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Aliases for MATN1 Gene

Aliases for MATN1 Gene

  • Matrilin 1, Cartilage Matrix Protein 2 3 5
  • CRTM 3 4
  • CMP 3 4
  • 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 Relapsing Polychondritis and Osteoarthritis. Among its related pathways are ECM proteoglycans and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is MATN4.

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

Additional gene information for MATN1 Gene

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

Genomics for MATN1 Gene

Regulatory Elements for MATN1 Gene

Enhancers for MATN1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H030737 2 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -27.7 -27681 28 HDGF PKNOX1 ARNT SIN3A YY1 ZNF766 CBX5 ZNF302 ZNF416 ZNF143 SNRNP40 ENSG00000229447 LAPTM5 LOC400748 ENSG00000236335 MATN1 MATN1-AS1 PUM1 SDC3 LOC105378620
GH01H030768 1.7 FANTOM5 ENCODE dbSUPER 12.7 -45.6 -45558 2.3 HDGF PKNOX1 ARNT YBX1 ZNF766 CBX5 FOS REST SMARCB1 ZNF592 SNRNP40 MATN1-AS1 ENSG00000229447 MATN1 PUM1 LAPTM5 LOC105378621
GH01H030765 1.5 FANTOM5 ENCODE dbSUPER 12.7 -42.6 -42617 0.6 HDGF PTBP1 NFRKB ZNF766 EGR1 ZNF143 RUNX3 CREM SMARCA5 CBFB MATN1 MATN1-AS1 PUM1 SNRNP40 ENSG00000229447 LAPTM5 LOC105378621
GH01H030801 1.5 Ensembl ENCODE dbSUPER 11.3 -78.3 -78324 0.9 ATF1 GLIS2 CBX5 ZNF143 ATF7 YY2 TSHZ1 REST ZNF662 ZNF623 ENSG00000229447 SNRNP40 PUM1 LOC105378626 SDC3 LAPTM5 LOC400748 MATN1 MATN1-AS1 ADGRB2
GH01H030782 1.4 Ensembl ENCODE dbSUPER 12 -59.7 -59692 2.1 HDGF PKNOX1 RB1 THRB RAD21 YY1 ZNF143 CREM SMARCA5 ZNF654 MATN1 MATN1-AS1 SDC3 LOC105378621 GC01P030805
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MATN1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MATN1 Gene

Genomic Locations for MATN1 Gene
12,311 bases
Minus strand

Genomic View for MATN1 Gene

Genes around MATN1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MATN1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for MATN1 Gene

  • Glycosylation at posLast=7676
  • Modification sites at PhosphoSitePlus

Other Protein References for MATN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MATN1 Gene

Domains & Families for MATN1 Gene

Gene Families for MATN1 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MATN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for MATN1 Gene

Gene Ontology (GO) - Molecular Function for MATN1 Gene

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

Animal Models for MATN1 Gene

MGI Knock Outs for MATN1:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MATN1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 1
lysosome 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,TAS --
genes like me logo Genes that share ontologies with MATN1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MATN1 Gene

Pathways & Interactions 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: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

No data available for SIGNOR curated interactions for MATN1 Gene

Drugs & Compounds for MATN1 Gene

(2) Drugs for MATN1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for MATN1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MATN1: view

Transcripts for MATN1 Gene

mRNA/cDNA for MATN1 Gene

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

Unigene Clusters for MATN1 Gene

Matrilin 1, cartilage matrix protein:
Representative Sequences:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for MATN1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MATN1 Gene

This gene is overexpressed in Fetal heart (25.8), Adipocyte (25.4), Breast (9.3), and Testis (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MATN1 Gene

Protein tissue co-expression partners for MATN1 Gene

NURSA nuclear receptor signaling pathways regulating expression of MATN1 Gene:


SOURCE GeneReport for Unigene cluster for MATN1 Gene:

genes like me logo Genes that share expression patterns with MATN1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 98.53 (n)
(Bos Taurus)
Mammalia MATN1 33 34
  • 90.32 (n)
(Mus musculus)
Mammalia Matn1 33 16 34
  • 86.98 (n)
(Rattus norvegicus)
Mammalia Matn1 33
  • 86.69 (n)
(Canis familiaris)
Mammalia MATN1 33 34
  • 86.38 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
-- 34
  • 82 (a)
(Monodelphis domestica)
Mammalia MATN1 34
  • 67 (a)
(Gallus gallus)
Aves MATN1 33 34
  • 74.73 (n)
(Anolis carolinensis)
Reptilia MATN1 34
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia matn1 33
  • 68.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64509 33
(Danio rerio)
Actinopterygii matn1 33 34
  • 72.56 (n)
Dr.21066 33
(Caenorhabditis elegans)
Secernentea mup-4 34
  • 7 (a)
Species where no ortholog for MATN1 was found in the sources mined by GeneCards:
  • 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

(5) 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
rs1000109348 -- 30,720,489(+) AGCAA(C/G)TTGCT intron-variant
rs1000258559 -- 30,715,747(+) TTTTG(C/T)CATTG intron-variant
rs1000978765 -- 30,719,249(+) GCCTT(C/T)CCCTC intron-variant, nc-transcript-variant
rs1001180956 -- 30,717,542(+) CATGT(A/G)TAGGT intron-variant, upstream-variant-2KB
rs1001262870 -- 30,717,247(+) ACAGC(A/T)CCTAT intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv145n100 CNV gain 25217958
nsv460995 CNV gain 19166990
nsv509124 CNV insertion 20534489
nsv545947 CNV gain 21841781

Variation tolerance for MATN1 Gene

Residual Variation Intolerance Score: 64.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.07; 37.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MATN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MATN1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MATN1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
relapsing polychondritis
  • chondromalacia, systemic
  • arthropathy
idiopathic scoliosis
  • scoliosis idiopathic
achondrogenesis, type ii or hypochondrogenesis
  • hypochondrogenesis
- elite association - COSMIC cancer census association via MalaCards
Search MATN1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MATN1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MATN1: view

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

Publications for MATN1 Gene

  1. Structure and chromosomal location of the human gene encoding cartilage matrix protein. (PMID: 2246248) Jenkins RN … Duby AD (The Journal of biological chemistry 1990) 2 3 4 22 60
  2. Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population. (PMID: 18985072) Chen Z … Qiu Y (European journal of human genetics : EJHG 2009) 3 22 45 60
  3. [Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis]. (PMID: 20092731) Chen ZJ … Zhu ZZ (Zhonghua wai ke za zhi [Chinese journal of surgery] 2009) 3 22 45 60
  4. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. (PMID: 17176459) Montanaro L … Arciola CR (Scoliosis 2006) 3 22 45 60
  5. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PMID: 15075323) Mann HH … Wagener R (The Journal of biological chemistry 2004) 3 4 22 60

Products for MATN1 Gene

Sources for MATN1 Gene

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