Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

RDH5 Gene

protein-coding   GIFtS: 69
GCID: GC12P056121

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

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

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 4

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   
ORGUL members:    fRNAdb10:FR407658      
H-InvDB12:HIT000391930    
NCBI13:DQ426887    
NONCODE14:n410515 n410513 n410514 n410516      

Export aliases for RDH5 gene to outside databases

Previous GC identifers: GC12P056038 GC12P056187 GC12P055830 GC12P054400 GC12P056115 GC12P053152


(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 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, and is affiliated with the lncRNA class. Diseases associated with RDH5 include fundus albipunctatus, and rdh5-related fundus albipunctatus, and among its related super-pathways are the visual cycle I (vertebrates) and The phototransduction cascade. GO annotations related to this gene include retinol dehydrogenase activity and nucleotide binding. 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

fRNAdb sequence ontology for RDH5:
ncRNA - An RNA transcript that does not encode for a protein rather the RNA molecule is the gene product.

View fRNAdb secondary structures for RDH5

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RDH5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC12P056121:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RDH1_HUMAN, Q92781 (See protein sequence)
Recommended Name: 11-cis retinol dehydrogenase precursor  
Size: 318 amino acids; 34979 Da
Subunit: Homodimer
Subcellular location: Membrane; Peripheral membrane protein. Endoplasmic reticulum lumen
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92781

  • 3 DME Specific Peptides for RDH5 (Q92781)
     GLVNNAG  TGCDSGFG  EAFSDSLRR 

    RDH5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RDH5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001186700.1  NP_002896.2  

    ENSEMBL proteins: 
     ENSP00000449927   ENSP00000448014   ENSP00000257895   ENSP00000447128   ENSP00000447513  
    Reactome Protein details: Q92781
    Human Recombinant Protein Products for RDH5: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for RDH5
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for RDH5
    GenScript Custom Purified and Recombinant Proteins Services for RDH5
    Novus Biologicals RDH5 Protein
    Novus Biologicals RDH5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RDH5 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    RDH5 for ontologies           About GeneDecksing



    RDH5 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for RDH5
    GenScript Custom Superior Antibodies Services for RDH5
    Novus Biologicals RDH5 Antibodies
    Abcam antibodies for RDH5
    Cloud-Clone Corp. Antibodies for RDH5 
    ThermoFisher Antibodies for RDH5
    LSBio Antibodies in human, mouse, rat for RDH5 

    Assay Products for RDH5: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RDH5
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RDH5
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RDH5 
    Cloud-Clone Corp. CLIAs for RDH5


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    RDH5 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004745retinol dehydrogenase activity TAS9115228
    GO:0016491oxidoreductase activity ----
         
    RDH5 for ontologies           About GeneDecksing


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

    RDH5 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RDH5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RDH5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RDH5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RDH5 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RDH5
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate RDH5:
    hsa-miR-34b* hsa-miR-544 hsa-miR-1911* hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidRDH5 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RDH5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RDH5

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RDH5
    Sirion Biotech Customized adenovirus for overexpression of RDH5

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for RDH5 (see all 6)
    OriGene ORF clones in mouse, rat for RDH5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RDH5 (NM_002905)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RDH5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RDH5
    Sirion Biotech Customized lentivirus for stable overexpression of RDH5 
                         Customized lentivirus expression plasmids for stable overexpression of RDH5 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RDH5
    Search LifeMap BioReagents cell lines for RDH5
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RDH5


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    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)0.50
    2Visual signal transduction- Rods
    Visual signal transduction- Rods0.54
    Visual signal transduction- Cones0.39
    3Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    4Retinol metabolism
    Retinol metabolism0.95
    5Signaling by GPCR
    Signal Transduction0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RDH5
        Retinol metabolism

    1 Downloadable PowerPoint Slide of QIAGEN 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- Rods
    Visual signal transduction- Cones
    the visual cycle I (vertebrates)

    5        Reactome Pathways for RDH5
        Diseases associated with visual transduction
    Signal Transduction
    The canonical retinoid cycle in rods (twilight vision)
    Visual phototransduction
    Disease


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

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


    RDH5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RDH5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for RDH5 (Q927813 ENSP000002578954) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    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 (GO ID links to tree view):    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--

    RDH5 for ontologies           About GeneDecksing



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

    RDH5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about RDH5 / RDH1

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    1 fRNAdb Secondary structure:


    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
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RDH5
    4 QIAGEN miScript miRNA Assays for microRNAs that regulate RDH5:
    hsa-miR-34b* hsa-miR-544 hsa-miR-1911* hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidRDH5 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for RDH5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RDH5
    Clone
    Products:
         
    OriGene clones in human, mouse for RDH5 (see all 6)
    OriGene ORF clones in mouse, rat for RDH5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RDH5 (NM_002905)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RDH5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RDH5
    Sirion Biotech Customized lentivirus for stable overexpression of RDH5 
                         Customized lentivirus expression plasmids for stable overexpression of RDH5 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for RDH5
    OriGene qSTAR qPCR primer pairs in human, mouse for RDH5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RDH5
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RDH5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RDH5

