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FLASH GENE
Symbol RP1 contributors: npt/shn - updated : 01-09-2010
HGNC name retinitis pigmentosa 1 (autosomal dominant)
HGNC id 10263
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
  • doublecortin-like (DC) domain (two tandemly repeated 80 amino acid regions at the N terminal region) constituting novel microtubule-binding modules
  • one putative transmembrane segment
  • a leucine zipper motif
    • HOMOLOGY
    interspecies ortholog to Rp1, Mus musculus
    ortholog to Rp1, Rattus norvegicus
    ortholog to RP1, Pan troglodytes
    intraspecies homolog to some homology with double cortin in the N region
    Homologene
    FAMILY
    CATEGORY transcription factor , signaling neurotransmitter
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text connecting cilia of the photoreceptor
    basic FUNCTION
  • playing a role in the differentiation of photoreceptor cells and participating in transport of protein between the inner and outer segments of photoreceptors or in maintenance of cilial structure (Liu et al, 2002)
  • doublecortin-containing microtubule associated protein, having has an important but unknown role in photoreceptor biology
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction , sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with JNK signaling cascades (MAPK8, MAPK9, MAPK10, MAP2, MAP2K4, JUN), and playing integral roles in photoreceptor development and maintenance
  • C-terminal region of the APC protein and tubulin (Juwana et al, 1999)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP1
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • disruption of Rp1 in mice retina lead to specific alterations of gene expression in the c-Jun N-terminal kinase
    • signaling cascades (Liu et al, 2005)