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RLBP1 Gene

protein-coding   GIFtS: 61
GCID: GC15M089753

Retinaldehyde Binding Protein 1

(Previous name: retinaldehyde-binding protein 1)
  See RLBP1-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
Retinaldehyde Binding Protein 11 2
Retinaldehyde-Binding Protein 11 2
Cellular Retinaldehyde-Binding Protein2 3
CRALBP2 3
Cellular Retinaldehyde-Binding Protein-12

External Ids:    HGNC: 100241   Entrez Gene: 60172   Ensembl: ENSG000001405227   OMIM: 1800905   UniProtKB: P122713   

Export aliases for RLBP1 gene to outside databases

Previous GC identifers: GC15M086092 GC15M083118 GC15M087340 GC15M087482 GC15M087554 GC15M065865


(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 RLBP1 Gene:
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or
11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this
gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive
retinitis pigmentosa) and retinitis punctata albescens. (provided by RefSeq, Jul 2008)

GeneCards Summary for RLBP1 Gene:
RLBP1 (retinaldehyde binding protein 1) is a protein-coding gene. Diseases associated with RLBP1 include rlbp1-related fundus albipunctatus, and retinitis pigmentosa, autosomal recessive, bothnia type. GO annotations related to this gene include transporter activity and 11-cis retinal binding. An important paralog of this gene is TTPAL.

UniProtKB/Swiss-Prot: RLBP1_HUMAN, P12271
Function: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates
in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the
rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The
cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'

Gene Wiki entry for RLBP1 (Retinaldehyde-binding protein 1) 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 at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the RLBP1 gene promoter:
         E2F-3a   E2F-4   E2F-5   MyoD   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   MIF-1   E2F-2   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRLBP1 promoter sequence
   Search Chromatin IP Primers for RLBP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RLBP1


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

Entrez Gene cytogenetic band: 15q26   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

RLBP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RLBP1 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M089753:  view genomic region     (about GC identifiers)

Start:
89,753,098 bp from pter      End:
89,764,982 bp from pter
Size:
11,885 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: RLBP1_HUMAN, P12271 (See protein sequence)
Recommended Name: Retinaldehyde-binding protein 1  
Size: 317 amino acids; 36474 Da
6 PDB 3D structures from and Proteopedia for RLBP1:
1XGG (3D)        1XGH (3D)        3HX3 (3D)        3HY5 (3D)        4CIZ (3D)        4CJ6 (3D)    
Secondary accessions: B2R667

Explore the universe of human proteins at neXtProt for RLBP1: NX_P12271

Explore proteomics data for RLBP1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RLBP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000317.1  
    ENSEMBL proteins: 
     ENSP00000268125   ENSP00000454740   ENSP00000457251  
    Reactome Protein details: P12271

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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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    3 InterPro protein domains:
     IPR001071 CRAL-bd_toc_tran
     IPR001251 CRAL-TRIO_dom
     IPR011074 CRAL/TRIO_N_dom

    Graphical View of Domain Structure for InterPro Entry P12271

    ProtoNet protein and cluster: P12271

    2 Blocks protein domains:
    IPB001071 Cellular retinaldehyde-binding protein signature
    IPB001251 Cellular retinaldehyde-binding (CRAL)/Triple function domain (TRIO)


    UniProtKB/Swiss-Prot: RLBP1_HUMAN, P12271
    Similarity: Contains 1 CRAL-TRIO domain


    Find genes that share domains with RLBP1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RLBP1_HUMAN, P12271
    Function: Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates
    in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the
    rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The
    cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'

         Genatlas biochemistry entry for RLBP1:
    retinaldehyde binding protein,cellular

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:000550211-cis retinal binding IEA--
    GO:0019841retinol binding IEA--
         
    Find genes that share ontologies with RLBP1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for RLBP1:
     Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rlbp1):
     integument  nervous system  pigmentation  vision/eye 

    Find genes that share phenotypes with RLBP1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rlbp1tm1Jsa for RLBP1

