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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RLBP1 Gene

protein-coding   GIFtS: 62
GCID: GC15M089753

retinaldehyde binding protein 1

(Previous name: retinaldehyde-binding protein 1 )
 Explore 31 diseases affiliated with
RLBP1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RLBP1    

Aliases
for RLBP1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Retinaldehyde Binding Protein 11 2
CRALBP1 2 3
Retinaldehyde-Binding Protein 11 2
Cellular Retinaldehyde-Binding Protein2 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


Summaries
for RLBP1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RLBP1:
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)

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)


Genomic Views
for RLBP1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   SABiosciences 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 plasmid: RLBP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RLBP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for RLBP1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: RLBP1_HUMAN, P12271 (See protein sequence)
Recommended Name: Retinaldehyde-binding protein 1  
Size: 317 amino acids; 36474 Da
Subcellular location: Cytoplasm
4 PDB 3D structures from and Proteopedia for RLBP1:
1XGG (3D)        1XGH (3D)        3HX3 (3D)        3HY5 (3D)    
Secondary accessions: B2R667

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P12271

    • RLBP1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000317.1  
    ENSEMBL proteins: 
     ENSP00000268125   ENSP00000454740   ENSP00000457251  
    Reactome Protein details: P12271
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    Novus Biologicals RLBP1 Protein
    Novus Biologicals RLBP1 Lysates
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    Uscn Proteins for RLBP1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005625soluble fraction ----
    GO:0005737cytoplasm IEA--
    GO:0044297cell body IEA--


    RLBP1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RLBP1

    Protein Domains /
    Families
    for RLBP1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RLBP1 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P12271

    ProtoNet protein and cluster: P12271

    2 Blocks protein families:
    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


    Function
    for RLBP1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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'

         Genatlas biochemistry entry for RLBP1:
    retinaldehyde binding protein,cellular

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RLBP1
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate RLBP1:
    hsa-miR-520d-5p hsa-miR-3150b-3p hsa-miR-524-5p hsa-miR-606
    SwitchGear 3'UTR luciferase reporter plasmid: RLBP1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity IEA--
    GO:0005488binding ----
    GO:000550211-cis retinal binding IEA--
    GO:0019841retinol binding IEA--


    RLBP1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Rlbp1tm1Jsa for RLBP1
         4 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rlbp1):
     integument  nervous system  pigmentation  vision/eye 

    RLBP1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RLBP1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Defective OPN1LW causes CBP
    		Defective OPN1LW causes CBP1.00
    		Defective OPN1MW causes DCB and BCM0.50
    		Defective OPN1LW causes BCM1.00
    		The retinoid cycle in cones (daylight vision)0.50
    		Defective OPN1MW causes COD50.50
    		Retinoid cycle disease events0.33
    		Defective OPN1SW causes tritanopia0.50
    211cRAL (RPE) translocates to photoreceptor outer segment
    		11cRAL (RPE) translocates to photoreceptor outer segment1.00
    		11cRDH oxidises 11cROL to 11cRAL0.50
    		An atROL isomerase isomerises atROL to 11cROL0.50
    		Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPA0.50
    3the visual cycle I (vertebrates)
    		the visual cycle I (vertebrates)1.00
    		The canonical retinoid cycle in rods (twilight vision)0.50
    4Retinoid metabolism and transport
    		Visual phototransduction0.74
    		Diseases associated with visual transduction0.73
    5Disease
    		Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN 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)

    5/16        Reactome Pathways for RLBP1 (see all 16)
        Diseases associated with visual transduction
    The retinoid cycle in cones (daylight vision)
    Retinoid cycle disease events
    The canonical retinoid cycle in rods (twilight vision)
    Defective OPN1LW causes CBP



    RLBP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RLBP1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

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

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006776vitamin A metabolic process TAS9326942
    GO:0007601visual perception IEA--
    GO:0050896response to stimulus IEA--


    RLBP1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RLBP1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RLBP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about RLBP1 

    Transcripts
    for RLBP1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    hsa-miR-520d-5p hsa-miR-3150b-3p hsa-miR-524-5p hsa-miR-606
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

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

    5 DOTS entries:

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

    24/85 AceView cDNA sequences (see all 85):

    BM707806 BM921294 BU155511 CA388623 BE387922 AL711467 BU189560 BQ428208 
    NM_000326 CA398005 CA391503 BM707730 BE409404 BQ640131 BE275439 BU193650 
    BG763831 BQ638358 BG207594 BM694859 BQ640629 BF940774 BE349146 BM693922 

    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

    Expression
    for RLBP1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RLBP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTACTTCACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RLBP1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Muller Glia CellsMuller Glia, Retina
    EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium CellsRetinal Pigmented Epithelium
    BoneZeugopod Epiphyseal EndBone
    BoneZeugopod Growth PlateBone
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Neural TubeTelencephalonNeural Tube
    Spinal CordPresumptive Spinal CordSpinal Cord
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Retinal cells (Generation of retina...)
    Pigmented epithelium cell monolayers (Direct differentiati...)

