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FLASH GENE
Symbol PDE6C contributors: mct/npt - updated : 14-12-2022
HGNC name phosphodiesterase 6C, cGMP-specific, cone, alpha prime
HGNC id 8787
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/EquilibriumearinnercochleaCorti  Homo sapiens
Visualeyeretinafovea  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialsensoryvisual  
cells
SystemCellPubmedSpeciesStageRna symbol
Hearing / Equilibriumcochlea cell Homo sapiens
Visualcone photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two N terminal cGMP binding domains
  • two GAF domains (GAF-A and GAF-B)
  • a C terminal catalytic domain
  • HOMOLOGY
    Homologene
    FAMILY
  • cyclic nucleotide phosphodiesterase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • converts cGMP to 5prime-GMP, and thereby plays an essential role in cone phototransduction (Thiadens 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • molecular pathway linking CNGA3, its binding partner EMILIN1 and PDE6C, which is potentially replicated in cochlear outer hair cells, given stereociliary immunolocalizations of CNGA3, EMILIN1 and PDE6C
  • is an essential effector enzyme in vertebrate photoreceptor cells
  • PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6C codes for the catalytic and PDE6H the inhibitory subunits in cones
  • encodes the catalytic alpha prime-subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction cascade
  • a component
  • two alpha' subunits that are associated with 3 smaller proteins of 11, 13, and 15 kDa
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • AIPL1 was unexpectedly capable of inducing the maturation of unprenylated cone PDE6C, whereas mutant AIPL1 deficient in prenyl binding competently cochaperoned prenylated PDE6C
  • cell & other
    REGULATION
    activated by TH (Liu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) RCD7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    spontaneous mouse mutant cpfl1, featuring a lack of cone function and rapid cone photoreceptor degeneration, represents a homologous mouse model for PDE6C associated achromatopsia (Chang 2009)