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FLASH GENE
Symbol RHO contributors: shn/mct - updated : 25-09-2017
HGNC name rhodopsin
HGNC id 10012
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • is glycosylated at asparagines-2 and 15 on its N-terminus, and glycosylation is necessary for its stability and incorporation into photoreceptor outer segment discs
  • transmembrane helix receptor
  • ciliary targeting VxPx motif binding the small GTPase ARF4 and regulates its association with the trans-Golgi network (TGN)
  • a rhodopsin cytoplasmic domain with a function during opsin-triggered photoreceptor degeneration
    • conjugated PhosphoP
    HOMOLOGY
    interspecies ortholog to Rho, Mus musculus
    ortholog to rho, Danio rerio
    ortholog to Rho, Rattus norvegicus
    Homologene
    FAMILY
  • G-protein coupled receptor 1 family
  • opsin subfamily
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text disc membrane of the outer segment of rod photoreceptor
    basic FUNCTION
  • initiates the visual transduction cascade
  • multiple phosphorylation of rhodopsin is necessary for rapid and reproducible deactivation
  • rhodopsin is essential for the generation or transduction of the intracellular death signal induced by light
  • essential for photoreceptor morphogenesis
  • PDE6G with RHO, GNAT1, GNB1, are active in phototransduction in rods only
  • membrane protein that function as light photoreceptors in the vertebrate retina
  • homoeostatic regulation of the light sensor, rhodopsin, is critical for the maintenance of light sensitivity and survival of photoreceptors
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS phototransduction , visual cycle
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    visual cascade
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • adrenergic, beta, receptor kinase, ADRBK1
  • binds and catalytically activates the heterotrimeric G protein transducin
  • rhodopsin kinase
  • IMPDH1 (associated with polyribosomes containing rhodopsin mRNA
  • ER degradation enhancing alpha-mannosidase-like 1, EDEM1
  • zinc finger nucleases
  • NRL activated rhodopsin and PPP2R5C transcription by recruiting KAT5 to promote histone H3/H4 acetylation
  • SAG preferentially binds active phosphorylated RHO
  • SAG binds light-activated phosphoRHO and ensures timely signal shutoff
  • RER1 regulates the ER retention of immature or misfolded RHO and modulates its intracellular trafficking through the early secretory pathway
  • GUCY1A3 is a novel rhodopsin-binding protein
  • rhodopsin is involved in PRCD unknown yet essential function in photoreceptors
  • GBF1 and ARF4 synergize with the sensory receptor cargo, RHO, to regulate ciliary membrane trafficking
    • cell & other
    REGULATION
    repressed by KLF15
    Other phosphorylated by G protein-coupled receptor kinase 6, GRK6
    phophorylated by rhodopsin kinase, RK
    ASSOCIATED DISORDERS
    corresponding disease(s) RP4 , ARRP1 , CSNB6
    related resource Rhodopsin
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurosensorial  
    expression of a dominant-active Drosophila Rho guanosine triphosphatase, Drac1, rescued photoreceptor morphogenesis in rhodopsin-null mutants
    ANIMAL & CELL MODELS
  • Mice carrying the missense mutation (P23H) in the rhodopsin gene and mice overexpressing the wild-type human rodhopsin gene develop photoreceptor degeneration
  • mice carrying a targeted disruption of the rhodopsin gene do not elaborate rod outer segments, there is no rod ERG response in 8-week-old animals and lose their photoreceptors over 3 months. Rho+/- mice display structural disorganization of the retina
  • rhodopsin knockout mice display completely photoreceptor cells degeneration
  • Rho-/- mice do not express the apoprotein opsin in photoreceptors are completely protected against light-induced apoptosis
  • English Mastiff dogs with a naturally occurring dominant retinal degeneration and a dramatically slowed time course of recovery of rod photoreceptor function after light exposure have a point mutation in the RHO gene (Thr4Arg)
  • rats expressing mutations in rhodopsin gene display photoreceptor cell damage from exposure to light
  • T17M mutant human rhodopsin transgene in mice exhibit a sensitivity to light-induced damage causing severe loss of a- and b-wave ERG responses and photoreceptor apoptosis
  • introduction of Rh1P37H mutation corresponding to human RhoP23H in Drosophila leads to photoreceptor degeneration due to rhodopsin mislocalizion
  • ENU-mutagenized mouse line (R3) carrying an homozygous Rho mutation (p.C185R) lose photoreceptors rapidly with flat a- and b-waves ERG, R3/+ mice have a slower rate of photoreceptor cell loss