    See RLBP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RLBP1

    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

        SABiosciences Expression via Pathway-Focused PCR Array including RLBP1: 
              Terminal Differentiation Markers in human mouse rat

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    In Situ
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    Orthologs
    for RLBP1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for RLBP1 gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves RLBP11 retinaldehyde binding protein 1 77.25(n)
    78.41(a)    		   415492  NM_001024694.1  NP_001019865.1 
    lizard
    (Anolis carolinensis)    		 Reptilia RLBP16
    		 --
    		 79(a)
    		 1 ↔ 1
    		 GL343444.1(188906-195151)
    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
    48.04(n)1
    32.39(a)1    		   27F63
    340221  NM_135275.21  NP_609119.21 


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

    Paralogs
    for RLBP1 gene

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

    RLBP1 for paralogs           About GeneDecksing



    Genomic Variants
    for RLBP1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/351 NCBI SNPs in RLBP1 are shown (see all 351)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1378532911,2
    		Cpathogenic65866934(-) GGACAA/TGCTCC 2 K M mis10--------
    rs80388681,2
    		C,F,H,--65864689(+) TGCCTG/CAGAGT 1 -- ds500111Minor allele frequency- C:0.09NS EA NA WA CSA 686
    rs1152750131,2
    		C,F,--65865089(+) TTGGGG/AGCGAA 1 -- ut311Minor allele frequency- A:0.03WA 118
    rs1902369761,2
    		C,--65865113(+) TAACCC/TGGGCT 1 -- ut310--------
    rs80397871,2
    		C,F,H,--65865147(+) AAGTCG/ATAAAA 1 -- ut31 ese314Minor allele frequency- A:0.13NA NS EA WA 1448
    rs80257191,2
    		C,F,H,--65865227(+) CTGTCT/GTAAAG 1 -- ut3115Minor allele frequency- G:0.07NS EA NA CSA WA 1359
    rs118560131,2
    		C,F,H,--65865741(+) CCTGGC/TGACAC 1 -- int110Minor allele frequency- T:0.05NS EA NA WA CSA 548
    rs727626281,2
    		C,--65866169(+) NNNNGG/ACTCAC 1 -- int12Minor allele frequency- A:0.05NA 122
    rs740299591,2
    		C,--65866294(+) TTTTGG/CTGAGT 1 -- int11Minor allele frequency- C:0.50WA 2
    rs1129900541,2
    		F,--65866342(+) CTATTA/GCAAAC 1 -- int13Minor allele frequency- G:0.07CSA WA 123

    HapMap Linkage Disequilibrium report for RLBP1 (89753098 - 89764982 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for RLBP1: --
    Human Gene Mutation Database (HGMD): RLBP1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RLBP1
    DNA2.0 Custom Variant and Variant Library Synthesis for RLBP1

    Disorders / Diseases
    for RLBP1 gene

    (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.)
    About This Section
    RLBP1 for disorders           About GeneDecksing

    OMIM gene information: 180090   
    OMIM disorders: 136880  607476  607475  
    UniProtKB/Swiss-Prot: RLBP1_HUMAN, P12271
  • Defects in RLBP1 are a cause of retinitis pigmentosa autosomal recessive (ARRP) [MIM:268000]. RP leads to
    • degeneration of retinal photoreceptor cells. 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
  • Defects in RLBP1 are the cause of Bothnia retinal dystrophy (BRD) [MIM:607475]; also known as Vasterbotten
    • dystrophy. Affected individuals show night blindness from early childhood with features consistent with retinitis
    punctata albescens and macular degeneration
  • Defects in RLBP1 are the cause of rod-cone dystrophy Newfoundland (NFRCD) [MIM:607476]. NFRCD is a retinal
    • 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
  • Defects in RLBP1 are a cause of retinitis punctata albescens (RPA) [MIM:136880]. A rare form of stationary
    • night blindness characterized by a delay in the regeneration of cone and rod photopigments

    20/31 diseases for RLBP1 (see all 31):    About MalaCards
    retinitis punctata albescens    cone dystrophy    retinitis pigmentosa    newfoundland rod-cone dystrophy
    retinitis    retinol binding protein    fundus flavimaculatus    age related macular degeneration
    bothnia retinal dystrophy    fundus albipunctatus    retinitis pigmentosa 4    proliferative vitreoretinopathy
    macular degeneration    night blindness    fundus dystrophy    retinal degeneration
    retinal detachment    vitreoretinopathy    ocular hypertension    blindness

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

    6 Novoseek 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

    Publications
    for RLBP1 gene

    (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)
    About This Section

    PubMed articles for RLBP1 gene, integrated from 9 sources (see all 127):
    (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. (1997)
    2. Identification of the RLBP1 gene promoter. (PubMed id 17652763)1, 7, 9 Vogel J.S....Howard E.W. (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. (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. (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. (2002)
    6. Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. (PubMed id 9541407)1, 2, 9 Crabb J.W.... Bok D. (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. (1992)
    8. Bothnia dystrophy is caused by domino-like rearrangem ents in cellular retinaldehyde-binding protein mutant R234W. (PubMed id 19846785)1, 2, 9 He X....Stocker 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. (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. (1999)

    External Searches for RLBP1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing RLBP1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6017 HGNC: 10024 AceView: RLBP1 Ensembl:ENSG00000140522 euGenes: HUgn6017
    ECgene: RLBP1 H-InvDB: RLBP1

    Other Databases showing RLBP1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RLBP1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/RLBP1

    Intellectual Property
    for RLBP1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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