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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3927 - 243 - -
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver   highly Homo sapiens
 salivary gland   highly
Endocrinepancreas   highly
Nervousbrain    
Reproductivefemale systemuterus   
 female systemplacenta  highly Homo sapiens
 male systemprostate   
Respiratorylung   moderately Homo sapiens
Urinarykidney   lowly Homo sapiens
Visualeyeretinamacula  
 eyeretinafovea  
 eyeanterior segment   
 eyeuveachoroid  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  predominantly Homo sapiens
Epithelialbarrier/liningretinal pigment epithelium (RPE) moderately Homo sapiens
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
Muscular   lowly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text eyes, lens, eye anterior segment, optic nerve, retina, foveal and macular, RPE and choroid
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