Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol RP1 contributors: npt/shn - updated : 01-09-2010
HGNC name retinitis pigmentosa 1 (autosomal dominant)
HGNC id 10263
Corresponding disease
RP1 retinitis pigmentosa 1
Location 8q12.1      Physical location : 55.528.626 - 55.543.394
Synonym name
  • oxygen-regulated protein 1
  • oxygen-regulated photoreceptor protein 1
  • retinitis pigmentosa 1 protein
  • retinitis pigmentosa RP1 protein
    • Synonym symbol(s) ORP1, DCDC4A, FLJ50293, FLJ55454, FLJ79410
    EC.number 3.4.21.4
    DNA
    TYPE functioning gene
    STRUCTURE 14.80 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map cen - D17S843 - D8S1737 - RP1 RP1 - D8S2332 - D8S1828 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 7100 - 2156 connecting cilia of photoreceptor cells Liu et al, 2002
    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)