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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
Corresponding disease
RDLO retinal degeneration, late-onset
Location 11q23.3      Physical location : 119.209.651 - 119.217.383
Synonym name
  • short chain collagen type IV
  • complement C1q tumor necrosis factor-related protein 5 precursor variant 3
  • complement-c1q tumor necrosis factor-related protein 5
  • Synonym symbol(s) CTRP5, LORD, DKFZp586B0621, FLJ30570, UNQ303/PRO344
    DNA
    TYPE functioning gene
    STRUCTURE 7.73 kb     15 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure a putative promoter region between nt -1322 and +1 sequence and presence of the transcriptional start site at 62 bp upstream of the start codon in the CTRP5 (
    MAPPING cloned Y linked N status provisional
    Map cen - D11S1364 - D11S4104 - C1QTNF5 - D11S4171 - D11S4129 - qter
    regionally located located in the 3' untranslated region of the Membrane Frizzled Related Protein gene
    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