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DHRS3 Gene

protein-coding   GIFtS: 66
GCID: GC01M012627

Dehydrogenase/Reductase (SDR Family) Member 3

  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)
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Aliases
Dehydrogenase/Reductase (SDR Family) Member 31 2     SDR12
Retinal Short-Chain Dehydrogenase/Reductase 12 3     SDR16C12
DD83.12 3     Short Chain Dehydrogenase/Reductase Family 16C, Member 12
retSDR12 3     Short-Chain Dehydrogenase/Reductase 12
Member 11     Short-Chain Dehydrogenase/Reductase 32
Short Chain Dehydrogenase/Reductase Family 16C1     EC 1.1.1.3003
RDH172     RETSDR15
Rsdr12     EC 1.1.18

External Ids:    HGNC: 176931   Entrez Gene: 92492   Ensembl: ENSG000001624967   OMIM: 6128305   UniProtKB: O759113   

Export aliases for DHRS3 gene to outside databases

Previous GC identifers: GC01M012309 GC01M012562 GC01M012550 GC01M011781


(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 DHRS3 Gene:
Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of
substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 (PubMed 10800688)).(supplied by
OMIM, Jun 2009)

GeneCards Summary for DHRS3 Gene:
DHRS3 (dehydrogenase/reductase (SDR family) member 3) is a protein-coding gene. Diseases associated with DHRS3 include adult syndrome, and retinitis. GO annotations related to this gene include NADP-retinol dehydrogenase activity and nucleotide binding. An important paralog of this gene is HSD17B13.

UniProtKB/Swiss-Prot: DHRS3_HUMAN, O75911
Function: Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH

Gene Wiki entry for DHRS3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DHRS3 gene promoter:
         HNF-4alpha2   CUTL1   Arnt   HNF-4alpha1   GATA-1   CREB   deltaCREB   Sox9   Pax-4a   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDHRS3 promoter sequence
   Search Chromatin IP Primers for DHRS3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DHRS3


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

Entrez Gene cytogenetic band: 1p36.1   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.1

DHRS3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHRS3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M012627:  view genomic region     (about GC identifiers)

Start:
12,627,939 bp from pter      End:
12,677,820 bp from pter
Size:
49,882 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DHRS3_HUMAN, O75911 (See protein sequence)
Recommended Name: Short-chain dehydrogenase/reductase 3  
Size: 302 amino acids; 33548 Da
Miscellaneous: Located in a region of chromosome 1 which is often deleted in aggressive neuroblastoma tumors
Sequence caution: Sequence=AAQ88460.1; Type=Frameshift; Positions=15;
Secondary accessions: B2R7F3 Q5VUY3 Q6UY38 Q9BUC8
Alternative splicing: 2 isoforms:  O75911-1   O75911-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DHRS3: NX_O75911

Explore proteomics data for DHRS3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys32, Lys156
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for DHRS3 (O75911)
     TTKAFLP  TGGGRGIG 


    See DHRS3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004744.2  
    ENSEMBL proteins: 
     ENSP00000365397   ENSP00000387903  
    Reactome Protein details: O75911

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    Cloud-Clone Corp. CLIAs for DHRS3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC3: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3

    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 O75911

    ProtoNet protein and cluster: O75911

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


    UniProtKB/Swiss-Prot: DHRS3_HUMAN, O75911
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    DHRS3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHRS3_HUMAN, O75911
    Function: Catalyzes the reduction of all-trans-retinal to all-trans-retinol in the presence of NADPH
    Catalytic activity: All-trans-retinol + NADP(+) = all-trans-retinal + NADPH
    Induction: By retinoic acid

         Enzyme Numbers (IUBMB): EC 1.1.1.3001 EC 1.1.12

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding TAS9705317
    GO:0009055electron carrier activity TAS9705317
    GO:0016491oxidoreductase activity ----
    GO:0052650NADP-retinol dehydrogenase activity IEA--
         
    DHRS3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DHRS3:
     G0/1 arrest  Increased G1 DNA content 

         11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dhrs3):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  homeostasis/metabolism  mortality/aging  nervous system  skeleton 
     vision/eye 

    DHRS3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dhrs3tm1Lex for DHRS3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DHRS3
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    miRNA
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    miRTarBase miRNAs that target DHRS3:
    hsa-mir-92a-3p (MIRT049042), hsa-mir-335-5p (MIRT017134), hsa-mir-124-3p (MIRT022260)

    Block miRNA regulation of human, mouse, rat DHRS3 using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate DHRS3:
    hsa-miR-19b hsa-miR-518a-5p hsa-miR-618 hsa-miR-1914 hsa-miR-1910 hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidDHRS3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DHRS3

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DHRS3

    Cell Line
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    PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHRS3


    (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
    DHRS3_HUMAN, O75911: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0042622photoreceptor outer segment membrane TAS--

