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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
    Physical map
    ALOX5 10q11.2 arachidonate 5-lipoxygenase MIR 10q11.22 c-mir, cellular modulator of immune recognition LOC387664 10 LOC387664 ANUBL1 10q11.22 AN1, ubiquitin-like, homolog (Xenopus laevis) LOC143158 10q11.22 similar to ARF GTPase-activating protein LOC389959 10 similar to KIAA0592 protein KIAA0592 10q11.1 KIAA0592 protein MRIP2 10q11.22 ARF GTPase-activating protein LOC389960 10 hypothetical gene supported by AY258587; NM_003631 LOC387665 10 similar to ARF GTPase-activating protein LOC387666 10 similar to Ribosome biogenesis protein BMS1 homolog LOC389961 10 hypothetical gene supported by L25628 RHEBP1 10q11 Ras-homolog enriched in brain pseudogene 1 SYT15 10q11.1 synaptotagmin XV PPYR1 10q11.2-q21.2 pancreatic polypeptide receptor 1 LOC387667 10 hypothetical gene supported by BC004945; NM_002136 LOC220466 10q11.22 similar to ARF GTPase-activating protein LOC340733 10q11.22 similar to Dual specificity phosphatase 8 CTSLL2 10q22 cathepsin L-like 2 LOC340844 10q11.22 similar to Ahcy protein LOC195977 10q11.22 hypothetical protein LOC195977 LOC387668 10 similar to ARF GTPase-activating protein ANXA8 10q11.2 annexin A8 FLJ10824 10q11.22 hypothetical protein FLJ10824 LOC389963 10 similar to Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) LOC387669 10 LOC387669 LOC387670 10 hypothetical gene supported by NM_133446 ZNF488 10q11.22 zinc finger protein 488 RBP3 10q11.2 retinol binding protein 3, interstitial GDF2 10q11.22 growth differentiation factor 2 GDF10 10q21.1 growth differentiation factor 10 DKFZP566K0524 10q11.22 DKFZP566K0524 protein LOC387671 10 similar to ARF GTPase-activating protein LOC387672 10 similar to Ribosome biogenesis protein BMS1 homolog LOC387673 10 similar to Glutamate dehydrogenase, mitochondrial precursor (GDH) LOC338598 10q11.22 similar to hypothetical protein MGC5560 LOC118706 10q11.22 similar to ARF GTPase-activating protein LOC387674 10 similar to Ribosome biogenesis protein BMS1 homolog MGC35285 10q11.22 hypothetical protein MGC35285 MAPK8 10q11.2 mitogen-activated protein kinase 8 RhoGAP2 LOC387675 10 LOC387675 LOC159491 LOC389964 10 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein KIAA1607 FLJ31737 LOC170370 10q11.23 hypothetical LOC170370 LOC170371 10q11.23 hypothetical protein LOC170371 LOC118461 DRG11 ERCC6 10q11 excision repair cross-complementing rodent repair deficiency, complementation group 6 PGBD3 10q11 piggyBac transposable element derived 3 CHAT 10q11.2 choline acetyltransferase SLC18A3 10q11.2 solute carrier family 18 (vesicular acetylcholine), member 3 LOC282966 10q11.23 hypothetical protein LOC282966 FLJ10851 10q11.23 hypothetical protein FLJ10851
    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)