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RDH5 Gene

protein-coding   GIFtS: 69
GCID: GC12P056132

Retinol Dehydrogenase 5 (11-Cis/9-Cis)

(Previous name: retinol dehydrogenase 5 (11-cis and 9-cis))
(Previous symbol: RDH1)
  See RDH5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Retinol Dehydrogenase 5 (11-Cis/9-Cis)1 2     11-Cis Retinol Dehydrogenase2
RDH11 2 3     9-Cis-Retinol Specific Dehydrogenase2
Retinol Dehydrogenase 5 (11-Cis And 9-Cis)1 2     HSD17B92
11-Cis RDH2 3     SDR9C52
11-Cis RoDH2 3     Retinol Dehydrogenase 12
9-Cis Retinol Dehydrogenase2 3     Short Chain Dehydrogenase/Reductase Family 9C, Member 52
9cRDH2 3     EC 1.1.1.3153
Member 51     EC 1.1.18
Short Chain Dehydrogenase/Reductase Family 9C1     EC 1.1.1.1058

External Ids:    HGNC: 99401   Entrez Gene: 59592   Ensembl: ENSG000001354377   OMIM: 6016175   UniProtKB: Q927813   

Export aliases for RDH5 gene to outside databases

Previous GC identifers: GC12P056038 GC12P056187 GC12P055830 GC12P054400 GC12P056115 GC12P053152 GC12P056121


(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 RDH5 Gene:
This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol
dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the
universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus,
a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod
photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also
exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1,
subunit 1) gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for RDH5 Gene:
RDH5 (retinol dehydrogenase 5 (11-cis/9-cis)) is a protein-coding gene. Diseases associated with RDH5 include rdh5-related fundus albipunctatus, and fundus albipunctatus. GO annotations related to this gene include retinol dehydrogenase activity. An important paralog of this gene is SDR9C7.

UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781
Function: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of
11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and
13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of
NADP

Gene Wiki entry for RDH5 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_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the RDH5 gene promoter:
         E2F-4   E2F-3a   E2F-5   C/EBPbeta   E2F-2   CREB   E2F   E2F-1   deltaCREB   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for RDH5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RDH5


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

Entrez Gene cytogenetic band: 12q13-q14   Ensembl cytogenetic band:  12q13.2   HGNC cytogenetic band: 12q13-q14

RDH5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RDH5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P056132:  view genomic region     (about GC identifiers)

Start:
56,114,151 bp from pter      End:
56,118,526 bp from pter
Size:
4,376 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for RDH5

(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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781 (See protein sequence)
Recommended Name: 11-cis retinol dehydrogenase precursor  
Size: 318 amino acids; 34979 Da
Subunit: Homodimer
Secondary accessions: O00179 Q8TAI2

Explore the universe of human proteins at neXtProt for RDH5: NX_Q92781

Explore proteomics data for RDH5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn160
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for RDH5 (Q92781)
     GLVNNAG  TGCDSGFG  EAFSDSLRR 


    See RDH5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186700.1  NP_002896.2  

    ENSEMBL proteins: 
     ENSP00000449927   ENSP00000448014   ENSP00000257895   ENSP00000447128   ENSP00000447513  
    Reactome Protein details: Q92781

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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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    HGNC Gene Families:
    SDRC2: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2

    3 InterPro protein domains:
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q92781

    ProtoNet protein and cluster: Q92781

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Find genes that share domains with RDH5           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: RDH1_HUMAN, Q92781
    Function: Stereospecific 11-cis retinol dehydrogenase, which catalyzes the final step in the biosynthesis of
    11-cis retinaldehyde, the universal chromophore of visual pigments. Also able to oxidize 9-cis-retinol and
    13-cis-retinol, but not all-trans-retinol. Active in the presence of NAD as cofactor but not in the presence of
    NADP
    Catalytic activity: 11-cis-retinol-[retinal-binding-protein] + NAD(+) = 11-cis-retinal-[retinol-binding-protein] +
    NADH
    Enzyme regulation: Inhibited by 9-cis-, 13-cis- and all-trans-retinoic acids, with the most potent inhibitor being
    13-cis-retinoic acid. Weakly inhibited by oleic acid
    Biophysicochemical properties: pH dependence: Optimum pH is 7.5-8.0 for 9-cis retinol dehydrogenase activity;