    DHRS3 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DHRS3 About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Diseases associated with visual transduction
    Visual phototransduction0.44
    The retinoid cycle in cones (daylight vision)0.00
    Diseases associated with visual transduction0.43
    2the visual cycle I (vertebrates)
    the visual cycle I (vertebrates)0.52
    retinol biosynthesis0.52
    3Signaling by GPCR
    Signal Transduction0.58
    4Metabolism
    Metabolic pathways0.38
    5Chemical carcinogenesis
    Retinol metabolism0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for DHRS3
        Retinol metabolism

    3 BioSystems Pathways for DHRS3
        Vitamin A and carotenoid metabolism
    the visual cycle I (vertebrates)
    retinol biosynthesis


    1 Reactome Pathway for DHRS3
        The retinoid cycle in cones (daylight vision)


    2 Kegg Pathways  (Kegg details for DHRS3):
        Retinol metabolism
    Metabolic pathways


    DHRS3 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DHRS3
    Interactions:

        Search GeneGlobe Interaction Network for DHRS3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for DHRS3 (ENSP000003653974) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALDH1A1ENSP000002977854STRING: ENSP00000297785
    ALDH1A2ENSP000002497504STRING: ENSP00000249750
    BCMO1ENSP000002581684STRING: ENSP00000258168
    CYP26A1ENSP000002243564STRING: ENSP00000224356
    DGAT1ENSP000003322584STRING: ENSP00000332258
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0007601visual perception TAS9705317
    GO:0007603phototransduction, visible light TAS--
    GO:0008152metabolic process ----
    GO:0009058biosynthetic process ----

    DHRS3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DHRS3

    1 HMDB Compound for DHRS3    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 DHRS3    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Vitamin A[11,12-3H]-Retinol (see all 18)68-26-8target--9705317 17139284 17016423 11861404 12697717



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DHRS3 gene: 
    NM_004753.5  

    Unigene Cluster for DHRS3:

    Dehydrogenase/reductase (SDR family) member 3
    Hs.289347  [show with all ESTs]
    Unigene Representative Sequence: NM_004753
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376223(uc001aub.3 uc001auc.3 uc009vnm.3 uc001aud.4)
    ENST00000464917 ENST00000430996(uc001aue.1) ENST00000482265
    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate DHRS3:
    hsa-miR-19b hsa-miR-518a-5p hsa-miR-618 hsa-miR-1914 hsa-miR-1910 hsa-miR-19a
    SwitchGear 3'UTR luciferase reporter plasmidDHRS3 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat DHRS3

    Additional mRNA sequence: 

    AF061741.1 AK222593.1 AK225057.1 AK310202.1 AK312961.1 AY358093.1 BC002730.2 BX648476.1 
    DQ426869.1 DQ426870.1 

    15 DOTS entries:

    DT.116686  DT.121457529  DT.95169023  DT.87015988  DT.99992650  DT.100792197  DT.40126786  DT.97840064 
    DT.100792195  DT.121457535  DT.97780193  DT.121457559  DT.95147431  DT.95251773  DT.92341536 

    Selected AceView cDNA sequences (see all 213):

    AI858402 BQ774353 BM449688 BX109506 BM707714 NM_004753 BP352743 AW316775 
    BF222140 CB127219 AA296589 CR594468 CR622920 BP381477 CR607120 CA390686 
    BQ002634 AW136967 BE672929 AA873322 BE673569 BI821495 BC002730 AA865912 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for DHRS3    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b
    SP1:              -     -     -           -                                             
    SP2:                                      -                                             
    SP3:                          -           -     -     -     -     -                     
    SP4:                          -           -                                             
    SP5:              -     -     -                                                         


    ECgene alternative splicing isoforms for DHRS3

    (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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    DHRS3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCTGCTGG
    DHRS3 Expression
    About this image


    DHRS3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Membranous Facial Bones
             HyStem+BMP4-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced E15 cells
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Rod Cells Outer Nuclear Layer
             Corneal Epithelium
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Pre-Granulosa Cells Primordial Follicle
             Oviduct
    DHRS3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DHRS3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.289347

    UniProtKB/Swiss-Prot: DHRS3_HUMAN, O75911
    Tissue specificity: Widely expressed with highest levels found in heart, placenta, lung, liver, kidney, pancreas,
    thyroid, testis, stomach, trachea and spinal cord. Lower levels found in skeletal muscle, intestine and lymph
    node. No expression detected in brain. In the retina, expressed in cone but not rod outer segments

