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FLASH GENE
Symbol MATN1 contributors: mct - updated : 30-03-2011
HGNC name matrilin 1, cartilage matrix protein
HGNC id 6907
Location 1p35.2      Physical location : 31.184.125 - 31.196.432
Synonym symbol(s) CMP, CRTM, CAMA
DNA
TYPE functioning gene
STRUCTURE 12.31 kb     8 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D1S449 - D1S247 - MATN1 - D1S255 - D1S496 - D1S2783 - D1S443 - D1S2733 - D1S193 - cen
Authors White (99)
Physical map
LOC90719 1p35.2 similar to KIAA1913 SFRS4 1p35.1-p34.3 splicing factor, arginine/serine-rich 4 CGI-63 1pter-p22.3 nuclear receptor binding factor 1 PTPRU 1pter-p35 protein tyrosine phosphatase, receptor type, U LOC391025 1 similar to protein tyrosine phosphatase, receptor type, U isoform 2 precursor; protein tyrosine phosphatase J; protein tyrosine phosphatase receptor omicron; pi R-PTP-Psi LOC388614 1 LOC388614 LOC388615 1 LOC388615 MATN1 1p35.1-p34.3 matrilin 1, cartilage matrix protein LAPTM5 1p34 matrilin 1, cartilage matrix protein LOC388616 1 LOC388616 SDC3 1pter-p22.3 syndecan 3 (N-syndecan) PUM1 1p35.2 pumilio homolog 1 (Drosophila) SEPW1P 1p34-p35 selenoprotein W, 1 pseudogene FLJ12650 1p35.1 hypothetical protein FLJ12650 HPRP8BP 1p35.1 U5 snRNP-specific 40 kDa protein (hPrp8-binding) PS1D 1p35.1 putative S1 RNA binding domain protein FABP3 1p33-p32 fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) TDE2L 1p35.1 tumor differentially expressed 2-like LOC127572 1p35.1 similar to elongation factor 1 alpha LOC149086 1p35.1 hypothetical protein LOC149086 LCN7 1p34.3 lipocalin 7 HCRTR1 1p33 hypocretin (orexin) receptor 1 PEF 1p34 hypocretin (orexin) receptor 1 COL16A1 1p34.3 collagen, type XVI, alpha 1 BAI2 1p35 brain-specific angiogenesis inhibitor 2 FLJ25348 1p35.1 hypothetical protein FLJ25348 PTP4A2 1p36 protein tyrosine phosphatase type IVA, member 2 KHDRBS1 1p32 KH domain containing, RNA binding, signal transduction associated 1 FLJ10315 1p34.3 hypothetical protein FLJ10315 KPNA6 1p35-p34.1 karyopherin alpha 6 (importin alpha 7) DKFZp451J0118 1p34.3 taxilin
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 3830 - 496 - 2002 11896063
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebone   
Connectivecartilage  predominantly Homo sapiens
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two von Willebrand A-like modules (M1A1 and M1A2), possessing metal ion-dependent adhesion site (MIDAS) motifs
  • a small EGF-like region
  • one coiled-coil domain
  • mono polymer homomer , heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Matn1
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text
  • extracellular matrix
  • primarily expressed in the maturation zone of the cartilage growth plate
  • basic FUNCTION
  • involved in the formation of filamentous networks in the extracellular matrices of various tissues (bone formation)
  • mediate cell attachment, but the binding is clearly dose dependent and seen already at moderate coating concentrations
  • oligomeric extracellular matrix adaptor proteins mediating interactions between collagen fibrils and other matrix constituents
  • MATN1 and MATN3 modulate collagen fibrillogenesis in cartilage and provide evidence that biochemical compensation might exist between matrilins
  • function for MATN1 and MATN3 to maintain and enhance chondrogenesis of mesenchymal fibroblasts initiated by TGF-beta
  • possible roles for MATN1/MATN3 hetero-oligomers could be to further bring this collagen type II and IX integrated meshwork together by increasing their affinities to interact with the extracellular matrix
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS ossification
    PATHWAY
    metabolism
    signaling
    a component
  • oligomeric extracellular matrix protein (hetrotrimerizing with MATN2 and MATN4)
  • major constituents of the cartilage proteoglycan mixture
  • form disulfide-bonded oligomers with matrilin-3
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    induced by during chondrogenesis
    Other regulated by extracellular signal-regulated protein kinase, protein kinase C, and p38 kinase, signaling molecules known to regulate chondrogenesis
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to mandibular prognathism
  • familial idiopathic scoliosis
  • Variant & Polymorphism other
  • three microsatellite polymorphisms, associated to risk of familial idiopathic scoliosis
  • Candidate gene
    Marker
  • polymorphisms in Matrilin-1 could be used as a marker for genetic susceptibility
  • Therapy target
    ANIMAL & CELL MODELS
  • mice lacking both matrilin-1 and matrilin-3 develop an apparently normal skeleton, but exhibit biochemical and ultrastructural abnormalities of the knee joint cartilage