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FLASH GENE
Symbol PDE6A contributors: shn/npt - updated : 20-12-2022
HGNC name phosphodiesterase 6A, cGMP-specific, rod, alpha
HGNC id 8785
Corresponding disease
RP43 autosomal recessive retinitis pigmentosa 43
Location 5q32      Physical location : 149.237.519 - 149.324.356
Synonym name
  • retinal rod photoreceptor cgmp phosphodiesterase, alpha subunit
  • retinitis pigmentosa 43
    • Synonym symbol(s) PDEA1, CGPR-A
    EC.number 3.1.4.35
    DNA
    TYPE functioning gene
    STRUCTURE 86.84 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   transcription factor
    text structure most active segment contained a 177-bp upstream sequence including apparent Crx and Nrl transcription factor binding sites (required for full transcriptional activity of the PDE6A gene)
    MAPPING cloned Y linked   status provisional
    Map The PDE6A gene was mapped to 5q31.2-q34 by southern analysis of rodent-human somatic cell hybrids cen - D5S812 - D5S812 - PDE6A - D5S2015 - D5S2013 - qter
    Authors Pittler (1990)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 5645 100 860 retinal rod cells 2019 30998820
    20 - 5402 - 779 - 2019 30998820
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisual  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    Visualrod photoreceptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N terminal cGMP binding domains
  • a C terminal catalytic domain
    • HOMOLOGY
    interspecies ortholog to Pde6a, Rattus norvegicus
    ortholog to pde6a, Danio rerio
    ortholog to PDE6A, Pan troglodytes
    ortholog to Pde6a, Mus musculus
    Homologene
    FAMILY
  • cyclic nucleotide phosphodiesterase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • cGMP specific nucleotide phosphodiesterase, class VI, alpha subunit, rod photoreceptor
  • is a subunit of a key phototransduction enzyme which participates in processes of transmission and amplification of the visual signal
  • expression of PDE6 alpha in retina is essential for normal expression of PDE6 beta and PDE6 gama
  • key effector enzyme of the phototransduction cascade in rods and cones
  • catalytic PDE6A and PDE6B subunits are enzymatically equivalent
  • binding of PDE6A farnesyl is essential to normal function of AIPL1 and its disruption is one of the mechanisms underlying Leber congenital amaurosis
  • PDE6 holoenzyme consists of catalytic and inhibitory subunits in phototransduction cascade, and PDE6A and PDE6B code for the catalytic and PDE6G the inhibitory subunits in rods
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text PDE
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
  • the phosphodiesterase 6 holoenzyme is a heterotrimer composed of an alpha, beta, and two gamma subunits
  • PDE6 hydrolyzes cGMP to GTP in photoreceptors during phototransduction
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PDE6 beta
  • PDE6 gamma
  • AIPL1 has been shown to bind the farnesylated PDE6A subunit
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP43
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    canine model of arRP due to a PDE6A gene mutation shows puppies failing to develop normal rod-mediated ERG responses and reduced light-adapted a-wave amplitudes from an early age. Development of photoreceptor outer segments stopped, and rod cells were lost by apoptosis. Western blot analysis showed that the PDE6A mutation resulted in a lack of PDE6A protein and other PDE6 subunits