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RBP3 Gene

protein-coding   GIFtS: 58
GCID: GC10M048381

Retinol Binding Protein 3, Interstitial

(Previous names: retinol-binding protein 3, interstitial)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinol Binding Protein 3, Interstitial1 2     D10S652
Interphotoreceptor Retinoid-Binding Protein2 3     D10S662
IRBP2 3     RBPI2
RP662 5     Retinol-Binding Protein 32
Retinol-Binding Protein 3, Interstitial1     Interstitial Retinol-Binding Protein3
D10S642     

External Ids:    HGNC: 99211   Entrez Gene: 59492   Ensembl: ENSG000001076187   OMIM: 1802905   UniProtKB: P107453   

Export aliases for RBP3 gene to outside databases

Previous GC identifers: GC10P047549 GC10P047678 GC10M048317 GC10M047776 GC10M048001 GC10M043133


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RBP3 Gene:
Interphotoreceptor retinol-binding protein is a large glycoprotein known to bind retinoids and found primarily in
the interphotoreceptor matrix of the retina between the retinal pigment epithelium and the photoreceptor cells.
It is thought to transport retinoids between the retinal pigment epithelium and the photoreceptors, a critical
role in the visual process.The human IRBP gene is approximately 9.5 kbp in length and consists of four exons
separated by three introns. The introns are 1.6-1.9 kbp long. The gene is transcribed by photoreceptor and
retinoblastoma cells into an approximately 4.3-kilobase mRNA that is translated and processed into a glycosylated
protein of 135,000 Da. The amino acid sequence of human IRBP can be divided into four contiguous homology domains
with 33-38% identity, suggesting a series of gene duplication events. In the gene, the boundaries of these
domains are not defined by exon-intron junctions, as might have been expected. The first three homology domains
and part of the fourth are all encoded by the first large exon, which is 3,180 base pairs long. The remainder of
the fourth domain is encoded in the last three exons, which are 191, 143, and approximately 740 base pairs long,
respectively. (provided by RefSeq, Jul 2008)

GeneCards Summary for RBP3 Gene:
RBP3 (retinol binding protein 3, interstitial) is a protein-coding gene. Diseases associated with RBP3 include onchocerciasis, and rbp3-related retinitis pigmentosa. GO annotations related to this gene include serine-type peptidase activity and retinoid binding.

UniProtKB/Swiss-Prot: RET3_HUMAN, P10745
Function: IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and
the visual pigments in the photoreceptor cells of the retina

Gene Wiki entry for RBP3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBP3 gene promoter:
         SRF   SRF (504 AA)   SREBP-1c   LCR-F1   Evi-1   YY1   E47   SREBP-1b   SREBP-1a   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBP3 promoter sequence
   Search Chromatin IP Primers for RBP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q11.2   Ensembl cytogenetic band:  10q11.22   HGNC cytogenetic band: 10q11.2

RBP3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBP3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M048381:  view genomic region     (about GC identifiers)

Start:
48,381,487 bp from pter      End:
48,390,991 bp from pter
Size:
9,505 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RET3_HUMAN, P10745 (See protein sequence)
Recommended Name: Retinol-binding protein 3 precursor  
Size: 1247 amino acids; 135363 Da
Caution: It is uncertain whether Met-1 or Met-2 is the initiator
Sequence caution: Sequence=AAC18875.1; Type=Erroneous initiation;
Secondary accessions: Q0QD34 Q5VSR0 Q8IXN0

Explore the universe of human proteins at neXtProt for RBP3: NX_P10745

Explore proteomics data for RBP3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn205, Asn515
  • Modification sites at PhosphoSitePlus

  • See RBP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002891.1  
    ENSEMBL proteins: 
     ENSP00000224600  
    Reactome Protein details: P10745

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR024591 Interphotorcpt_retinol-bd_N
     IPR005151 Interphotoreceptor_retinol-bd

    Graphical View of Domain Structure for InterPro Entry P10745

    ProtoNet protein and cluster: P10745

    UniProtKB/Swiss-Prot: RET3_HUMAN, P10745
    Similarity: Belongs to the peptidase S41A family


