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    DHRS3 dehydrogenase/reductase 3 [ Homo sapiens (human) ]

    Gene ID: 9249, updated on 11-Apr-2024

    Summary

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    Official Symbol
    DHRS3provided by HGNC
    Official Full Name
    dehydrogenase/reductase 3provided by HGNC
    Primary source
    HGNC:HGNC:17693
    See related
    Ensembl:ENSG00000162496 MIM:612830; AllianceGenome:HGNC:17693
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SDR1; RDH17; Rsdr1; DD83.1; SDR16C1; retSDR1; CNALPTC1
    Summary
    Predicted to enable NAD-retinol dehydrogenase activity. Predicted to be involved in regulation of retinoic acid receptor signaling pathway and retinoid metabolic process. Predicted to act upstream of or within several processes, including animal organ morphogenesis; negative regulation of retinoic acid receptor signaling pathway; and regulation of ossification. Predicted to be located in endoplasmic reticulum membrane and photoreceptor outer segment membrane. Predicted to be active in lipid droplet. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver (RPKM 41.2), fat (RPKM 39.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12567910..12618210, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (12112042..12164110, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (12627939..12678216, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 13 homolog D Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_247 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12568463-12568964 Neighboring gene small nucleolar RNA, H/ACA box 59A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12600378-12601026 Neighboring gene Sharpr-MPRA regulatory region 4366 Neighboring gene long intergenic non-protein coding RNA 2766 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12608056-12608563 Neighboring gene Sharpr-MPRA regulatory region 1458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12612066-12613020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12613021-12613973 Neighboring gene Sharpr-MPRA regulatory region 5682 Neighboring gene RNA, U6atac small nuclear 18, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:12652795-12653294 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12663043-12663228 Neighboring gene Sharpr-MPRA regulatory region 11784 Neighboring gene microRNA 6730 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:12677840-12678472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12678473-12679104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:12679105-12679736 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12679972-12680223 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:12736484-12736819 Neighboring gene arylacetamide deacetylase like 4 Neighboring gene uncharacterized LOC124903846 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:12763477-12764676

