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

RDH14 Gene

protein-coding   GIFtS: 54
GCID: GC02M018735

Retinol Dehydrogenase 14 (All-Trans/9-Cis/11-Cis)

(Previous name: retinol dehydrogenase 14 (all-trans and 9-cis))
  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

Aliases
Retinol Dehydrogenase 14 (All-Trans/9-Cis/11-Cis)1 2     SDR7C42
Retinol Dehydrogenase 14 (All-Trans And 9-Cis)1 2     Pancreas Protein 22
Alcohol Dehydrogenase PAN22 3     Retinol Dehydrogenase 142
PAN22 3     Short Chain Dehydrogenase/Reductase Family 7C, Member 42
Member 41     EC 1.1.1.-3
Short Chain Dehydrogenase/Reductase Family 7C1     

External Ids:    HGNC: 199791   Entrez Gene: 576652   Ensembl: ENSG000002408577   UniProtKB: Q9HBH53   

Export aliases for RDH14 gene to outside databases

Previous GC identifers: GC02M018670 GC02M018703 GC02M018720 GC02M018658 GC02M018659 GC02M018600 GC02M018601


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

GeneCards Summary for RDH14 Gene: 
RDH14 (retinol dehydrogenase 14 (all-trans/9-cis/11-cis)) is a protein-coding gene. Diseases associated with RDH14 include alcoholism, and lateral sclerosis, and among its related super-pathways are adenosine nucleotides degradation II and Retinol metabolism. GO annotations related to this gene include oxidoreductase activity and nucleotide binding. An important paralog of this gene is ENSG00000258466.

UniProtKB/Swiss-Prot: RDH14_HUMAN, Q9HBH5
Function: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent
retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity
detected

Gene Wiki entry for RDH14 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_015926.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RDH14 gene promoter:
         NF-1   HSF1 (long)   FOXD3   E47   Roaz   POU2F1   CP2   c-Myb   IRF-7A   HSF1short   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRDH14 promoter sequence
   Search SABiosciences Chromatin IP Primers for RDH14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RDH14


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

Entrez Gene cytogenetic band: 2p24.2   Ensembl cytogenetic band:  2p24.2   HGNC cytogenetic band: 2p24.2

RDH14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RDH14 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M018735:  view genomic region     (about GC identifiers)

Start:
18,735,989 bp from pter      End:
18,741,959 bp from pter
Size:
5,971 bases      Orientation:
minus strand

(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: RDH14_HUMAN, Q9HBH5 (See protein sequence)
Recommended Name: Retinol dehydrogenase 14  
Size: 336 amino acids; 36865 Da

Explore the universe of human proteins at neXtProt for RDH14: NX_Q9HBH5

Explore proteomics data for RDH14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HBH5

  • RDH14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RDH14 Protein Expression
    REFSEQ proteins: NP_065956.1  
    ENSEMBL proteins: 
     ENSP00000370648  

    Human Recombinant Protein Products for RDH14: 
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    Cloud-Clone Corp. Proteins for RDH14 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005765lysosomal membrane IDA17897319
    GO:0005783endoplasmic reticulum IDA--

    RDH14 for ontologies           About GeneDecksing



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    (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 Q9HBH5

    ProtoNet protein and cluster: Q9HBH5

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: RDH14_HUMAN, Q9HBH5
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    RDH14 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: RDH14_HUMAN, Q9HBH5
    Function: Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent
    retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. No steroid dehydrogenase activity
    detected

         Enzyme Number (IUBMB): EC 1.1.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0016491oxidoreductase activity IEA--
    GO:0050662coenzyme binding ----
         
    RDH14 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RDH14:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    Inhib. RNA
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    (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 RDH14 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1purine nucleotides degradation II (aerobic)
    purine nucleotides degradation II (aerobic)0.67
    urate biosynthesis/inosine 5-phosphate degradation0.58
    adenosine nucleotides degradation II0.67
    2Retinol metabolism
    Retinol metabolism0.95
    3Nicotinate metabolism
    NAD salvage pathway II0.42
    4Visual Cycle in Retinal Rods
    Visual Cycle in Retinal Rods

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RDH14
        Retinol metabolism

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for RDH14
        Visual Cycle in Retinal Rods

    1 GeneGo (Thomson Reuters) Pathway for RDH14
        Retinol metabolism

    4 BioSystems Pathways for RDH14
        adenosine nucleotides degradation II
    NAD salvage pathway II
    urate biosynthesis/inosine 5-phosphate degradation
    purine nucleotides degradation II (aerobic)



