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RPE65 Gene

protein-coding   GIFtS: 65
GCID: GC01M068894

Retinal Pigment Epithelium-Specific Protein 65kDa

(Previous name: retinal pigment epithelium-specific protein (65kD))
(Previous symbol: RP20)
Microbiology & Infectious Diseases Congress
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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
Retinal Pigment Epithelium-Specific Protein 65kDa1 2     p632
All-Trans-Retinyl-Palmitate Hydrolase1 2 3     RBP-Binding Membrane Protein2
Retinol Isomerase1 2 3     rd122
RP201 2 5     Retinitis Pigmentosa 20 (Autosomal Recessive)2
Retinal Pigment Epithelium-Specific 65 KDa Protein2 3     Retinoid Isomerohydrolase2
LCA22 5     sRPE652
Retinal Pigment Epithelium-Specific Protein (65kD)1     EC 3.1.1.643
mRPE652     

External Ids:    HGNC: 102941   Entrez Gene: 61212   Ensembl: ENSG000001167457   OMIM: 1800695   UniProtKB: Q165183   

Export aliases for RPE65 gene to outside databases

Previous GC identifers: GC01M069028 GC01M067812 GC01M068252 GC01M068264 GC01M068606 GC01M068667 GC01M067004


(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 RPE65 Gene:
This gene encodes a protein which is located in the retinal pigment epithelium and is involved in the production
of 11-cis retinal and in visual pigment regeneration. There are two forms of this protein, a soluble form called
sRPE65, and a palmitoylated, membrane-bound form known as mRPE65. mRPE65 serves as the palmitoyl donor for
lecithin retinol acyl transferase (LRAT), the enzyme that catalyzes the vitamin A to all trans retinol step of
the chromophore regeneration process. Both mRPE65 and sRPE65 also serve as regulatory proteins, with the ratio
and concentrations of these molecules playing a role in the inhibition of 11-cis retinal synthesis. Mutations in
this gene have been associated with Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa. (provided
by RefSeq, Jul 2008)

GeneCards Summary for RPE65 Gene:
RPE65 (retinal pigment epithelium-specific protein 65kDa) is a protein-coding gene. Diseases associated with RPE65 include rpe65-related retinitis pigmentosa, and rpe65-related leber congenital amaurosis. GO annotations related to this gene include all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity and retinal isomerase activity. An important paralog of this gene is BCO2.

UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518
Function: Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. The
soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl
ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH
(isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl
groups onto 11-cis-retinol, a reaction catalyzed by LRAT. The enzymatic activity is linearly dependent of the
expression levels and membrane association

Gene Wiki entry for RPE65 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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPE65 gene promoter:
         Nkx3-1   Nkx3-1 v4   Nkx3-1 v1   NF-E2 p45   NF-AT   Nkx3-1 v2   NF-AT2   Nkx3-1 v3   NF-E2   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPE65 promoter sequence
   Search Chromatin IP Primers for RPE65

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPE65


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

Entrez Gene cytogenetic band: 1p31   Ensembl cytogenetic band:  1p31.2   HGNC cytogenetic band: 1p31

RPE65 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPE65 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M068894:  view genomic region     (about GC identifiers)

Start:
68,894,505 bp from pter      End:
68,915,642 bp from pter
Size:
21,138 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518 (See protein sequence)
Recommended Name: Retinoid isomerohydrolase  
Size: 533 amino acids; 60948 Da
Cofactor: Binds 1 Fe(2+) ion per subunit (By similarity)
Subunit: Interacts with MYO7A; this mediates light-dependent intracellular transport of RPE65
Secondary accessions: A8K1L0 Q5T9U3

Explore the universe of human proteins at neXtProt for RPE65: NX_Q16518

Explore proteomics data for RPE65 at MOPED

Post-translational modifications: 

