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MATN1 Gene

protein-coding   GIFtS: 57
GCID: GC01M031184

Matrilin 1, Cartilage Matrix Protein


(Previous symbols: CRTM, CMP)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Matrilin 1, Cartilage Matrix Protein1 2
CMP1 2 3 5
CRTM1 2 3 5
Cartilage Matrix Protein2
Matrilin-13

External Ids:    HGNC: 69071   Entrez Gene: 41462   Ensembl: ENSG000001625107   OMIM: 1154375   UniProtKB: P219413   

Export aliases for MATN1 gene to outside databases

Previous GC identifers: GC01M030980 GC01M030170 GC01M030612 GC01M030688 GC01M030855 GC01M029288


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is VWA1.

UniProtKB/Swiss-Prot: MATN1_HUMAN, P21941
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the MATN1 gene promoter:
         AML1a   RelA   AP-4   HEN1   IRF-2   NRF-2   CP2   Zic1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MATN1 promoter sequence
   Search Chromatin IP Primers for MATN1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MATN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p35   Ensembl cytogenetic band:  1p35.2   HGNC cytogenetic band: 1p35

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M031184:  view genomic region     (about GC identifiers)

Start:
31,184,124 bp from pter      End:
31,196,434 bp from pter
Size:
12,311 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MATN1_HUMAN, P21941 (See protein sequence)
Recommended Name: Cartilage matrix protein precursor  
Size: 496 amino acids; 53701 Da
Subunit: Homotrimer. Interacts with COMP
Secondary accessions: B2R7E3 Q5TBB9

Explore the universe of human proteins at neXtProt for MATN1: NX_P21941

Explore proteomics data for MATN1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn76
  • Modification sites at PhosphoSitePlus

  • See MATN1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002370.1  
    ENSEMBL proteins: 
     ENSP00000362870  
    Reactome Protein details: P21941

    MATN1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for MATN1
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    Novus Biologicals MATN1 Proteins
    Novus Biologicals MATN1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MATN1

    MATN1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MATN1
    R&D Systems Antibodies for MATN1 (Matrilin-1)
    OriGene Antibodies for MATN1
    OriGene Custom Antibody Services for MATN1
    Novus Biologicals MATN1 Antibodies
    Abcam antibodies for MATN1
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    LSBio Antibodies in human, mouse, rat for MATN1

    MATN1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for MATN1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MATN1
    Cloud-Clone Corp. CLIAs for MATN1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR019466 Matrilin_coiled-coil_trimer
     IPR013032 EGF-like_CS
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry P21941

    ProtoNet protein and cluster: P21941

    2 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: MATN1_HUMAN, P21941
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 2 VWFA domains


    MATN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MATN1_HUMAN, P21941
    Function: Cartilage matrix protein is a major component of the extracellular matrix of non-articular cartilage. It
    binds to collagen

         Genatlas biochemistry entry for MATN1:
    matrilin 1,cartilage matrix protein

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS9083061
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI15075323
         
    MATN1 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Matn1):
     no phenotypic analysis  skeleton 

    MATN1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for MATN1: Matn1tm1Goe Matn1tm1Ref

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MATN1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MATN1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MATN1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MATN1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MATN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MATN1 (see all 36):
    hsa-miR-548j hsa-miR-100* hsa-miR-136 hsa-miR-513a-5p hsa-miR-342-3p hsa-miR-29b-1* hsa-miR-3613-3p hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidMATN1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MATN1
    Predesigned siRNA for gene silencing in human, mouse, rat MATN1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MATN1

    Clone
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    OriGene clones in human, mouse for MATN1 (see all 5)
    OriGene ORF clones in mouse, rat for MATN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MATN1 (NM_002379)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for MATN1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MATN1_HUMAN, P21941: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane2
    cytosol1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--

    MATN1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for MATN1 About    
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    2ECM proteoglycans
    ECM proteoglycans

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for MATN1
        ECM proteoglycans



    MATN1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MATN1
    Interactions:

        GeneGlobe Interaction Network for MATN1

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    Selected Interacting proteins for MATN1 (P219413 ENSP000003628704) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGA1P561993, ENSP000002825884I2D: score=2 STRING: ENSP00000282588
    MATN2O003393, ENSP000002548984I2D: score=2 STRING: ENSP00000254898
    MATN4O954603, ENSP000003431644I2D: score=2 STRING: ENSP00000343164
    COL2A1P024583, ENSP000003698894I2D: score=1 STRING: ENSP00000369889
    MATN3O152323, ENSP000003838944I2D: score=2 STRING: ENSP00000383894
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002062chondrocyte differentiation ----
    GO:0003429growth plate cartilage chondrocyte morphogenesis IEA--
    GO:0006461protein complex assembly TAS9083061
    GO:0030198extracellular matrix organization TAS--
    GO:0030500regulation of bone mineralization IEA--

    MATN1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MATN1

    7 Novoseek inferred chemical compound relationships for MATN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    jararhagin 71.6 1 17040908 (1)
    procollagen 42.3 2 16641179 (1), 16595439 (1)
    glycosaminoglycan 36.8 1 18990440 (1)
    alginate 32.7 1 11398865 (1)
    retinoic acid 8.02 3 8163572 (1), 15063719 (1), 7897636 (1)
    nitric oxide 0 2 12563690 (1)
    calcium 0 1 15075323 (1)



    MATN1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MATN1 gene: 
    NM_002379.3  

    Unigene Cluster for MATN1:

    Matrilin 1, cartilage matrix protein
    Hs.150366  [show with all ESTs]
    Unigene Representative Sequence: NM_002379
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373765(uc001brz.3) ENST00000494561 ENST00000477320
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MATN1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MATN1 (see all 36):
    hsa-miR-548j hsa-miR-100* hsa-miR-136 hsa-miR-513a-5p hsa-miR-342-3p hsa-miR-29b-1* hsa-miR-3613-3p hsa-miR-548d-5p
    SwitchGear 3'UTR luciferase reporter plasmidMATN1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MATN1
    Predesigned siRNA for gene silencing in human, mouse, rat MATN1
    Clone
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    OriGene clones in human, mouse for MATN1 (see all 5)
    OriGene ORF clones in mouse, rat for MATN1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MATN1 (NM_002379)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MATN1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MATN1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MATN1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MATN1
      QuantiTect SYBR Green Assays in human, mouse, rat MATN1
      QuantiFast Probe-based Assays in human, mouse, rat MATN1

    Additional mRNA sequence: 

    AK075519.1 AK312949.1 BC131710.1 M55683.1 

    9 DOTS entries:

    DT.408585  DT.121461744  DT.97815413  DT.121461749  DT.121461733  DT.121461748  DT.121461759  DT.97771646 
    DT.95265758 

    3 AceView cDNA sequences:

    BC017506 H27362 BF304162 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MATN1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAGAGCA
    MATN1 Expression
    About this image


    MATN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 13 entries
             Prehypertrophic Chondrocytes Rostral Endochondral Facial Bones
             Zeugopod Long Bone
     
     Cartilage (Muscoskeletal System)    fully expand to see all 10 entries
             Chondrocytes Synchondroses
             Meckel's Cartilage
     
     Limb (Muscoskeletal System)    fully expand to see all 5 entries
             Interzone Cells Stylopod Synovial Joint
             Pelvic Girdle
     
     Head Mesenchyme (Muscoskeletal System)
             Chondrocytes Branchial Arch 2
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    MATN1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MATN1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.150366
        Custom PCR Arrays for MATN1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MATN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MATN1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Matn11 , 5 matrilin 1, cartilage matrix protein1, 5 86.98(n)1
    91.93(a)1
      4 (64.09 cM)5
    171801  NM_010769.21  NP_034899.21 
     1309443855 
    chicken
    (Gallus gallus)
    Aves MATN11 matrilin 1, cartilage matrix protein 74.73(n)
    79.41(a)
      396505  NM_001030375.2  NP_001025546.2 
    lizard
    (Anolis carolinensis)
    Reptilia MATN16
    matrilin 1, cartilage matrix protein
    74(a)
    1 ↔ 1
    GL343563.1(65963-75014)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC645092 hypothetical protein MGC64509 74.03(n)    BC054272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.210662 Danio rerio, similar to cartilage matrix protein, clone more 79.9(n)    BC045465.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mup-46
    Protein MUP-4 (mup-4) mRNA, complete cds
    7(a)
    1 → many
    III(7479681-7489075) WBGene00003497


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MATN1 gene
    VWA12  MATN42  COL14A12  MATN32  MATN22  VIT2  COL12A12  COCH2  
    COL20A12  VWA22  
    5 SIMAP similar genes for MATN1 using alignment to 2 protein entries:     MATN1_HUMAN (see all proteins):
    MATN3    MATN2    COL21A1    MATN4    COL6A5