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHRS3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for DHRS3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dhrs31 , 5 dehydrogenase/reductase (SDR family) member 31, 5 88.19(n)1
    95.03(a)1
      4 (78.14 cM)5
    201481  NM_011303.61  NP_035433.11 
     1448928275 
    chicken
    (Gallus gallus)
    Aves DHRS31 dehydrogenase/reductase (SDR family) member 3 80.57(n)
    90.07(a)
      419480  NM_001277910.1  NP_001264839.1 
    lizard
    (Anolis carolinensis)
    Reptilia DHRS36
    dehydrogenase/reductase (SDR family) member 3
    85(a)
    1 ↔ 1
    GL344449.1(3473-10902)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.133602 Xenopus laevis transcribed sequence with weak similarity to protein refNP_057329.1 (H.sapiens) retinal short-chain dehydrogenase/reductase retSDR2 [Homo sapiens] less 79.82(n)    CD303238.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc04h122 Transcribed sequence with weak similarity to protein refNP_057329.1 (H.sapiens) retinal short-chain dehydrogenase/reductase retSDR2 [Homo sapiens] less 77.89(n)    CF996802.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG156296
    CG149466
    (see all 6)
    --
    31(a)
    28(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    2L(4813009-4815891)
    2L(12063523-12066772)
    worm
    (Caenorhabditis elegans)
    Secernentea dhs-296
    Protein DHS-29 (dhs-29) mRNA, complete cds
    18(a)
    many ↔ many
    X(7661902-7664914) WBGene00000992
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes --
    TDA56
    Putative protein of unknown function with similari...
    Putative protein of unknown function; detected in ...
    21(a)
    20(a)
    many ↔ many
    many ↔ many
    IV(255604-256530) YDL114W
    XII(987062-988113) YLR426W


    ENSEMBL Gene Tree for DHRS3 (if available)
    TreeFam Gene Tree for DHRS3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DHRS3 gene
    HSD17B132  RDH102  HSD17B112  SDR16C52  
    5 SIMAP similar genes for DHRS3 using alignment to 3 protein entries:     DHRS3_HUMAN (see all proteins):
    HSD17B11    RDH10    HSD17B13    SDR16C5    DHRS7

    DHRS3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DHRS3 (see all 1141)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs111219381,2
    C,F,H--12627479(+) GTGATC/GCTTTC 1 -- int116Minor allele frequency- G:0.05NS EA NA WA 1738
    rs1509957591,2
    --12627522(+) TTCTTC/TTCAGC 1 -- int10--------
    rs111219391,2
    C,F--12627574(+) TGGGTG/ACTCCA 1 -- int11Minor allele frequency- A:0.08WA 118
    rs49977111,2
    C,F,H--12627680(+) GACTGG/TTTCAT 1 -- int127Minor allele frequency- T:0.38NS EA NA WA CSA 2768
    rs1865361871,2
    C--12627687(+) TCATAA/GAGGTC 1 -- int10--------
    rs1395568301,2
    C--12627723(+) ACCCAC/TGGCTG 1 -- int10--------
    rs43857211,2
    C,F,A,H--12627763(+) AACCCG/AGCACC 1 -- int126Minor allele frequency- A:0.37NS EA NA WA 2644
    rs1454831661,2
    --12627917(+) GCCCAC/TGGAAG 1 -- int10--------
    rs1476839321,2
    C--12627990(+) GTTTGC/TGCAAG 1 -- ut310--------
    rs774802731,2
    C--12628067(+) TATGCA/CCACTG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for DHRS3 (12627939 - 12677820 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DHRS3 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521737CNV Loss19592680
    nsv466172CNV Loss19166990
    nsv871052CNV Loss21882294
    nsv466283CNV Gain19166990
    nsv870867CNV Gain21882294
    nsv517848CNV Gain19592680
    dgv145n71CNV Gain21882294
    nsv428410CNV Gain+Loss18775914
    essv17144CNV CNV17122850
    dgv21e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DHRS3
    DNA2.0 Custom Variant and Variant Library Synthesis for DHRS3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612830    OMIM disorders: --

    10 diseases for DHRS3:    
    About MalaCards
    adult syndrome    retinitis    papillary thyroid carcinoma    thyroiditis
    neuroblastoma    tonsillitis    tuberculosis    cerebritis
    endotheliitis    prostatitis


    DHRS3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): DHRS3
    Human Genome Epidemiology (HuGE) Navigator: DHRS3 (1 document)

    Export disorders for DHRS3 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 DHRS3 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with DHRS3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of a novel short-chain dehydrogenase/reductase that reduces all-trans-retinal. (PubMed id 9705317)1, 2, 3, 7, 9 Haeseleer F.... Palczewski K. (J. Biol. Chem. 1998)
    2. retSDR1, a short-chain retinol dehydrogenase/reductase, is retinoic acid-inducible and frequently deleted in human neuroblastoma cell lines. (PubMed id 11861404)1, 2, 7 Cerignoli F....Giannini G. (Cancer Res. 2002)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. 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. (Genome Res. 2004)
    7. 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. (Genome Res. 2003)
    8. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. (PubMed id 12226107)1, 3 Haeseleer F.... Palczewski K. (J. Biol. Chem. 2002)
    9. p53-Inducible DHRS3 is an endoplasmic reticulum protein associated with lipid droplet accumulation. (PubMed id 21659514)1 Deisenroth C....Zhang Y. (J. Biol. Chem. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 9249 HGNC: 17693 AceView: DHRS3 Ensembl:ENSG00000162496 euGenes: HUgn9249
    ECgene: DHRS3 Kegg: 9249 H-InvDB: DHRS3

    (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 DHRS3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DHRS3 gene:
    Search GeneIP for patents involving DHRS3

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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