  • Palmitoylation by LRAT regulates ligand binding specificity; the palmitoylated form (membrane form) specifically
    binds all-trans-retinyl-palmitate, while the soluble unpalmitoylated form binds all-trans-retinol (vitamin A) (By
    similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RPE65 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000320.1  
    ENSEMBL proteins: 
     ENSP00000262340  
    Reactome Protein details: Q16518

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    Cloud-Clone Corp. CLIAs for RPE65


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR004294 Carotenoid_Oase

    Graphical View of Domain Structure for InterPro Entry Q16518

    ProtoNet protein and cluster: Q16518

    UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518
    Similarity: Belongs to the carotenoid oxygenase family


    RPE65 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: RPE65_HUMAN, Q16518
    Function: Plays important roles in the production of 11-cis retinal and in visual pigment regeneration. The
    soluble form binds vitamin A (all-trans-retinol), making it available for LRAT processing to all-trans-retinyl
    ester. The membrane form, palmitoylated by LRAT, binds all-trans-retinyl esters, making them available for IMH
    (isomerohydrolase) processing to all-cis-retinol. The soluble form is regenerated by transferring its palmitoyl
    groups onto 11-cis-retinol, a reaction catalyzed by LRAT. The enzymatic activity is linearly dependent of the
    expression levels and membrane association
    Catalytic activity: An all-trans-retinyl ester + H(2)O = 11-cis-retinol + a fatty acid

         Genatlas biochemistry entry for RPE65:
    retinal pigment epithelium-specific 65,major microsomal protein,minor role in the isomerisation of all-trans to
    11-cis retinal,61kDa,associated with the endoplasmic reticulum,also expressed in renal tumor cells

         Enzyme Number (IUBMB): EC 3.1.1.641

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004744retinal isomerase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0052884all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity IEA--
    GO:0052885all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity IEA--
         
    RPE65 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Rpe65):
     behavior/neurological  homeostasis/metabolism  nervous system  other  pigmentation 
     vision/eye 

    RPE65 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rpe65tm1Tmr for RPE65

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPE65
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RPE65
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RPE65

    miRNA
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    hsa-mir-335-5p (MIRT018146), hsa-mir-32-5p (MIRT028349)

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    6 qRT-PCR Assays for microRNAs that regulate RPE65:
    hsa-miR-3607-3p hsa-miR-374b hsa-miR-2276 hsa-miR-545 hsa-miR-374a hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidRPE65 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RPE65

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPE65


    (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
    RPE65_HUMAN, Q16518: Cytoplasm (By similarity). Cell membrane; Lipid-anchor (By similarity). Microsome membrane
    (By similarity). Note=Attached to the membrane by a lipid anchor when palmitoylated (membrane form), soluble when
    unpalmitoylated (By similarity). Undergoes light-dependent intracellular transport to become more concentrated in
    the central region of the retina pigment epithelium cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum3
    cytosol2
    extracellular2
    nucleus2
    peroxisome2
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IEA--
    GO:0005886plasma membrane TAS--
    GO:0031090organelle membrane IEA--

    RPE65 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 RPE65 About   (see all 9)  
    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
    2The phototransduction cascade
    Visual signal transduction- Rods0.51
    Visual signal transduction- Cones0.39
    3Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    4Signaling by GPCR
    Signal Transduction0.58
    5Chemical carcinogenesis
    Retinol metabolism0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RPE65
        Visual Cycle in Retinal Rods

    1 GeneGo (Thomson Reuters) Pathway for RPE65
        Retinol metabolism

    4 BioSystems Pathways for RPE65
        Vitamin A and carotenoid metabolism
    Visual signal transduction- Cones
    Visual signal transduction- Rods
    the visual cycle I (vertebrates)

    1 Reactome Pathway for RPE65
        The canonical retinoid cycle in rods (twilight vision)


    1 Kegg Pathway  (Kegg details for RPE65):
        Retinol metabolism


    RPE65 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPE65
    Interactions:

