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FLASH GENE
Symbol PDE6D contributors: mct - updated : 29-06-2015
HGNC name phosphodiesterase 6D, cGMP-specific, rod, delta
HGNC id 8788
Corresponding disease
JBTS22 Joubert syndrome 22
Location 2q37.1      Physical location : 232.597.146 - 232.645.974
Synonym name
  • GMP-PDE delta
  • protein p17
  • retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta
  • prenyl-binding protein, PrBP(PDEdelta)
  • Synonym symbol(s) PDED, PrBP/delta
    EC.number 3.1.4.17
    DNA
    TYPE functioning gene
    STRUCTURE 48.83 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 1140 17 150 - 1998 9570951
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivesalivary gland   highly
    Reproductivefemale systemuteruscervix highly
    Skin/Tegumentskin   highly
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisual  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two putative C terminal sequences for the interaction with PDZ (PSD95, DLG, ZO-1) domains of proteins localized to specific plasma membrane microdomains
  • HOMOLOGY
    intraspecies homolog to UNC119
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    basic FUNCTION
  • cGMP specific nucleotide phosphodiesterase, class VI, delta subunit
  • putatively involved in the control of the dynamic of RAB13 association with cellular membranes
  • functions as a prenyl-binding protein interacting with multiple prenylated proteins
  • role in the transport of prenylated proteins from their site of synthesis in the inner segment to the outer segment where phototransduction occurs
  • functional role of PDE6D in alveolar epithelial cells proliferation
  • its activity augments K/HRAS signalling by enriching RAS at the plasma membrane, and conversely, its down-modulation randomizes RAS distributions to all membranes in the cell
  • its activity is linked in determining RAS protein topography to RAS-dependent signalling
  • is required for INPP5E ciliary targeting, suggesting a broader role for PDE6D in targeting other prenylated proteins to the cilia
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with numerous prenylated proteins at their farnesylated or geranylgeranylated C-termini, as well as with non-prenylated proteins
  • interacts specifically with PTGIR to modulate receptor trafficking
  • INPP5E is a novel prenyl-dependent cargo of PDE6D
  • in photoreceptors, ARL2 and ARL3 participate in the trafficking of lipidated membrane-associated proteins and colocalize in the inner segment with UNC119 and PDE6D
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) JBTS22
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    in retina impairs transport of prenylated proteins, particularly GRK1 and cone PDE, to rod and cone outer segments, resulting in altered photoreceptor physiology and a phenotype of a slowly progressing rod/cone dystrophy
    constitutional     --low  
    in idiopathic pulmonary fibrosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS