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Symbol RP1L1 contributors: mct/npt - updated : 07-12-2020
HGNC name retinitis pigmentosa 1-like 1
HGNC id 15946
Corresponding disease
OMACD occult macular dystrophy
RP88 retinitis pigmentosa 88
Location 8p23.1      Physical location : 10.463.861 - 10.512.617
Synonym name
  • doublecortin domain containing 4B
  • Synonym symbol(s) DC4B, DCDC4B, OCMD, RP88
    DNA
    TYPE functioning gene
    STRUCTURE 48.76 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text several length polymorphisms, three distinct polyadenylation signals
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 7978 - 2400 - 2003 12724644
    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
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • two N-terminal doublecortin (DC) domains
  • two C-terminal coiled-coil domains
  • HOMOLOGY
    interspecies ortholog to murine Rp1hl1
    intraspecies paralog to RP1
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • playing a role in visual perception
  • plays essential roles in the cone functions
  • likely involved in the maintenance of the morphologic and functional characteristics of the photoreceptors
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text intracellular signaling cascade
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • RP1L1 appears to have a complex relationship with other photoreceptor proteins and may modify disease phenotype
  • cell & other
    REGULATION
    activated by TH (Liu 2007)
    ASSOCIATED DISORDERS
    corresponding disease(s) OMACD , RP88
    Susceptibility
    Variant & Polymorphism SNP highly polymorphic
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS