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FLASH GENE
Symbol C1QTNF5 contributors: np/shn - updated : 28-04-2011
HGNC name C1q and tumor necrosis factor related protein 5
HGNC id 14344
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal collagen triple helix repeat (Gly-X-Y repeats)
  • a complement factor C1q globular domain at the C terminus
  • mono polymer homomer , octamer
    HOMOLOGY
    interspecies ortholog to c1qtnf5, Rattus norvegicus
    ortholog to C1qtnf5, Mus musculus
    ortholog to C1QTNF5, Pan trglodytes
    ortholog to c1qtnf5, Danio rerio
    Homologene
    FAMILY
  • C1q tumor necrosis factor superfamily
  • CATEGORY regulatory , secretory , receptor
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • having transmembrane receptor activity, and involved in development
  • circulate in the blood and is potential endocrine hormone
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interact with the membrane-type frizzled related protein (MFRP)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RDLO
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • a knock-in (Ctrp5(+/-)) mouse model carrying the disease-associated mutation in the mouse Ctrp5/C1QTNF5 gene develop slower rod-b wave recovery consistent with early dark adaptation abnormalities, accumulation of hyperautofluorescence spots, retinal pigment epithelium abnormalities, drusen, Bruch's membrane abnormalities, loss of photoreceptors, and retinal vascular leakage