         Genatlas biochemistry entry for RDH5:
    retinol dehydrogenase 5,11-cis,expressed in retinal pigment epithelium,formerly RDH1

         Enzyme Numbers (IUBMB): EC 1.1.1.3151 EC 1.1.12 EC 1.1.1.1052

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004745retinol dehydrogenase activity TAS9115228
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with RDH5           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Rdh5):
     vision/eye 

    Find genes that share phenotypes with RDH5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RDH5: Rdh5tm1Wsb Rdh5tm1Drie

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RDH5
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    hsa-miR-34b* hsa-miR-544 hsa-miR-1911* hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidRDH5 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
    RDH1_HUMAN, Q92781: Membrane; Peripheral membrane protein. Endoplasmic reticulum lumen
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    lysosome1
    mitochondrion1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005788endoplasmic reticulum lumen IEA--
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0044297cell body IEA--

    Find genes that share ontologies with RDH5           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 RDH5 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


    Find genes that share SuperPaths with RDH5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for RDH5
        Visual Cycle in Retinal Rods

    1 GeneGo (Thomson Reuters) Pathway for RDH5
        Retinol metabolism

    4 BioSystems Pathways for RDH5
        Vitamin A and carotenoid metabolism
    Visual signal transduction- Cones
    Visual signal transduction- Rods
    the visual cycle I (vertebrates)

    1 Reactome Pathway for RDH5
        The canonical retinoid cycle in rods (twilight vision)


    1 Kegg Pathway  (Kegg details for RDH5):
        Retinol metabolism

    UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781
    Pathway: Cofactor metabolism; retinol metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RDH5
    Interactions:

        Search GeneGlobe Interaction Network for RDH5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for RDH5 (Q927813 ENSP000002578954) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RGRP478043, ENSP000003524274I2D: score=1 STRING: ENSP00000352427
    RLBP1P122713, ENSP000002681254I2D: score=2 STRING: ENSP00000268125
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    ALDH1A2ENSP000002497504STRING: ENSP00000249750
    DGAT1ENSP000003322584STRING: ENSP00000332258
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0007601visual perception IEA--
    GO:0007603phototransduction, visible light TAS--
    GO:0008152metabolic process ----
    GO:0042572retinol metabolic process IEA--

    Find genes that share ontologies with RDH5           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RDH5 (RDH1)

    7 HMDB Compounds for RDH5    About this table
    CompoundSynonyms CAS #PubMed Ids
    11-cis-Retinaldehyde11-cis-retinal (see all 2)564-87-4--
    11-cis-Retinolcis-11-Retinol (see all 2)22737-96-8--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    Retinal3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-Nonatetraenal (see all 19)116-31-4--
    Vitamin A(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol (see all 7)68-26-8--

    2 DrugBank Compounds for RDH5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--16860536 17435174 17608724 16837774 16566595
    NADHbeta-DPNH (see all 18)606-68-8target--17608724

    3 Novoseek inferred chemical compound relationships for RDH5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    11-cis-retinol 90.2 8 12536149 (2), 11675386 (1), 11153648 (1), 14718298 (1)
    vitamin a 73.8 18 11078833 (1), 15302662 (1), 10369264 (1), 11812441 (1) (see all 15)
    retinoid 61.5 3 15190067 (1), 12536149 (1)



    Find genes that share compounds with RDH5           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 RDH5 gene (2 alternative transcripts): 
    NM_001199771.1  NM_002905.3  

    Unigene Cluster for RDH5:

    Retinol dehydrogenase 5 (11-cis/9-cis)
    Hs.600940  [show with all ESTs]
    Unigene Representative Sequence: NM_001199771
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000553160 ENST00000547072 ENST00000552930 ENST00000553187 ENST00000548486
    ENST00000257895(uc001shk.3 uc001shl.3) ENST00000550608(uc010spt.1 uc010spu.1)
    ENST00000548082 ENST00000547301 ENST00000548123 ENST00000551444
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    Additional mRNA sequence: 

