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FLASH GENE
Symbol RHO contributors: shn/mct - updated : 25-09-2017
HGNC name rhodopsin
HGNC id 10012
DNA
TYPE functioning gene
STRUCTURE 6.71 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure a 100-bp sequence functions as a rhodopsin enhancer region
MAPPING cloned Y linked Y status confirmed
Map cen - D3S3606 - D3S3607 - RHO - D3S1587 - D3S3548 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 2768 - 348 rod photoreceptor-specific 2000 10926528
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina  specific
cells
SystemCellPubmedSpeciesStageRna symbol
Visualrod photoreceptor
cell lineage
cell lines
fluid/secretion
at STAGE
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