    MATN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MATN1 (see all 376)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1480066481,2
    C--29290508(+) CACAC-/ATGCACA 1 -- ut310--------
    rs75518651,2
    A--29294761(+) tttttG/Tttttg 1 -- int10--------
    rs1485177701,2
    C--29294763(+) TTGTT-/GTTGTT 1 -- int10--------
    rs75518671,2
    C,A--29294766(+) gttttG/Tttttt 1 -- int10--------
    rs1860733511,2
    --29294771(+) GTTTTG/TTTTTT 1 -- int10--------
    rs105539971,2
    C--29297276(+) GTGAC-/TATTCGC 1 -- int10--------
    rs349376441,2
    C--31185552(+) ACCAT-/CCCCCC 1 -- ut311Minor allele frequency- C:0.00NA 2
    rs345667391,2
    C--31186094(+) AAAAA-/AGATGG 1 -- ut310--------
    rs105315311,2
    C--31186225(+) ACGTGCA/-CACAC 1 -- ut311Minor allele frequency- -:0.50CSA 2
    rs61431771,2
    C--31194827(+) CTGGC-/CTTGG 
    GCCATTTG
    CTTCA
    1 -- int10--------

    HapMap Linkage Disequilibrium report for MATN1 (31184124 - 31196434 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MATN1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509124CNV Insertion20534489
    nsv871304CNV Loss21882294
    nsv460995CNV Gain19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MATN1
    DNA2.0 Custom Variant and Variant Library Synthesis for MATN1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 115437    OMIM disorders: --

    16 diseases for MATN1:    
    About MalaCards
    tufting enteropathy    relapsing polychondritis    pseudoachondroplasia    epidermolysis bullosa acquisita
    chondrodysplasia    multiple epiphyseal dysplasia    epidermolysis bullosa    synovitis
    skeletal dysplasias    dwarfism    osteoarthritis    conduct disorder
    chondrosarcoma    arthritis    rheumatoid arthritis    thyroiditis

    2 diseases from the University of Copenhagen DISEASES database for MATN1:
    Relapsing polychondritis     Osteoarthritis

    MATN1 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for MATN1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chondritis 71.2 1 14982849 (1)
    polychondritis relapsing 69.3 5 10765942 (1), 11665983 (1), 7848324 (1), 12223103 (1) (see all 5)
    osteoarthritis 58.7 5 8000735 (1), 8184625 (1), 8731395 (1), 9706207 (1) (see all 5)
    collagen fibril 56.8 1 1600245 (1)
    epidermolysis bullosa acquisita 52.6 1 17525268 (1)
    hypertrophy 25.2 1 7589809 (1)
    synovitis 20.1 2 9706207 (2)
    arthritis 17.9 1 12653864 (1)
    autoimmune diseases 0 1 12223103 (1)

    Genetic Association Database (GAD): MATN1
    Human Genome Epidemiology (HuGE) Navigator: MATN1 (8 documents)

    Export disorders for MATN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MATN1 gene, integrated from 10 sources (see all 118):
    (articles sorted by number of sources associating them with MATN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and chromosomal location of the human gene encoding cartilage matrix protein. (PubMed id 2246248)1, 2, 3, 9 Jenkins R.N.... Duby A.D. (J. Biol. Chem. 1990)
    2. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. (PubMed id 17176459)1, 4, 9 Montanaro L....Arciola C.R. (Scoliosis 2006)
    3. Association analysis of genotypic frequencies of matrilin-1 gene in patients with osteoarthritis. (PubMed id 12175111)1, 4, 9 Strusberg I....Barral J.M. (Clin. Exp. Rheumatol. 2002)
    4. Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population. (PubMed id 18985072)1, 4, 9 Chen Z....Qiu Y. (Eur. J. Hum. Genet. 2009)
    5. [Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis]. (PubMed id 20092731)1, 4, 9 Chen Z.J....Zhu Z.Z. (Zhonghua Wai Ke Za Zhi 2009)
    6. Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A- like module superfamily. (PubMed id 9083061)1, 3, 9 Deak F.... Kiss I. (J. Biol. Chem. 1997)
    7. Interactions between the cartilage oligomeric matrix protein and matrilins. Implications for matrix assembly and the pathogenesis of chondrodysplasias. (PubMed id 15075323)1, 2, 9 Mann H.H.... Wagener R. (J. Biol. Chem. 2004)
    8. Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans. (PubMed id 20739701)1, 4 Jang J.Y....Kwon T.G. (J. Dent. Res. 2010)
    9. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4146 HGNC: 6907 AceView: MATN1.1 Ensembl:ENSG00000162510 euGenes: HUgn4146
    ECgene: MATN1 H-InvDB: MATN1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MATN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MATN1 gene:
    Search GeneIP for patents involving MATN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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