    RDH14 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RDH14

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for RDH14 (ENSP000003706484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADAENSP000003619654STRING: ENSP00000361965
    ADAT3ENSP000003324484STRING: ENSP00000332448
    DDOSTENSP000003641884STRING: ENSP00000364188
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----
    GO:0044237cellular metabolic process ----

    RDH14 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RDH14

    1 HMDB Compound for RDH14    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    1 DrugBank Compound for RDH14    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about RDH14

    (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,
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    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

    REFSEQ mRNAs for RDH14 gene: 
    NM_020905.3  

    Unigene Cluster for RDH14:

    Retinol dehydrogenase 14 (all-trans/9-cis/11-cis)
    Hs.120319  [show with all ESTs]
    Unigene Representative Sequence: NM_020905
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381249(uc002rcx.4) ENST00000468071
    miRNA
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    hsa-miR-26a hsa-miR-26b hsa-miR-3692 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidRDH14 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF237952.1 AK314994.1 AY358511.1 BC009830.2 

    4 DOTS entries:

    DT.312418  DT.97839857  DT.91981067  DT.100746307 

    24/136 AceView cDNA sequences (see all 136):

    NM_001002006 BU608953 AI910921 AI383883 AK093234 AA926945 BU838555 CR619475 
    BX112465 BM142623 BC009830 AI085960 AK057444 AA774597 AA864535 BM678079 
    AK097848 N76631 AI623153 AI952491 CR597110 CR598421 AA224206 AI041525 

    GeneLoc Exon Structure


    (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

    RDH14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCAAAGTGT
    RDH14 Expression
    About this image


    See RDH14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RDH14

    SOURCE GeneReport for Unigene cluster: Hs.120319

    UniProtKB/Swiss-Prot: RDH14_HUMAN, Q9HBH5
    Tissue specificity: Expressed in brain, kidney, pancreas and placenta

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RDH14 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rdh141 , 5 retinol dehydrogenase 14 (all-trans and 9-cis)1, 5 85.99(n)1
    90.69(a)1
      12 (5.29 cM)5
    1050141  NM_023697.21  NP_076186.11 
     103907805 
    chicken
    (Gallus gallus)
    Aves RDH141 retinol dehydrogenase 14 (all-trans/9-cis/11-cis) 74.91(n)
    80.21(a)
      421953  XM_419965.3  XP_419965.3 
    lizard
    (Anolis carolinensis)
    Reptilia RDH146
    Uncharacterized protein
    79(a)
    1 ↔ 1
    1(153736433-153745014)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.168402 Transcribed sequence with moderate similarity to protein more 70.63(n)    BI983675.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG20656
    CG20646
    (see all 7)
    --
    47(a)
    46(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    2R(3551292-3552774)
    2R(3553338-3554848)


    ENSEMBL Gene Tree for RDH14 (if available)
    TreeFam Gene Tree for RDH14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RDH14 gene
    ENSG000002584662  DHRS122  WWOX2  DHRSX2  RDH122  DHRS132  RDH132  RDH112  
    7 SIMAP similar genes for RDH14 using alignment to 2 protein entries:     RDH14_HUMAN (see all proteins):
    RDH13    RDH11    RDH12    NT5C1B-RDH14    DHRS13    WWOX
    DHRSX

    RDH14 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
    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RDH14:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv2624CNV Insertion18451855
    esv2751837CNV Gain17911159

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    5 diseases for RDH14:    About MalaCards
    alcoholism    lateral sclerosis    amyotrophic lateral sclerosis    tuberculosis
    retinitis


    RDH14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RDH14
    Human Genome Epidemiology (HuGE) Navigator: RDH14 (1 document)

    Export disorders for RDH14 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 RDH14 gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with RDH14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PubMed id 12226107)1, 2, 3 Haeseleer F.... Palczewski K. (2002)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    6. Human pancreas protein 2 (PAN2) has a retinal reductase activity and is ubiquitously expressed in human tissues. (PubMed id 12435598)1, 9 Belyaeva O.V. and Kedishvili N.Y. (2002)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57665 HGNC: 19979 AceView: RDH14andNT5C1B Ensembl:ENSG00000240857 euGenes: HUgn57665
    ECgene: RDH14 H-InvDB: RDH14

    (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 RDH14 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RDH14 gene:
    Search GeneIP for patents involving RDH14

    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
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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