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    SwitchGear 3'UTR luciferase reporter plasmidRLBP1 3' UTR sequence
    Inhib. RNA
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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
    RLBP1_HUMAN, P12271: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    cytoskeleton2
    nucleus2
    extracellular1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005829cytosol TAS--
    GO:0044297cell body IEA--

    Find genes that share ontologies with RLBP1           About GenesLikeMe


    (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 RLBP1 About   (see all 6)  
    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
    Retinoid cycle disease events0.00
    3Signaling by GPCR
    Signal Transduction0.58
    4Vitamin A and carotenoid metabolism
    Vitamin A and carotenoid metabolism
    5Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods


    Find genes that share SuperPaths with RLBP1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RLBP1
        Visual Cycle in Retinal Rods

    2 BioSystems Pathways for RLBP1
        Vitamin A and carotenoid metabolism
    the visual cycle I (vertebrates)

    3 Reactome Pathways for RLBP1
        The retinoid cycle in cones (daylight vision)
    Retinoid cycle disease events
    The canonical retinoid cycle in rods (twilight vision)


        Pathway & Disease-focused RT2 Profiler PCR Array including RLBP1: 
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RLBP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RLBP1 (P122713 ENSP000002681254) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RDH5Q927813, ENSP000002578954I2D: score=2 STRING: ENSP00000257895
    SLC9A3R1O147453, ENSP000002626134I2D: score=1 STRING: ENSP00000262613
    RDH10ENSP000002402854STRING: ENSP00000240285
    RPE65ENSP000002623404STRING: ENSP00000262340
    EXOC4ENSP000002538614STRING: ENSP00000253861
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006776vitamin A metabolic process TAS9326942
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--

    Find genes that share ontologies with RLBP1           About GenesLikeMe



    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for RLBP1

    1 DrugBank Compound for RLBP1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--17652763 15928609 17251447 17014079

    10 Novoseek inferred chemical compound relationships for RLBP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11-cis-retinol 95.7 24 9694813 (2), 11301032 (1), 12536144 (1), 9736766 (1) (see all 14)
    retinaldehyde 92.5 22 7881758 (1), 11301032 (1), 12536144 (1), 1973655 (1) (see all 19)
    retinoid 73.1 25 9541407 (3), 9488687 (2), 12536149 (2), 9694813 (2) (see all 12)
    vitamin a 64.1 22 15865448 (3), 7916695 (1), 9326942 (1), 14718298 (1) (see all 11)
    retinoic acid 34.6 4 8387121 (1), 10800207 (1)
    alpha tocopherol 29.2 3 12767229 (1), 11707779 (1)
    glutamine 25.4 8 11239243 (3), 10619458 (2), 11867609 (2)
    phosphatidylinositol 19.8 2 1557404 (1), 12767229 (1)
    lipid 0 3 19390642 (2), 12767229 (1)
    glutamate 0 1 12786777 (1)



    Find genes that share compounds with RLBP1           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RLBP1 gene: 
    NM_000326.4  

    Unigene Cluster for RLBP1:

    Retinaldehyde binding protein 1
    Hs.1933  [show with all ESTs]
    Unigene Representative Sequence: NM_000326
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000268125(uc002bnl.3) ENST00000563254 ENST00000567787 ENST00000564388

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    Additional mRNA sequence: 

    AK312457.1 BC004199.2 DQ980611.1 J04213.1 

    5 DOTS entries:

    DT.97843377  DT.100751614  DT.92042558  DT.91719857  DT.97843375 

    Selected AceView cDNA sequences (see all 85):

    BM921294 BU155511 CA391503 CA398005 BG763831 BE409404 NM_000326 BU189560 
    BQ638358 BU193650 BQ640131 BM707806 BE275439 BE387922 BM707730 CA388623 
    BQ428208 AL711467 BC004199 BG764209 BM663177 BG218691 BG195210 BG197235 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RLBP1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b
    SP1:                                      -                                                                           
    SP2:                                -     -                       -     -                                             
    SP3:                                      -                                                                           
    SP4:                                                                                            -                     
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for RLBP1

