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FLASH GENE
Symbol COL10A1 contributors: mct - updated : 12-11-2012
HGNC name collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia)
HGNC id 2185
Corresponding disease
CDMS chondrodysplasia metaphyseal, Schmid type
SMD1 spondylo metaphyseal dysplasia 1
Location 6q22.1      Physical location : 116.440.085 - 116.447.296
Synonym name
  • collagen, type X, alpha 1
  • collagen alpha-1
    • DNA
    TYPE functioning gene
    STRUCTURE 7.21 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    Binding site   enhancer
    text structure
  • COL10A1 promoter activity was enhanced by RUNX2 alone and more potently by RUNX2 in combination with the coactivator core-binding factor beta, the HY box
  • altered methylation levels at 2 CpG sites of COL10A1 in mesenchymal stem cells and their demethylation during chondrogenesis may facilitate induction of COL10A1
    • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 3307 - 680 - 2007 17072841
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Connectivecartilage   
    cells
    SystemCellPubmedSpeciesStageRna symbol
     chondrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal noncollagenous domain NC2 (38 amino acids)
  • a triple helix (463 AAs)
  • a GLy-X-Y repeat sequence interspersed by small interruptions and with a non helical NC1 domain (161 AAs) in the C- terminus containing a conserved 13 AA aromatic motif critical for the interaction with other NC1 motifs and initiating assembly
  • C1Q domain
    • mono polymer homomer , trimer
    HOMOLOGY
    interspecies ortholog to murine Col10a1
    Homologene
    FAMILY collagen family
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text extracellular matrix
    basic FUNCTION
  • involved in endochondral ossification deposited in the hypertrophic zone of the growth plate)
  • its downregulation seems to have a role in the establishment of a defective and/or unstable subchondral cartilage matrix in osteoarthritis
  • VEGFA and extracellular collagen matrix (FRK/COL10A1) pathways contribute to the development of advanced age-related macular degeneration
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , ossification
    text later stages of endochondral bone formation
    PATHWAY
    metabolism
    signaling
    a component
  • GADD45B enhances COL10A1 transcription via the MTK1/MKK3/6/MAPK14 axis and activation of CEBPB-TAD4 in terminally differentiating chondrocytes
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DDR2 extracellular domain with high affinity and stimulated DDR2 autophosphorylation, the first step in transmembrane signaling
  • GADD45B enhances activity of the proximal COL10A1 promoter, which contains evolutionarily conserved AP-1, cAMP-response element, and CEBP half-sites, in synergism with CEBP family members
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDMS , SMD1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    significantly reduced in patients with osteoarthritis
    Susceptibility
  • advanced age-related macular degeneration
    • Variant & Polymorphism other
  • rs1999930 near FRK/COL10A1 associated with advanced age-related macular degeneration
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    novel target for the diagnosis and treatment of diverse solid tumor types
    immunologyautoimmunearticular
    therapeutic targets for multiple skeletal disorders, including osteoarthritis, that show abnormal COL10A1 expression and altered chondrocyte maturation
    ANIMAL & CELL MODELS