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FLASH GENE
Symbol RGR contributors: mct - updated : 10-12-2020
HGNC name retinal G protein coupled receptor
HGNC id 9990
Corresponding disease
RP44 retinitis pigmentosa 44
Location 10q23.1      Physical location : 86.004.808 - 86.018.944
Synonym name
  • RGR-opsin
  • RPE retinal G-protein coupled receptor
    • Synonym symbol(s) RP44
    DNA
    TYPE functioning gene
    STRUCTURE 16.22 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D10S1786 - D10S551 - RGR - D10S1658 - D10S1744 - qter
    Authors Morimura (99)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2247 31 295 - 2016 27748892
    7 splicing 2235 - 291 - 2016 27748892
    6 splicing 2121 - 253 . RGR-d is in the plasma membrane indicating that the protein is properly folded . in cone photoreceptors 2016 27011730
  • RGRd
  • an alternate in-frame zsplice site in the 5'coding region, lacking an exon in the 3'coding region
  • may escape endoplasmic reticulum-associated degradation and in contrast to full-length RGR, traffick to the basolateral plasma membrane, particularly in younger subject
    		•
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highlyHomo sapiens
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor Homo sapiens
    VisualMuller cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		seven transmembrane segments (7TM) receptor)
    conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Rgr
    homolog to rattus Rn.26828
    homolog to xenopus Xl.17609
    homolog to C.elegans F54F11.1
    intraspecies homolog to retinal opsin
    homolog to rhodopsin
    Homologene
    FAMILY
  • G protein coupled receptor superfamily (family 1)
  • OPSIN subfamily
    • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • acting as a receptor for all trans- and 11-cis-retinal and functioning in a light - dependent pâthway of the rod visual cycle
  • catalysing the isomerization of the chromophore by a retinochrome-like mechanism
  • enhancing rhodopsin regeneration in the dark and required for normal functioning of the retina
  • in the dark, inhibits lecithin:retinol acyltransferase and all-trans-retinyl ester hydrolase and this inhibition is released upon exposure to light
  • novel role for RGR in intrinsically photosensitive retinal ganglion cells (ipRGCs) to modulate retinaldehyde levels in light, keeping the balance of inner retinal retinoid pools
  • RGR opsin is a critical component of the Müller cell visual cycle and regeneration of cone visual pigment can be driven by light
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other binding to all trans- and 11-cis-retinal
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP44
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS