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FLASH GENE
Symbol RD3 contributors: mct/pgu - updated : 01-06-2021
HGNC name RD3 regulator of GUCY2D
HGNC id 19689
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES basic
STRUCTURE
motifs/domains
  • an N-terminal mitochondrial targeting signal
  • several consensus casein kinase II and protein kinase C phosphorylation sites
  • one predicted sumoylation site
  • putative coiled-coil domains at amino acids 22–54 and 115–141
  • HOMOLOGY
    interspecies ortholog to murine 3322402L07Rik
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus
    text
  • plays an essential role in the exit of guanylate cyclase from the ER and its trafficking to photoreceptor cone outer segments (OSs)
  • basic FUNCTION
  • may be part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing
  • mediates the membrane trafficking of GUCY2D out of the ER of cells
  • photoreceptor guanylate cyclase-binding protein required for the stable expression and membrane vesicle trafficking of GUCY2D and GUCY2F in photoreceptors
  • crucial for guanylate cyclase expression and trafficking in photoreceptors
  • chaperone trafficking protein, implicated in the stable expression of guanylate cyclase in photoreceptor cells
  • essential for normal expression of retinal membrane guanylyl cyclase (GUCY2D) in photoreceptor cells, and blocks GUCY2D catalytic activity and stimulation by guanylyl cyclase-activating proteins (GCAPs)
  • may play likely an important role in the normal functioning of epithelial cells limited in the CNS
  • complex function of RD3 in photoreceptors, and RD3 - guanylate kinase interaction may also play a role in other cellular systems, while the GC - RD3 interaction is exclusive to photoreceptors
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • colocalizes and binds to GUCY2D and GUCY2F and plays a crucial role in their stable expression and membrane trafficking in rod and cone photoreceptors
  • opposes the allosteric activation of the cyclase by GUCA1A but does not significantly change Ca(2+) sensitivity of the GUCA1A-dependent regulation
  • GUCY2D, GUCY2F interaction with RD3 inhibits GC catalytic activity and promotes the exit of GUCY2D, GUCY2F from the endoplasmic reticulum and their trafficking to photoreceptor outer segments
  • main GUCY2D-binding interface on RD3 required for the negative regulation of the cyclase localizes to the Lys(87)-Leu(122) region.
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LCA12
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorialvisualretina
    provides a basis for developing therapeutic strategies for treating these retinal degenerative diseases
    ANIMAL & CELL MODELS