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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 Tufting Enteropathy and Scoliosis. 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

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

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
- Elite enhancer/Elite enhancer-gene association

Enhancers around MATN1 on UCSC Golden Path with GeneCards custom track

Genomic Location for MATN1 Gene

Chromosome:
1
Start:
30,711,277 bp from pter
End:
30,723,587 bp from pter
Size:
12,311 bases
Orientation:
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:
    P21941-MATN1_HUMAN
    Recommended name:
    Cartilage matrix protein
    Protein Accession:
    P21941
    Secondary Accessions:
    • B2R7E3
    • Q5TBB9

    Protein attributes for MATN1 Gene

    Size:
    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 Asn 76
  • Modification sites at PhosphoSitePlus

Other Protein References for MATN1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MATN1 Gene

Domains & Families for MATN1 Gene

Suggested Antigen Peptide Sequences for MATN1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P21941

UniProtKB/Swiss-Prot:

MATN1_HUMAN :
  • Contains 1 EGF-like domain.
Domain:
  • 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 IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IEA,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

Clone Products

Flow Cytometry 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

COMPARTMENTS
Jensen Localization Image for MATN1 Gene COMPARTMENTS Subcellular localization image for MATN1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
vacuole 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 & 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for MATN1 Gene

GeneLoc Exon Structure for
MATN1
ECgene alternative splicing isoforms for
MATN1

Expression for MATN1 Gene

mRNA expression in normal human tissues 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:

MATN1

SOURCE GeneReport for Unigene cluster for MATN1 Gene:

Hs.150366
genes like me logo Genes that share expression patterns with MATN1: view

Primer Products

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
cow
(Bos Taurus)
Mammalia MATN1 34
  • 90.32 (n)
  • 92.34 (a)
MATN1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MATN1 34
  • 86.38 (n)
  • 89.13 (a)
MATN1 35
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Matn1 34
  • 86.98 (n)
  • 91.93 (a)
Matn1 16
Matn1 35
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MATN1 34
  • 98.53 (n)
  • 98.45 (a)
MATN1 35
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Matn1 34
  • 86.69 (n)
  • 91.93 (a)
oppossum
(Monodelphis domestica)
Mammalia MATN1 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 86 (a)
OneToMany
-- 35
  • 82 (a)
OneToMany
chicken
(Gallus gallus)
Aves MATN1 34
  • 74.73 (n)
  • 79.41 (a)
MATN1 35
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MATN1 35
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia matn1 34
  • 68.76 (n)
  • 76.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC64509 34
zebrafish
(Danio rerio)
Actinopterygii Dr.21066 34
matn1 34
  • 72.56 (n)
  • 72.71 (a)
matn1 35
  • 67 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mup-4 35
  • 7 (a)
OneToMany
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

ENSEMBL:
Gene Tree for MATN1 (if available)
TreeFam:
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
rs1061169 -- 30,713,254(-) CCCAT(A/C)TTTTT utr-variant-3-prime
rs1065755 -- 30,715,242(-) TCAGA(A/G)CCTGT reference, synonymous-codon
rs1188394 -- 30,711,371(-) CTCCC(G/T)AGGGC utr-variant-3-prime
rs1188395 -- 30,711,521(-) TCTTT(C/T)AATCC utr-variant-3-prime
rs1188396 -- 30,711,682(-) GCTGG(C/T)GGGCA utr-variant-3-prime

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
MATN1

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

Disorders for MATN1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MATN1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
tufting enteropathy
  • ied
scoliosis
achondrogenesis, type ii or hypochondrogenesis
  • achondrogenesis, type ii
- 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)
MATN1
Human Genome Epidemiology (HuGE) Navigator
MATN1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MATN1
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 R.N. … Duby A.D. (J. Biol. Chem. 1990) 2 3 4 22 65
  2. Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population. (PMID: 18985072) Chen Z. … Qiu Y. (Eur. J. Hum. Genet. 2009) 3 22 46 65
  3. [Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis]. (PMID: 20092731) Chen Z.J. … Zhu Z.Z. (Zhonghua Wai Ke Za Zhi 2009) 3 22 46 65
  4. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. (PMID: 17176459) Montanaro L. … Arciola C.R. (Scoliosis 2006) 3 22 46 65
  5. 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 22 65

Products for MATN1 Gene

Sources for MATN1 Gene

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