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FLASH GENE
Symbol OPN1LW contributors: mct - updated : 23-12-2014
HGNC name opsin 1 (cone pigments), long-wave-sensitive
HGNC id 9936
Corresponding disease
CBP color blindness, protan series, partial
CORDX5 cone-rod dystrophy 5
Location Xq28      Physical location : 153.409.724 - 153.424.505
Synonym name
  • opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan)
  • color blindness, protan
  • red cone photoreceptor pigment
  • red-sensitive opsin
  • Synonym symbol(s) RCP, OPSR, CBBM, ROP, CBP,
    DNA
    TYPE functioning gene
    STRUCTURE 14.78 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map cen - (OPN1LW ) - DXS498 - DXS499 - OPN1MW (1 to 7) - qter
    Authors Neitz (95)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1234 40.4 364 - Liu (2007)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina   
     eyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsensoryvisual  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • seven transmembrane (7TM) receptor
  • HOMOLOGY
    Homologene
    FAMILY
  • G-protein coupled receptor 1 family
  • Opsin subfamily
  • CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • long wave photon absorption with a maximum at 560 nm (in the yellow-green)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • opsin expression in terminally differentiated mammalian cones remains subject to control by TH (Thyroid hormone)
  • cell & other
    REGULATION
    activated by TH (Liu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) CBP , CORDX5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS