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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)
    Physical map
    ABCD1 Xq28 ATP-binding cassette, sub-family D (ALD), member 1 PLXNB3 Xq28 plexin B3 STK23 Xq28 serine/threonine kinase 23 IDH3G Xq28 isocitrate dehydrogenase 3 (NAD+) gamma SSR4 Xq28 signal sequence receptor, delta (translocon-associated protein delta) KIAA1444 Xq28 LU1 protein HCP45 Xq28 cytochrome c, somatic pseudogene L1CAM Xq28 L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1) AVPR2 Xq28 arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) ARHGAP4 Xq28 Rho GTPase activating protein 4 ARD1 Xq28 ARD1 homolog, N-acetyltransferase (S. cerevisiae) RENBP Xq28 renin binding protein HCFC1 Xq28 host cell factor C1 (VP16-accessory protein) CXorf12 Xq28 chromosome X open reading frame 12 IRAK1 Xq28 interleukin-1 receptor-associated kinase 1 MECP2 Xq28 methyl CpG binding protein 2 (Rett syndrome) OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) CXorf2 Xq28 chromosome X open reading frame 2 TKTL1 Xq28 transketolase-like 1 FLNA Xq28 filamin A, alpha (actin binding protein 280) EMD Xq28 emerin (Emery-Dreifuss muscular dystrophy) RPL10 Xq28 ribosomal protein L10 DNASE1L1 Xq28 deoxyribonuclease I-like 1 TAZ Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ATP6AP1 Xq28 ATPase, H+ transporting, lysosomal accessory protein 1 GDI1 Xq28 GDP dissociation inhibitor 1 DXS9928E Xq28 DNA segment on chromosome X (unique) 9928 expressed sequence PLXN3 Xq28 likely ortholog of mouse plexin 3
    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