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FLASH GENE
Symbol RBP3 contributors: shn/npt - updated : 21-12-2009
HGNC name retinol binding protein 3, interstitial
HGNC id 9921
Corresponding disease
RP66 retinitis pigmentosa 66
Location 10q11.22      Physical location : 48.381.488 - 48.390.991
Synonym name
  • interphosphoreceptor retinoid binding protein
  • retinol-binding protein 3
  • retinol-binding protein 3 precursor
  • Synonym symbol(s) IRBP, RBPI, D10S64, D10S65, D10S66
    DNA
    TYPE functioning gene
    STRUCTURE 9.50 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    MAPPING cloned Y linked Y status confirmed
    Map cen - D10S1413 - D10S225 - RBP3 - D10S175 -D10S1754 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 4289 135 1247 photoreceptors and interphotoreceptor matrix Bunt-Milam 1983
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Visualeyeretina  specific
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialbarrier liningretinal pigment epithelium (RPE) highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a retinol binding domain
  • four tandem homologous modules
  • HOMOLOGY
    interspecies ortholog to Rbp3, Mus musculus
    ortholog to Rbp3, Rattus norvegicus
    ortholog to RBP3, Pan troglodytes
    Homologene
    FAMILY
  • interphotoreceptor retinoid-binding protein family
  • peptidase S41A family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
    text extracellular matrix, in the space between RPE and retina
    basic FUNCTION
  • essential for normal rod and cone function
  • a role in the transport of retinoids between the photoreceptors and the retinal pigment epithelium
  • may be involved in retinal development (Liou 1998)
  • involved in energy metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text a role in the visual cycle
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • retinol
  • fatty acids
  • protein
    cell & other
    REGULATION
    inhibited by ZNF239
    repressed by KLF15
    ASSOCIATED DISORDERS
    corresponding disease(s) RP66
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
             
    -
    Susceptibility uveitis
    Variant & Polymorphism
  • the mutation Asp1080Asn is associated with autosomal recessive retinitis pigmentosa (den Hollander 2009)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Irbp-/- mice exhibit a significant loss of photorecetors and profound changes in the structure and organization of the outer segments. ERG show a marked reduction of cone and rod-mediated response amplitudes (Liou 1998)