    BC028298.1 DQ426887.1 NR_037658.1 U43559.1 U89717.1 

    15 DOTS entries:

    DT.114901  DT.114899  DT.121147377  DT.97800295  DT.97784049  DT.121147408  DT.95341250  DT.121147453 
    DT.92417478  DT.101967375  DT.91987881  DT.121147475  DT.100059454  DT.91745975  DT.91745982 

    Selected AceView cDNA sequences (see all 362):

    AV656796 BI833731 BX089398 AI688827 AJ572524 BM693268 CB110130 BF195132 
    CB110146 AA156462 CB111158 BF725471 CB109312 AA554732 AI668983 AK096656 
    BM741085 CB111353 AA342696 AA355270 CB109306 BM811067 AA256871 AI815962 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for RDH5    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5
    SP1:                    -                             -         
    SP2:                    -                             -         
    SP3:                    -     -                                 
    SP4:                          -     -     -     -               


    ECgene alternative splicing isoforms for RDH5

    (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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    RDH5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGACTGC
    RDH5 Expression
    About this image


    RDH5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Epithelial Cells
             Mature Choroid Plexus Cells Choroid Plexus
     
     Spinal Cord (Nervous System)
    RDH5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RDH5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.600940

    UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781
    Tissue specificity: Abundant in the retinal pigment epithelium. Expressed at high levels in mammary tissue, kidney
    and testis, and at lower levels in liver, heart, adrenal gland, lung, pancreas and skeletal muscle

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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 chordates.

    Orthologs for RDH5 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rdh51 , 5 retinol dehydrogenase 51, 5 86.06(n)1
    86.62(a)1
      10 (77.19 cM)5
    196821  NM_134006.41  NP_598767.11 
     1289135935 
    chicken
    (Gallus gallus)
    Aves RDH51 retinol dehydrogenase 5 (11-cis/9-cis) 69.34(n)
    66.56(a)
      395452  NM_204713.1  NP_990044.1 
    lizard
    (Anolis carolinensis)
    Reptilia RDH56
    retinol dehydrogenase 5 (11-cis/9-cis)
    61(a)
    1 ↔ 1
    GL343198.1(1891627-1905319)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.263382 Xenopus laevis transcribed sequence with weak similarity more 76.31(n)    CF549424.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rdh51 retinol dehydrogenase 5 (11-cis/9-cis) 57.62(n)
    55.67(a)
      556528  NM_001030101.1  NP_001025272.1 


    ENSEMBL Gene Tree for RDH5 (if available)
    TreeFam Gene Tree for RDH5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RDH5 gene
    SDR9C72  DHRS92  HSD11B22  HSD17B62  HSD17B22  BDH12  RDH162  RDH82  
    DHRS7B2  DHRS72  HSD17B12  KDSR2  DHRS7C2  
    8 SIMAP similar genes for RDH5 using alignment to 4 protein entries:     RDH1_HUMAN (see all proteins):
    RDHL    RDH16    SDR9C7    DHRS9    HSD17B6    BDH1
    HSD17B2    HSD11B2

    Find genes that share paralogs with RDH5           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 RDH5 (see all 193)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs626381871,2,,4
    Retinitis punctata albescens (RPA)4 --55949351(+) AGCGGA/GTGCTG 4 M V mis10--------
    rs626381911,2,,4
    CRetinitis punctata albescens (RPA)4 pathogenic155951607(+) ACTATA/G/TGGGGG 4 G W mis11EU 1117
    VAR_0168154
    Retinitis punctata albescens (RPA)4--see VAR_0168152 G R mis40--------
    VAR_0687174
    Retinitis punctata albescens (RPA)4--see VAR_0687172 D N mis40--------
    VAR_0168174
    Retinitis punctata albescens (RPA)4--see VAR_0168172 V F mis40--------
    VAR_0168144
    Retinitis punctata albescens (RPA)4--see VAR_0168142 G S mis40--------
    VAR_0092734
    Retinitis punctata albescens (RPA)4--see VAR_0092732 S F mis40--------
    VAR_0168194
    Retinitis punctata albescens (RPA)4--see VAR_0168192 C W mis40--------
    VAR_0168204
    Retinitis punctata albescens (RPA)4--see VAR_0168202 R H mis40--------
    VAR_0168224
    Retinitis punctata albescens (RPA)4--see VAR_0168222 A P mis40--------