        GeneGlobe Interaction Network for RPE65

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for RPE65 (Q165183 ENSP000002623404) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC27A1Q6PCB73, ENSP000002525954I2D: score=1 STRING: ENSP00000252595
    RBP4P027533, ENSP000003605194I2D: score=1 STRING: ENSP00000360519
    DGAT1ENSP000003322584STRING: ENSP00000332258
    LRATENSP000003372244STRING: ENSP00000337224
    RDH10ENSP000002402854STRING: ENSP00000240285
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0006776vitamin A metabolic process TAS9326941
    GO:0007468regulation of rhodopsin gene expression IEA--
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--

    RPE65 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 RPE65

    1 HMDB Compound for RPE65    About this table
    CompoundSynonyms CAS #PubMed Ids
    Retinyl esterall-trans-Retinyl ester ----

    9 Novoseek inferred chemical compound relationships for RPE65 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11-cis-retinol 86.4 6 9862453 (2), 19892706 (1), 16519528 (1), 19049981 (1)
    retinoid 77.6 34 18722466 (3), 18809924 (2), 10386590 (2), 14611939 (1) (see all 20)
    retinyl ester 75.9 8 16116091 (1), 17123547 (1), 18216020 (1), 14529294 (1) (see all 6)
    vitamin a 70.1 45 15009723 (5), 9862453 (2), 15288992 (2), 16116091 (2) (see all 21)
    retinoic acid 25.6 8 12910240 (4), 14611939 (1)
    hematoxylin 1.89 1 17069678 (1)
    vegf 1.41 3 16971894 (1), 16598467 (1), 11818403 (1)
    lipid 0 1 19892706 (1)
    alanine 0 6 16198348 (1), 17122102 (1), 19049981 (1)



    RPE65 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,
    Conferences by KenesGroup, 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 RPE65 gene: 
    NM_000329.2  

    Unigene Cluster for RPE65:

    Retinal pigment epithelium-specific protein 65kDa
    Hs.2133  [show with all ESTs]
    Unigene Representative Sequence: U18991
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000262340(uc001dei.1)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    6 qRT-PCR Assays for microRNAs that regulate RPE65:
    hsa-miR-3607-3p hsa-miR-374b hsa-miR-2276 hsa-miR-545 hsa-miR-374a hsa-miR-548aa
    SwitchGear 3'UTR luciferase reporter plasmidRPE65 3' UTR sequence
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    Additional mRNA sequence: 

    AK289925.1 BC075035.2 BC075036.2 U18991.1 

    1 DOTS entry:

    DT.205701 

    20 AceView cDNA sequences:

    BM929818 CA393174 CA397132 BC075036 BX279594 BM711385 BC075035 BM728042 
    BP360146 BX954093 NM_000329 BF337111 BM716590 U18991 BE762826 BU738143 
    BQ186418 BM718135 BE936336 AW293397 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RPE65    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:              -                                                                                       
    SP2:                                -                                                                     


    ECgene alternative splicing isoforms for RPE65

    (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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    RPE65 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATAAGGCT
    RPE65 Expression
    About this image


    RPE65 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 11 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Anterior neural specified EBs
     
     NULL (Sensory Organs)    fully expand to see all 7 entries
             Retinal pigmented epithelium cells
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    RPE65 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPE65 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.2133

    UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518
    Tissue specificity: Retinal pigment epithelium specific

