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Aliases for MATN1 Gene

Aliases for MATN1 Gene

  • Matrilin 1 2 3
  • 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) is a Protein Coding gene. Diseases associated with MATN1 include Relapsing Polychondritis and Idiopathic Scoliosis. Among its related pathways are ECM proteoglycans and Degradation of the extracellular matrix. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for MATN1 Gene

Promoters and enhancers for MATN1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J030723 Promoter/Enhancer 0.7 EPDnew dbSUPER 650.7 0.0 -18 0.1 GC01P030723 MATN1 MATN1-AS1 MIR4420
GH01J030721 Enhancer 0.5 dbSUPER 650.7 +1.6 1613 0.9 LCORL NFIC NFIB ZBTB33 GC01P030723 MATN1 MATN1-AS1
GH01J030737 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.8 -27.7 -27681 28 HDGF PKNOX1 SMAD1 ARNT IRF4 YY1 ZNF766 CBX5 ZNF416 ZNF207 LAPTM5 LOC105378620 SNRNP40 ENSG00000229447 LOC400748 ENSG00000236335 MATN1 MATN1-AS1 PUM1 SDC3
GH01J030823 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 10.8 -100.6 -100590 2.3 HDGF FOXA2 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 LINC01778 SNRNP40 SDC3 LOC400748 ENSG00000229447 COL16A1 MATN1 MATN1-AS1 ENSG00000235790 RN7SKP91
GH01J030909 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 11.3 -186.9 -186924 3 HDGF ARNT SIN3A ZNF2 GLIS2 ZNF213 ARID2 ZNF143 ATF7 KLF13 SDC3 LOC400748 MATN1 MATN1-AS1 RN7SL371P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MATN1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MATN1 gene promoter:
  • STAT3
  • IRF-2
  • AP-4
  • HEN1
  • AML1a
  • RelA
  • NRF-2
  • CP2
  • Zic1

Genomic Locations for MATN1 Gene

Genomic Locations for MATN1 Gene
12,311 bases
Minus strand
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

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

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 IEA,TAS --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MATN1

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 --
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:0030198 extracellular matrix organization TAS --
GO:0030500 regulation of bone mineralization IEA --
GO:0065003 protein-containing complex assembly TAS 9083061
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

(5) Drugs for MATN1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(1R)-4-(3-phenoxyphenyl)-1-phosphonobutane-1-sulfonic acid Experimental Pharma Target 0
tripotassium (1R)-4-biphenyl-4-yl-1-phosphonatobutane-1-sulfonate Experimental Pharma Target 0

(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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MATN1

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 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 34 33
  • 98.53 (n)
(Bos Taurus)
Mammalia MATN1 34 33
  • 90.32 (n)
(Mus musculus)
Mammalia Matn1 16 34 33
  • 86.98 (n)
(Rattus norvegicus)
Mammalia Matn1 33
  • 86.69 (n)
(Canis familiaris)
Mammalia MATN1 34 33
  • 86.38 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 86 (a)
-- 34
  • 82 (a)
(Monodelphis domestica)
Mammalia MATN1 34
  • 67 (a)
(Gallus gallus)
Aves MATN1 34 33
  • 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 34 33
  • 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)
Evolutionary constrained regions (ECRs) for MATN1: view image

Paralogs for MATN1 Gene

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 Variation AA Info Type
rs1000109348 -- 30,720,489(-) G/C intron_variant
rs1000258559 -- 30,715,747(-) T/C intron_variant
rs1000978765 -- 30,719,249(-) C/T intron_variant
rs1001180956 -- 30,717,542(-) G/A intron_variant
rs1001262870 -- 30,717,247(-) A/T intron_variant

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)

Additional Variant Information for MATN1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for MATN1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
relapsing polychondritis
  • chondromalacia, systemic
idiopathic scoliosis
  • scoliosis idiopathic
achondrogenesis, type ii
  • acg2
- elite association - COSMIC cancer census association via MalaCards
Search MATN1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MATN1

Genetic Association Database
Human Genome Epidemiology 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 58
  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 44 58
  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 44 58
  4. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. (PMID: 17176459) Montanaro L … Arciola CR (Scoliosis 2006) 3 22 44 58
  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 58

Products for MATN1 Gene

Sources for MATN1 Gene

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