    HapMap Linkage Disequilibrium report for RDH5 (56114151 - 56118526 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for RDH5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469410CNV Loss19166990
    nsv525231CNV Loss19592680
    nsv832423CNV Gain17160897

    Human Gene Mutation Database (HGMD): RDH5
    Locus Specific Mutation Databases (LSDB): RDH5

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    (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: 601617   
    OMIM disorders: 136880  
    UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781
  • 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

  • 4 diseases for RDH5:    
    About MalaCards
    rdh5-related fundus albipunctatus    fundus albipunctatus    refractive error    fundus dystrophy

    4 diseases from the University of Copenhagen DISEASES database for RDH5:
    Fundus dystrophy     Night blindness     Retinitis     Retinitis pigmentosa

    Find genes that share disorders with RDH5           About GenesLikeMe

    8 Novoseek inferred disease relationships for RDH5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    progressive cone dystrophy 88.3 3 11448328 (1), 12906118 (1), 11053295 (1)
    night blindness 86.4 9 16637847 (2), 11078833 (1), 11675386 (1), 12906118 (1) (see all 8)
    night blindness, congenital stationary 84.8 2 10617778 (1)
    oguchis disease 80.5 1 15584351 (1)
    retinitis 68.3 1 10369264 (1)
    retinitis pigmentosa 61.8 5 18363170 (2), 15007239 (2), 10369264 (1)
    retinal degeneration 52.3 5 11448328 (2), 10845614 (1)
    retinopathy 31.4 2 12972770 (1), 10369264 (1)

    Genatlas disease: RDH5
    fundus albipunctatus,both autosomal recessive and autosomal dominant,characterized by numerous small subretinal
    white spots,normal retinal vessels but delayed dark adaptation

    Genetic Association Database (GAD): RDH5
    Human Genome Epidemiology (HuGE) Navigator: RDH5 (2 documents)

    Export disorders for RDH5 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 RDH5 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with RDH5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. (PubMed id 11053295)1, 2, 4, 9 Nakamura M.... Miyake Y. (Invest. Ophthalmol. Vis. Sci. 2000)
    2. Biochemical defects in 11-cis-retinol dehydrogenase mutants associated with fundus albipunctatus. (PubMed id 11675386)1, 2, 4, 9 Liden M.... Eriksson U. (J. Biol. Chem. 2001)
    3. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus. (PubMed id 11470705)1, 2, 4 Driessen C.A.... Janssen J.J. (Ophthalmology 2001)
    4. Identification and characterization of a stereospecific human enzyme that catalyzes 9-cis-retinol oxidation. A possible role in 9-cis- retinoic acid formation. (PubMed id 9115228)1, 2, 3 Mertz J.R....Blaner W.S. (J. Biol. Chem. 1997)
    5. Primary structure of human 11-cis retinol dehydrogenase and organization and chromosomal localization of the corresponding gene. (PubMed id 8884265)1, 2, 3 Simon A.... Eriksson U. (Genomics 1996)
    6. A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus. (PubMed id 11078852)1, 2, 9 Kuroiwa S.... Yoshimura N. (Am. J. Ophthalmol. 2000)
    7. 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus. (PubMed id 10617778)1, 2, 9 Gonzalez-Fernandez F.... Khani S.C. (Mol. Vis. 1999)
    8. Macular dystrophy in a Japanese family with fundus albipunctatus. (PubMed id 12788147)1, 2, 9 Hotta K....Hida T. (Am. J. Ophthalmol. 2003)
    9. A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots. (PubMed id 12967826)1, 2, 9 Yamamoto H....Negi A. (Am. J. Ophthalmol. 2003)
    10. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. (PubMed id 10369264)1, 2, 9 Yamamoto H....Dryja T.P. (Nat. Genet. 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: 5959 HGNC: 9940 AceView: BLOC1S1andRDH5 Ensembl:ENSG00000135437 euGenes: HUgn5959
    ECgene: RDH5 Kegg: 5959 H-InvDB: RDH5

    (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 RDH5 Pharmacogenomics, SNPs, Pathways
    Mutations of the RDH5 genehttp://www.retina-international.org/files/sci-news/rdh5mut.htm

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RDH5 gene:
    Search GeneIP for patents involving RDH5

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



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