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPE65

    (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 RPE65 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rpe651 , 5 retinal pigment epithelium 651, 5 89.93(n)1
    93.62(a)1
      3 (82.52 cM)5
    198921  NM_029987.21  NP_084263.21 
     1595992335 
    chicken
    (Gallus gallus)
    Aves RPE651 retinal pigment epithelium-specific protein 65kDa 79.24(n)
    90.06(a)
      395700  NM_204884.1  NP_990215.1 
    lizard
    (Anolis carolinensis)
    Reptilia RPE656
    retinal pigment epithelium-specific protein 65kDa
    87(a)
    1 ↔ 1
    GL343328.1(436533-450889)
    African clawed frog
    (Xenopus laevis)
    Amphibia rpe65-prov2 retinal pigment epithelium-specific protein 65kDa 77.79(n)    BC043751.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc732132 retinal pigment epithelium abundant protein RPE65 75.79(n)   393724  BC059559.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RPE653 beta-carotene 15,15'-dioxygenase 38(a)   87F11   --
    worm
    (Caenorhabditis elegans)
    Secernentea F53C3.123   -- 33(a)
    (best of 2)
      II(3908542-3910958)   --


    ENSEMBL Gene Tree for RPE65 (if available)
    TreeFam Gene Tree for RPE65 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPE65 gene
    BCO22  ENSG000002727902  BCMO12  
    3 SIMAP similar genes for RPE65 using alignment to 5 protein entries:     RPE65_HUMAN (see all proteins):
    BCMO1    BCO2    BCDO2

    RPE65 for paralogs           About GeneDecksing



    (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 RPE65 (see all 649)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs346270401,2,,4
    C,FLeber congenital amaurosis 2 (LCA2)4 untested168969034(-) ATATGC/TGTATG 2 A V mis15Minor allele frequency- T:0.03NA WA 4738
    rs1499161781,2,,4
    C,FLeber congenital amaurosis 2 (LCA2)4 --68976692(+) AACCCA/CTTGTC 2 K N mis12Minor allele frequency- C:0.00NA EU 5845
    rs617529011,2,,4
    CRetinitis pigmentosa 20 (RP20)4 untested168976774(-) TGACAA/CAAAAA 2 K T mis11Minor allele frequency- C:0.00EU 1231
    VAR_0171294
    Leber congenital amaurosis 2 (LCA2)4--see VAR_0171292 H Y mis40--------
    VAR_0608094
    Retinitis pigmentosa 20 (RP20)4--see VAR_0608092 Y H mis40--------
    VAR_0608204
    Leber congenital amaurosis 2 (LCA2)4--see VAR_0608202 Y C mis40--------
    VAR_0608164
    Retinitis pigmentosa 20 (RP20)4--see VAR_0608162 Y D mis40--------
    VAR_0376194
    Retinitis pigmentosa 20 (RP20)4--see VAR_0376192 R W mis40--------
    VAR_0171384
    Leber congenital amaurosis 2 (LCA2)4--see VAR_0171382 P T mis40--------
    VAR_0181514
    Leber congenital amaurosis 2 (LCA2)4--see VAR_0181512 Y C mis40--------

    HapMap Linkage Disequilibrium report for RPE65 (68894505 - 68915642 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RPE65: --
    Human Gene Mutation Database (HGMD): RPE65
    Locus Specific Mutation Databases (LSDB): RPE65

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPE65
    DNA2.0 Custom Variant and Variant Library Synthesis for RPE65

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 180069   
    OMIM disorders: 204100  613794  
    UniProtKB/Swiss-Prot: RPE65_HUMAN, Q16518
  • Leber congenital amaurosis 2 (LCA2) [MIM:204100]: A severe dystrophy of the retina, typically becoming
    evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish
    or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Retinitis pigmentosa 20 (RP20) [MIM:613794]: 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
  • Note=Defects in RPE65 are a cause of autosomal dominant retinitis pigmentosa with choroidal involvement
    (PubMed:21654732). Affected individuals show reduction of central vision, constriction of visual fields, night
    blindness and chorioretinal atrophy

  • Selected diseases for RPE65 (see all 38):    
    About MalaCards
    rpe65-related retinitis pigmentosa    rpe65-related leber congenital amaurosis    severe early-childhood-onset retinal dystrophy    thymic hyperplasia
    leber congenital amaurosis 2    retinitis pigmentosa 20    choroideremia    retinitis
    aipl1-related leber congenital amaurosis    leber congenital amaurosis    pigmentary retinopathy    fundus albipunctatus
    retinal disease    chorioretinitis    retinitis pigmentosa    night blindness
    leber congenital amaurosis 17    congenital stationary night blindness    blindness    rhyns syndrome