    RBP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RET3_HUMAN, P10745
    Function: IRBP shuttles 11-cis and all trans retinoids between the retinol isomerase in the pigment epithelium and
    the visual pigments in the photoreceptor cells of the retina

         Genatlas biochemistry entry for RBP3:
    retinol binding protein 3,133kDa,interstitial,matrix of the retina (includes D10S64,D10S65,D10S66) (lipocalin
    family,Kernel group),monomer

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005501retinoid binding TAS2542268
    GO:0008236serine-type peptidase activity IEA--
    GO:0016918retinal binding IEA--
    GO:0019841retinol binding IEA--
         
    RBP3 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rbp3):
     nervous system  vision/eye 

    RBP3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rbp3tm1Gil for RBP3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RBP3
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    4 qRT-PCR Assays for microRNAs that regulate RBP3:
    hsa-miR-4291 hsa-miR-214 hsa-miR-761 hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidRBP3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RBP3

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RET3_HUMAN, P10745: Secreted, extracellular space, extracellular matrix, interphotoreceptor matrix.
    Note=Interphotoreceptor matrix that permeates the space between the retina and the contiguous layer of pigment
    epithelium cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton2
    nucleus2
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA--
    GO:0033165interphotoreceptor matrix IEA--

    RBP3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RBP3 About    
    See pathways by source

    SuperPathContained pathways About
    1the visual cycle I (vertebrates)
    the visual cycle I (vertebrates)0.52
    The canonical retinoid cycle in rods (twilight vision)0.44
    2Diseases associated with visual transduction
    Visual phototransduction0.44
    The retinoid cycle in cones (daylight vision)0.00
    Diseases associated with visual transduction0.43
    3Signaling by GPCR
    Signal Transduction0.58
    4Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RBP3
        Visual Cycle in Retinal Rods

    1 BioSystems Pathway for RBP3
        the visual cycle I (vertebrates)

    2 Reactome Pathways for RBP3
        The retinoid cycle in cones (daylight vision)
    The canonical retinoid cycle in rods (twilight vision)



    RBP3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBP3
    Interactions:

        Search GeneGlobe Interaction Network for RBP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    Selected Interacting proteins for RBP3 (P107453 ENSP000002246004) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOTCH1P465313, ENSP000002775414I2D: score=1 STRING: ENSP00000277541
    RB1ENSP000002671634STRING: ENSP00000267163
    TFDP1ENSP000003645194STRING: ENSP00000364519
    TFDP2ENSP000003096224STRING: ENSP00000309622
    RCVRNENSP000002261934STRING: ENSP00000226193
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006508proteolysis ----
    GO:0006629lipid metabolic process TAS2542268
    GO:0006810transport IEA--
    GO:0007601visual perception TAS2542268

    RBP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RBP3 (RET3)

    1 DrugBank Compound for RBP3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--17200663 15928609 17049961 15935345 17602665

    Selected Novoseek inferred chemical compound relationships for RBP3 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoid 87.3 157 8318167 (4), 11161734 (4), 10756179 (3), 1606838 (2) (see all 69)
    vitamin a 72 85 7835405 (8), 10655150 (7), 8218196 (4), 7924403 (3) (see all 31)
    11-cis-retinol 67.9 3 14718298 (1), 15928609 (1)
    retinaldehyde 54.3 7 10800207 (1), 10655150 (1), 15928609 (1)
    docosahexaenoic acid 31.9 3 8218196 (1), 9374503 (1)
    retinoic acid 20.4 11 11394872 (3), 14611939 (1), 10800207 (1), 8752109 (1)
    fatty acid 5.97 11 8466918 (4), 10756179 (1), 8318167 (1), 8218196 (1) (see all 5)
    chloramphenicol 3.29 4 11597600 (1), 2160453 (1), 9723991 (1)
    butyrate 0.902 5 11934446 (3)
    nitric oxide 0 1 11710518 (1)



    RBP3 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RBP3 gene: 
    NM_002900.2  

    Unigene Cluster for RBP3:

    Retinol binding protein 3, interstitial
    Hs.591928  [show with all ESTs]
    Unigene Representative Sequence: NM_002900
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000224600(uc001jez.3)
    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate RBP3:
    hsa-miR-4291 hsa-miR-214 hsa-miR-761 hsa-miR-3670
    SwitchGear 3'UTR luciferase reporter plasmidRBP3 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB593121.1 BC039844.1 DQ426897.1 J03912.1 M22453.1 

    2 DOTS entries:

    DT.413025  DT.208339 

    Selected AceView cDNA sequences (see all 70):

    BM663490 BU154221 BQ638569 NM_002900 BQ640704 BM709524 BQ640598 BM709167 
    BC039844 H92943 BM709691 BX094116 AA364117 J03912 BQ638458 BQ637586 
    BU733630 BM727494 BQ186801 BU728529 BQ637660 BU726616 BU728989 BM716277 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATACACA
    RBP3 Expression
    About this image


    RBP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Cells Outer Nuclear Layer
             Retina
             Retinal progenitor-like cells
     
     NULL (Sensory Organs)    fully expand to see all 2 entries
             Retinal progenitor-like cells
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
    RBP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591928
        Custom PCR Arrays for RBP3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RBP3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for RBP3 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbp31 , 5 retinol binding protein 3, interstitial1, 5 82.33(n)1
    85.53(a)1
      14 (20.80 cM)5
    196611  NM_015745.21  NP_056560.11 
     339540225 
    chicken
    (Gallus gallus)
    Aves RBP31 retinol binding protein 3, interstitial 66.67(n)
    66.26(a)
      395553  NM_001024575.1  NP_001019746.1 
    lizard
    (Anolis carolinensis)
    Reptilia RBP36
    retinol binding protein 3, interstitial
    60(a)
    1 ↔ 1
    GL343297.1(527724-547825)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia rbp31 retinol binding protein 3, interstitial 60.57(n)
    60.98(a)
      100498171  XM_002940641.2  XP_002940687.1 
    zebrafish
    (Danio rerio)
    Actinopterygii irbpl1 interphotoreceptor retinoid-binding protein like 55.53(n)
    52.6(a)
      794630  XM_005155990.1  XP_005156047.1 


    ENSEMBL Gene Tree for RBP3 (if available)
    TreeFam Gene Tree for RBP3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBP3 (see all 454)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0359294
    A colorectal cancer sample4--see VAR_0359292 R H mis40--------
    VAR_0697064
    Retinitis pigmentosa 66 (RP66)4--see VAR_0697062 D N mis40--------
    rs1461505111,2
    Cuntested148778284(+) CATGTC/TGATGA 2 N D mis11Minor allele frequency- T:0.00NA 4552
    rs1819473861,2
    --48773476(+) GGCTGA/GCATCA 1 -- ds50010--------
    rs1500432311,2
    --48773516(+) ATTCTC/TTGATC 1 -- ds50010--------
    rs1477126681,2
    --48773560(+) AGGAGA/GACACA 1 -- ds50010--------
    rs1158251731,2
    F--48773603(+) AGCTGC/TGGAGT 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs1420833081,2
    --48773722(+) GGGCCA/GCACCA 1 -- ds50010--------
    rs1859002861,2
    --48773759(+) GATCTG/TTGCCA 1 -- ds50010--------
    rs1918196331,2
    --48773767(+) CCACCC/TGCTGA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for RBP3 (48381487 - 48390991 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RBP3 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv436102CNV Deletion17901297
    esv2736163CNV Deletion23290073
    nsv831861CNV Loss17160897
    nsv895342CNV Loss21882294
    nsv895344CNV Loss21882294
    dgv696n71CNV Gain21882294
    nsv895343CNV Gain21882294
    nsv467059CNV Gain19166990
    nsv8636CNV Gain+Loss18304495
    esv21870CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): RBP3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBP3
    DNA2.0 Custom Variant and Variant Library Synthesis for RBP3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 180290   
    OMIM disorders: 615233  
    UniProtKB/Swiss-Prot: RET3_HUMAN, P10745
  • Retinitis pigmentosa 66 (RP66) [MIM:615233]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for RBP3 (see all 32):    
    About MalaCards
    onchocerciasis    rbp3-related retinitis pigmentosa    cerebellar medulloblastoma    posterior uveitis
    sipple syndrome    retinitis pigmentosa 66    eales disease    chorioretinitis
    proliferative vitreoretinopathy    fundus albipunctatus    uveitis    behcet's disease
    retinoblastoma    rhyns syndrome    hypersensitivity reaction type ii disease    diphtheria
    vasculitis    leber congenital amaurosis    night blindness    retinal degeneration