    (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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    RLBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTACTTCACC
    RLBP1 Expression
    About this image


    RLBP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 6 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retinal pigmented epithelium cells
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     NULL (Sensory Organs)    fully expand to see all 3 entries
             Retinal pigmented epithelium cells
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Endothelial Cells Blood Brain Barrier
    RLBP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RLBP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1933

    UniProtKB/Swiss-Prot: RLBP1_HUMAN, P12271
    Tissue specificity: Retina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the
    adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina

        Pathway & Disease-focused RT2 Profiler PCR Array including RLBP1: 
              Terminal Differentiation Markers in human mouse rat

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    In Situ
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    (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 animals.

    Orthologs for RLBP1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rlbp11 , 5 retinaldehyde binding protein 11, 5 86.54(n)1
    90.54(a)1
      7 (45.00 cM)5
    197711  NM_020599.21  NP_065624.11 
     793748715 
    chicken
    (Gallus gallus)
    Aves RLBP11 retinaldehyde binding protein 1 77.11(n)
    78.16(a)
      415492  NM_001024694.1  NP_001019865.1 
    lizard
    (Anolis carolinensis)
    Reptilia RLBP16
    retinaldehyde binding protein 1
    79(a)
    1 ↔ 1
    GL343444.1(188033-195151)
    African clawed frog
    (Xenopus laevis)
    Amphibia rlbp1-prov2 retinaldehyde binding protein 1 78.25(n)    BC054209.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc730762 hypothetical protein MGC73076 73.95(n)   393678  BC059449.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59581 , 3 retinal binding3
    CG59581
    30(a)3
    49.04(n)1
    34.3(a)1
      27F63
    340221  NM_135275.31  NP_609119.21 


    ENSEMBL Gene Tree for RLBP1 (if available)
    TreeFam Gene Tree for RLBP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RLBP1 gene
    TTPAL2  CLVS22  CLVS12  TTPA2  
    5 SIMAP similar genes for RLBP1 using alignment to 3 protein entries:     RLBP1_HUMAN (see all proteins):
    CLVS1    CLVS2    DKFZp686E0870    TTPA    TTPAL

    Find genes that share paralogs with RLBP1           About GenesLikeMe



    (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 RLBP1 (see all 424)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289339891,2,4
    Retinitis pigmentosa autosomal recessive (ARRP)4--see VAR_0051402 mis40--------
    rs1378532911,2
    Cpathogenic169479886(-) GGACAA/TGCTCC 2 K M mis10--------
    rs107122671,2
    C--69477599(+) aaaaa-/A/AA  
            
    TGCAG
    1 -- ds50011NA 2
    rs780692321,2
    C--69477600(+) AAAAAA/TGCAGA 1 -- ds50010--------
    rs1428518931,2
    --69477629(+) ATCACC/TGTAAA 1 -- ds50010--------
    rs80388681,2
    C,F,H--69477641(+) TGCCTG/CAGAGT 1 -- ds500111Minor allele frequency- C:0.09NS EA NA WA CSA 686
    rs1143743381,2
    C,F--69477857(+) CACACG/ATCAGA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1924763561,2
    --69477912(+) TTCCAA/GGCCTC 1 -- ds50010--------
    rs1147036531,2
    C,F--69478003(+) ACATAT/CATCCT 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs1152750131,2
    C,F--69478041(+) TTGGGG/AGCGAA 1 -- ut311Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for RLBP1 (89753098 - 89764982 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RLBP1: --
    Human Gene Mutation Database (HGMD): RLBP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RLBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for RLBP1