    4 diseases from the University of Copenhagen DISEASES database for RPE65:
    Leber congenital amaurosis     Fundus dystrophy     Retinal degeneration     Blindness

    RPE65 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for RPE65 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lebers congenital amaurosis 98 53 17032058 (3), 14962443 (2), 16828753 (2), 18539930 (2) (see all 42)
    retinal degeneration 82.4 16 11095629 (3), 11727200 (1), 16374319 (1), 9501877 (1) (see all 14)
    retinitis pigmentosa 82.1 21 11139690 (2), 10937591 (2), 16272259 (2), 10527670 (1) (see all 18)
    retinopathy 70.6 6 18837956 (3), 19373675 (1), 9326941 (1), 16030131 (1)
    blindness 69.5 17 17594175 (2), 14611946 (2), 18809924 (1), 19373675 (1) (see all 12)
    night blindness, congenital stationary 67 3 9808841 (2), 10937591 (1)
    cone-rod dystrophy 66.8 2 10527670 (1), 18722466 (1)
    visual impairment 60.8 3 19339306 (1), 10937591 (1), 15765048 (1)
    night blindness 52.5 1 17011878 (1)
    visual loss 35.9 3 14962443 (1), 11035546 (1), 20079931 (1)

    GeneTests: RPE65
    GeneReviews: RPE65
    Genetic Association Database (GAD): RPE65
    Human Genome Epidemiology (HuGE) Navigator: RPE65 (5 documents)

    Export disorders for RPE65 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 RPE65 gene, integrated from 10 sources (see all 200):
    (articles sorted by number of sources associating them with RPE65)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. (PubMed id 17724218)1, 2, 4, 9 Simonelli F.... Banfi S. (Invest. Ophthalmol. Vis. Sci. 2007)
    2. Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65. (PubMed id 19049981)1, 2, 9 Takahashi Y.... Ma J.X. (J. Biol. Chem. 2009)
    3. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. (PubMed id 9326941)1, 2, 9 Gu S.M.... Gal A. (Nat. Genet. 1997)
    4. Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (PubMed id 18484312)1, 4, 9 Mamatha G.... Kumaramanickavel G. (Ophthalmic Genet. 2008)
    5. Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium. (PubMed id 16198348)1, 2, 9 Takahashi Y.... Ma J.X. (FEBS Lett. 2005)
    6. Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations. (PubMed id 14962443)1, 2, 9 Al-Khayer K....Traboulsi E.I. (Am. J. Ophthalmol. 2004)
    7. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. (PubMed id 10766140)1, 2, 9 Lotery A.J....Stone E.M. (Arch. Ophthalmol. 2000)
    8. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. (PubMed id 11462243)1, 2, 9 Simovich M.J.... Pittler S.J. (Hum. Mutat. 2001)
    9. Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. (PubMed id 9801879)1, 2, 9 Marlhens F....Hamel C.P. (Eur. J. Hum. Genet. 1998)
    10. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis. (PubMed id 9501220)1, 2, 9 Morimura H....Dryja T.P. (Proc. Natl. Acad. Sci. U.S.A. 1998)

    (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: 6121 HGNC: 10294 AceView: RPE65 Ensembl:ENSG00000116745 euGenes: HUgn6121
    ECgene: RPE65 Kegg: 6121 H-InvDB: RPE65

    (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 RPE65 Pharmacogenomics, SNPs, Pathways
    Mutations of the RPE65 genehttp://www.retina-international.org/files/sci-news/rpe65mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RPE65[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 RPE65 gene:
    Search GeneIP for patents involving RPE65

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



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