    2 diseases from the University of Copenhagen DISEASES database for RBP3:
    Uveitis     Retinal degeneration

    RBP3 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for RBP3 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    uveitis 86.4 55 2091897 (3), 20089879 (3), 9129978 (2), 8935743 (2) (see all 30)
    onchocerciasis ocular 79.4 1 2365568 (1)
    retinoblastoma 69.2 21 11597600 (4), 8115118 (2), 11134581 (2), 11301407 (2) (see all 10)
    pineal tumors 65.8 4 8360704 (2)
    autoimmune response 62.7 5 2365568 (1), 2378211 (1), 1936175 (1), 2200648 (1)
    retinitis pigmentosa 57.3 14 1974891 (3), 1577290 (1), 7474803 (1), 17963276 (1) (see all 5)
    chorioretinitis 55.6 2 2378211 (2)
    autoimmunity 55.4 2 18266969 (1), 16585264 (1)
    retinal degeneration 52.3 5 8001085 (2), 19074801 (1), 1936175 (1)
    autoimmune diseases 50.8 6 1424752 (1), 8393049 (1), 16899371 (1), 10903340 (1)

    Genetic Association Database (GAD): RBP3
    Human Genome Epidemiology (HuGE) Navigator: RBP3 (5 documents)

    Export disorders for RBP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBP3 gene, integrated from 10 sources (see all 237):
    (articles sorted by number of sources associating them with RBP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. (PubMed id 19074801)1, 2, 9 den Hollander A.I....Berson E.L. (amp 2009)
    2. Hypomethylation of the interphotoreceptor retinoid-binding protein (IRBP) promotor and first exon is linked to expression of the gene. (PubMed id 2402443)1, 2, 9 Albini A.... Noonan D.M. (Nucleic Acids Res. 1990)
    3. Characterization and comparative structural features of the gene for human interstitial retinol-binding protein. (PubMed id 2303470)1, 2, 9 Fong S.-L.... Bridges C.D.B. (J. Biol. Chem. 1990)
    4. Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). (PubMed id 23486466)1, 2 Li S....Jin M. (J. Biol. Chem. 2013)
    5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (Invest. Ophthalmol. Vis. Sci. 2011)
    6. Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations. (PubMed id 21067480)1, 4 Ksantini M....Hamel C.P. (Ophthalmic Genet. 2010)
    7. Cloning of cDNAs encoding human interphotoreceptor retinoid-binding protein (IRBP) and comparison with bovine IRBP sequences. (PubMed id 2792773)1, 2 Si J.S.... Nickerson J.M. (Gene 1989)
    8. Human interstitial retinoid-binding protein. Gene structure and primary structure. (PubMed id 2542268)1, 2 Liou G.I.... Baehr W. (J. Biol. Chem. 1989)
    9. Internal quadruplication in the structure of human interstitial retinol-binding protein deduced from its cloned cDNA. (PubMed id 3170584)1, 2 Fong S.-L. and Bridges C.D.B. (J. Biol. Chem. 1988)
    10. Human interstitial retinol-binding protein (IRBP): cloning, partial sequence, and chromosomal localization. (PubMed id 3455009)1, 2 Liou G.I....Bridges C.D.B. (Somat. Cell Mol. Genet. 1987)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 5949 HGNC: 9921 AceView: RBP3 Ensembl:ENSG00000107618 euGenes: HUgn5949
    ECgene: RBP3 H-InvDB: RBP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for RBP3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBP3 gene:
    Search GeneIP for patents involving RBP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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