    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 

    24/362 AceView cDNA sequences (see all 362):

    CB109194 BM784121 CB110177 BM811067 AI815962 AI738699 BM693268 AJ572524 
    BX089398 AA505578 CB109252 CB109785 CB110778 BQ009269 BU902579 CB110130 
    CB110255 AA554732 AA502606 BM773050 F31883 AI688827 BF195132 BM741085 

    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™, 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

    RDH5 expression in normal human tissues (normalized intensities)      RDH5 embryonic expression: see
    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 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Mature Choroid Plexus Cells Choroid Plexus
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             adipose tissue   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Spinal Cord (Nervous System)

    See RDH5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RDH5

    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

        SABiosciences Custom PCR Arrays for RDH5
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for RDH5
    OriGene qSTAR qPCR primer pairs in human, mouse for RDH5
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RDH5
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RDH5
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RDH5
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RDH5

    (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 chordates.

    Orthologs for RDH5 gene from 5/12 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 86.44(n)1
    87.38(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) 68.66(n)
    66.25(a)
      395452  NM_204713.1  NP_990044.1 
    lizard
    (Anolis carolinensis)
    Reptilia RDH56
    Uncharacterized protein
    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) 57.39(n)
    54.37(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)
    About This Section
    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

    RDH5 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) 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

    10/193 SNPs in RDH5 are shown (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
    ----------
    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--------
    VAR_0687164
    Retinitis punctata albescens (RPA)4--see VAR_0687162 L I mis40--------
    VAR_0687184
    Retinitis punctata albescens (RPA)4--see VAR_0687182 R W 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RDH5
    DNA2.0 Custom Variant and Variant Library Synthesis for RDH5

    (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.)
    About This Section
    OMIM gene information: 601617OMIM information:   
    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

  • 15 diseases for RDH5:    About MalaCards
    fundus albipunctatus    rdh5-related fundus albipunctatus    blindness    night blindness
    congenital stationary night blindness    fundus dystrophy    retinal disease    fatty liver disease
    retinal degeneration    retinitis pigmentosa    liver disease    retinitis
    diabetes mellitus    tuberculosis    alcoholism

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

    RDH5 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for RDH5 gene, integrated from 9 sources (see all 72):
    (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. (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. (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. (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. (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. (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. (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. (1999)
    8. Macular dystrophy in a Japanese family with fundus albipunctatus. (PubMed id 12788147)1, 2, 9 Hotta K....Hida T. (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. (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. (1999)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5959 HGNC: 9940 AceView: BLOC1S1andRDH5 Ensembl:ENSG00000135437 euGenes: HUgn5959
    ECgene: RDH5 Kegg: 5959 H-InvDB: RDH5

    (According to HUGE)
    About This Section
      --

    (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 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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for RDH5  
     OriGene qPCR primer pairs and template standards for RDH5   OriGene Protein Over-expression Lysate for RDH5  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RDH5  
     OriGene qSTAR qPCR primer pairs in human, mouse for RDH5   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for RDH5   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RDH5   OriGene Custom Protein Services for RDH5  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RDH5
     QIAGEN SeqTarget long-range PCR primers for resequencing RDH5
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RDH5
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RDH5
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RDH5
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RDH5
     GenScript Custom Purified and Recombinant Proteins Services for RDH5 GenScript cDNA clones with any tag delivered in your preferred vector for RDH5
     GenScript Custom Assay Services for RDH5 GenScript Custom Superior Antibodies Services for RDH5
     GenScript Custom overexpressing Cell Line Services for RDH5 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in RDH5 promoter
     Search Chromatin IP Primers for RDH5
     RT2 qPCR Primer Assay in human, mouse, rat RDH5
     Search GNC Networks for RDH5
     SABiosciences PCR Arrays including human, mouse, rat RDH5
     Search Tocris compounds for RDH5 (RDH1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     RDH5 antibodies
     RDH5 proteins
     RDH5 lysates
     Antibodies for RDH5
     See all of Abcam's Antibodies, Kits and Proteins for RDH5
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for RDH5
     Antibodies for RDH5
     ELISAs for RDH5
     CLIAs for RDH5
     Search LifeMap BioReagents cell lines for RDH5
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RDH5
     SwitchGear 3'UTR luciferase reporter plasmids for RDH5
     Browse SwitchGear Promoter luciferase reporter plasmids for RDH5
     ThermoFisher Antibodies for RDH5
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RDH5
     inGenious Targeting Laboratory - Custom generated mouse model solutions for RDH5
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RDH5
    Customized:
     lentivirus for stable overexpression of RDH5
     lentivirus expression plasmids for stable overexpression of RDH5
     adenovirus for overexpression of RDH5
     LSBio Antibodies in human, mouse, rat for RDH5
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RDH5 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4