GO:0003429 growth plate cartilage chondrocyte morphogenesis IEA --
GO:0006461 protein complex assembly TAS 9083061
GO:0030198 extracellular matrix organization TAS --
GO:0030500 regulation of bone mineralization IEA --
genes like me logo Genes that share ontologies with MATN1: view

Compounds for MATN1 Gene

(7) Novoseek inferred chemical compound relationships for MATN1 Gene

Compound -log(P) Hits PubMed IDs
jararhagin 71.6 1
procollagen 42.3 2
glycosaminoglycan 36.8 1
alginate 32.7 1
retinoic acid 8.02 3
genes like me logo Genes that share compounds with MATN1: view

Transcripts for MATN1 Gene

mRNA/cDNA for MATN1 Gene

(3) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MATN1 Gene

Matrilin 1, cartilage matrix protein:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MATN1 Gene

No ASD Table

Relevant External Links for MATN1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MATN1 Gene

mRNA expression in normal human tissues for MATN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for MATN1 Gene

SOURCE GeneReport for Unigene cluster for MATN1 Gene Hs.150366

genes like me logo Genes that share expressions with MATN1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MATN1 Gene

Orthologs for MATN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MATN1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MATN1 35
  • 98.53 (n)
  • 98.45 (a)
MATN1 36
  • 98 (a)
(Bos Taurus)
Mammalia MATN1 35
  • 90.32 (n)
  • 92.34 (a)
MATN1 36
  • 93 (a)
(Canis familiaris)
Mammalia MATN1 35
  • 86.38 (n)
  • 89.13 (a)
MATN1 36
  • 60 (a)
(Mus musculus)
Mammalia Matn1 35
  • 86.98 (n)
  • 91.93 (a)
Matn1 16
Matn1 36
  • 89 (a)
(Monodelphis domestica)
Mammalia MATN1 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
-- 36
  • 82 (a)
(Rattus norvegicus)
Mammalia Matn1 35
  • 86.69 (n)
  • 91.93 (a)
(Gallus gallus)
Aves MATN1 35
  • 74.73 (n)
  • 79.41 (a)
MATN1 36
  • 68 (a)
(Anolis carolinensis)
Reptilia MATN1 36
  • 74 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64509 35
tropical clawed frog
(Silurana tropicalis)
Amphibia matn1 35
  • 68.76 (n)
  • 76.79 (a)
(Danio rerio)
Actinopterygii Dr.21066 35
matn1 35
  • 72.56 (n)
  • 72.71 (a)
matn1 36
  • 67 (a)
(Caenorhabditis elegans)
Secernentea mup-4 36
  • 7 (a)
Species with no ortholog for MATN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MATN1 Gene

Gene Tree for MATN1 (if available)
Gene Tree for MATN1 (if available)

Paralogs for MATN1 Gene

Paralogs for MATN1 Gene

Selected SIMAP similar genes for MATN1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MATN1: view

Variants for MATN1 Gene

Sequence variations from dbSNP and Humsavar for MATN1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs20566 -- 30,716,054(+) GCCCC(A/G)GTCAT synonymous-codon, reference
rs1061169 -- 30,713,254(-) CCCAT(A/C)TTTTT utr-variant-3-prime
rs1065755 -- 30,715,242(-) TCAGA(A/G)CCTGT synonymous-codon, reference
rs1188394 -- 30,711,371(-) CTCCC(G/T)AGGGC utr-variant-3-prime
rs1188395 -- 30,711,521(-) TCTTT(C/T)AATCC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MATN1 Gene

Variant ID Type Subtype PubMed ID
nsv460995 CNV Gain 19166990
nsv871304 CNV Loss 21882294
nsv509124 CNV Insertion 20534489

Relevant External Links for MATN1 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MATN1 Gene

Disorders for MATN1 Gene

(2) University of Copenhagen DISEASES for MATN1 Gene

(9) Novoseek inferred disease relationships for MATN1 Gene

Disease -log(P) Hits PubMed IDs
chondritis 71.2 1
polychondritis relapsing 69.3 5
osteoarthritis 58.7 5
collagen fibril 56.8 1
epidermolysis bullosa acquisita 52.6 1

Relevant External Links for MATN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with MATN1: view

No data available for UniProtKB/Swiss-Prot for MATN1 Gene

Publications for MATN1 Gene

  1. Structure and chromosomal location of the human gene encoding cartilage matrix protein. (PMID: 2246248) Jenkins R.N. … Duby A.D. (J. Biol. Chem. 1990) 2 3 4 23
  2. Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A- like module superfamily. (PMID: 9083061) Deak F. … Kiss I. (J. Biol. Chem. 1997) 2 3 23
  3. Association analysis of genotypic frequencies of matrilin-1 gene in patients with osteoarthritis. (PMID: 12175111) Strusberg I. … Barral J.M. (Clin. Exp. Rheumatol. 2002) 3 23 48
  4. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PMID: 15075323) Mann H.H. … Wagener R. (J. Biol. Chem. 2004) 3 4 23
  5. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. (PMID: 17176459) Montanaro L. … Arciola C.R. (Scoliosis 2006) 3 23 48

Products for MATN1 Gene

Sources for MATN1 Gene

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