Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RD3 contributors: mct/pgu - updated : 01-06-2021
HGNC name RD3 regulator of GUCY2D
HGNC id 19689
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