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FLASH GENE
Symbol COL15A1 contributors: mct/npt - updated : 02-11-2006
HGNC name collagen, type XV, alpha 1
HGNC id 2192
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • fibril-associated collagens with interrupted helices (FACIT)
  • a N terminal thrombospondin domain
  • nine collagenous domains
  • a laminin G domain and O-tandem repeat structure in the C-terminal
  • conjugated GlycoP
    mono polymer homomer , trimer
    isoforms Precursor precursor of restin (a potent anti angiogenic protein) which is proteolytically processed by the C terminal fragment of COL XV
    HOMOLOGY
    interspecies ortholog to murine Col15a1
    intraspecies homolog to COL XVIII
    Homologene
    FAMILY
  • multiplexin collagen family
  • CATEGORY adhesion , structural protein
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix
    basic FUNCTION
  • adhesion of basement membrane to connective tissue stroma
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cardiovascular , development
    text anti-angiogenic by its C terminus (restin)
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in renal cell carcinoma (Morris 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Col15a1 deficient mice develop a skeletal myopathy and cardiovascular defects