    (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: 180090   
    OMIM disorders: 136880  607476  607475  
    UniProtKB/Swiss-Prot: RLBP1_HUMAN, P12271
  • Retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]: 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
  • Bothnia retinal dystrophy (BRD) [MIM:607475]: A type of retinitis punctata albescens. Affected
    individuals show night blindness from early childhood with features consistent with retinitis punctata albescens
    and macular degeneration. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Rod-cone dystrophy Newfoundland (NFRCD) [MIM:607476]: A rod-cone dystrophy reminiscent of retinitis
    punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression.
    Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Retinitis punctata albescens (RPA) [MIM:136880]: Rare form of stationary night blindness characterized by
    a delay in the regeneration of cone and rod photopigments. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 18 diseases for RLBP1:    
    About MalaCards
    rlbp1-related fundus albipunctatus    retinitis pigmentosa, autosomal recessive, bothnia type    bothnia retinal dystrophy    acute zonal occult outer retinopathy
    newfoundland rod-cone dystrophy    czech dysplasia    retinitis pigmentosa autosomal recessive    kniest dysplasia
    fundus albipunctatus    fundus flavimaculatus    ocular hypertension    cone dystrophy
    stickler syndrome    proliferative vitreoretinopathy    retinitis    retinitis pigmentosa
    age related macular degeneration    leber congenital amaurosis

    5 diseases from the University of Copenhagen DISEASES database for RLBP1:
    Retinitis     Retinitis pigmentosa     Fundus dystrophy     Macular degeneration
    Night blindness

    Find genes that share disorders with RLBP1           About GenesLikeMe

    6 Novoseek inferred disease relationships for RLBP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinitis 78.6 18 11262646 (3), 15953459 (3), 10102299 (2), 15234312 (2) (see all 8)
    retinitis pigmentosa 77.5 19 1973655 (2), 9326942 (2), 11176989 (2), 11262646 (2) (see all 11)
    retinal degeneration 65.4 4 10102299 (2)
    epiretinal membrane 49.9 1 2387681 (1)
    retinopathy 35.7 3 12972770 (1), 1733864 (1)
    blindness 32.6 2 12565814 (1)

    Genetic Association Database (GAD): RLBP1
    Human Genome Epidemiology (HuGE) Navigator: RLBP1 (2 documents)

    Export disorders for RLBP1 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 RLBP1 gene, integrated from 10 sources (see all 130):
    (articles sorted by number of sources associating them with RLBP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. (PubMed id 9326942)1, 2, 3, 9 Maw M.A.... Denton M.J. (Nat. Genet. 1997)
    2. Identification of the RLBP1 gene promoter. (PubMed id 17652763)1, 7, 9 Vogel J.S....Howard E.W. (amp 2007)
    3. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. (PubMed id 14718298)1, 4, 9 Fishman G.A....Dryja T.P. (Arch. Ophthalmol. 2004)
    4. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. (PubMed id 10102299)1, 2, 9 Morimura H.... Dryja T.P. (Invest. Ophthalmol. Vis. Sci. 1999)
    5. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. (PubMed id 11868161)1, 2, 9 Eichers E.R.... Katsanis N. (Am. J. Hum. Genet. 2002)
    6. Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. (PubMed id 9541407)1, 2, 9 Crabb J.W.... Bok D. (Protein Sci. 1998)
    7. Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7. (PubMed id 1733864)1, 3, 9 Sparkes R.S....Crabb J.W. (Genomics 1992)
    8. Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W. (PubMed id 19846785)1, 2, 9 He X.... Stocker A. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    9. Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. (PubMed id 7929238)1, 2, 9 Intres R.... Crabb J.W. (J. Biol. Chem. 1994)
    10. Bothnia dystrophy caused by mutations in the cellular retinaldehyde- binding protein gene (RLBP1) on chromosome 15q26. (PubMed id 10102298)1, 2, 9 Burstedt M.S.... Forsman-Semb K. (Invest. Ophthalmol. Vis. Sci. 1999)

    (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: 6017 HGNC: 10024 AceView: RLBP1 Ensembl:ENSG00000140522 euGenes: HUgn6017
    ECgene: RLBP1 H-InvDB: RLBP1

    (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)
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    NameDescription
    PharmGKB entry for RLBP1 Pharmacogenomics, SNPs, Pathways
    Mutations of the RLBP1 genehttp://www.retina-international.org/files/sci-news/cralbp.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RLBP1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RLBP1 gene:
    Search GeneIP for patents involving RLBP1

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



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