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The retinal dehydrogenase/reductase retSDR1/DHRS3 gene is activated by p53 and p63 but not by mutants derived from tumors or EEC/ADULT malformation syndromes. Kirschner RD, et al. Cell Cycle, 2010 Jun 1. PMID 20543567
    2. retSDR1, a short-chain retinol dehydrogenase/reductase, is retinoic acid-inducible and frequently deleted in human neuroblastoma cell lines. Cerignoli F, et al. Cancer Res, 2002 Feb 15. PMID 11861404
    3. Inhibition of retinoic acid receptor α phosphorylation represses the progression of triple-negative breast cancer via transactivating miR-3074-5p to target DHRS3. Lou S, et al. J Exp Clin Cancer Res, 2021 Apr 26. PMID 33902658, Free PMC Article
    4. The antagonistically bifunctional retinoid oxidoreductase complex is required for maintenance of all-trans-retinoic acid homeostasis. Belyaeva OV, et al. J Biol Chem, 2017 Apr 7. PMID 28232491, Free PMC Article
    5. CircDHRS3 inhibits prostate cancer cell proliferation and metastasis through the circDHRS3/miR-421/MEIS2 axis. Dai X, et al. Epigenetics, 2023 Dec. PMID 36840946, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CircDHRS3 inhibits prostate cancer cell proliferation and metastasis through the circDHRS3/miR-421/MEIS2 axis.
      Title: CircDHRS3 inhibits prostate cancer cell proliferation and metastasis through the circDHRS3/miR-421/MEIS2 axis.
    2. Inhibition of retinoic acid receptor alpha phosphorylation represses the progression of triple-negative breast cancer via transactivating miR-3074-5p to target DHRS3.
      Title: Inhibition of retinoic acid receptor α phosphorylation represses the progression of triple-negative breast cancer via transactivating miR-3074-5p to target DHRS3.
    3. Yap targets Dhrs3, to reduce retinoic acid synthesis and inhibit cardiac fibroblast differentiation during development.
      Title: Hippo Signaling Plays an Essential Role in Cell State Transitions during Cardiac Fibroblast Development.
    4. Mouse Dhrs3 plays critical roles in the development of the heart by controlling the formation of retinoic acid.
      Title: Retinoic acid signaling promotes the cytoskeletal rearrangement of embryonic epicardial cells.
    5. The retinaldehyde reductase DHRS3 is essential for preventing the formation of excess retinoic acid during mouse embryonic development
      Title: The retinaldehyde reductase DHRS3 is essential for preventing the formation of excess retinoic acid during embryonic development.
    6. we proposed that four newly identified peripheral blood mononuclear cells-derived genes( DHRS3, TTC38, SAP30BP and LPIN2 )could be integrated with previously reported rheumatoid arthritis (RA)-associated genes to monitor and/or diagnose RA.
      Title: New genes associated with rheumatoid arthritis identified by gene expression profiling.
    7. the bifunctional nature of retinoid oxidoreductase complex provides the RA-based signaling system with robustness by safeguarding appropriate RA concentration despite naturally occurring fluctuations in RDH10 and DHRS3.
      Title: The antagonistically bifunctional retinoid oxidoreductase complex is required for maintenance of all-trans-retinoic acid homeostasis.
    8. Data indicate that retinaldehyde reductase (DHRS3) requires retinol dehydrogenase 10 (RDH10) for full enzymatic activity and, in turn, activates RDH10.
      Title: The retinaldehyde reductase activity of DHRS3 is reciprocally activated by retinol dehydrogenase 10 to control retinoid homeostasis.
    9. p53-Inducible DHRS3 is an endoplasmic reticulum protein associated with lipid droplet accumulation.
      Title: p53-Inducible DHRS3 is an endoplasmic reticulum protein associated with lipid droplet accumulation.
    10. The retSDR1 is identified as novel transcriptional target of the p53 family and not transactivated by EEC syndrome-specific mutations of TAp63gamma.
      Title: The retinal dehydrogenase/reductase retSDR1/DHRS3 gene is activated by p53 and p63 but not by mutants derived from tumors or EEC/ADULT malformation syndromes.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables all-trans-retinol dehydrogenase (NAD+) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables all-trans-retinol dehydrogenase (NADP+) activity TAS
    Traceable Author Statement
    more info
    		  
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables nucleotide binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cardiac septum morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of retinoic acid receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of retinoic acid receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinoid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinoid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in retinol metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in roof of mouth development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in visual perception TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in lipid droplet IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor outer segment membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    short-chain dehydrogenase/reductase 3
    Names
    copy number amplified long noncoding RNA in papillary thyroid cancer 1
    dehydrogenase/reductase (SDR family) member 3
    dehydrogenase/reductase member 3
    retinal short-chain dehydrogenase/reductase 1
    retinol dehydrogenase 17
    short chain dehydrogenase/reductase family 16C member 1
    short-chain dehydrogenase/reductase 1
    NP_001306154.1
    NP_001311299.1
    NP_004744.2
    XP_006711099.1
    XP_016858298.1
    XP_047290362.1
    XP_054195601.1
    XP_054195602.1
    XP_054195603.1
    XP_054195604.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001319225.2 → NP_001306154.1  short-chain dehydrogenase/reductase 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC254633, AK225057
      Conserved Domains (1) summary
      cd05339
      Location:1 → 196
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs

    2. NM_001324370.2 → NP_001311299.1  short-chain dehydrogenase/reductase 3 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC254633
      Conserved Domains (1) summary
      cd05339
      Location:1 → 196
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs

    3. NM_004753.7 → NP_004744.2  short-chain dehydrogenase/reductase 3 isoform 1

      See identical proteins and their annotated locations for NP_004744.2

      Status: VALIDATED

      Source sequence(s)
      AC254633, BX648476
      Consensus CDS
      CCDS146.1
      UniProtKB/Swiss-Prot
      B2R7F3, O75911, Q5VUY3, Q6UY38, Q9BUC8
      UniProtKB/TrEMBL
      Q53HI7
      Related
      ENSP00000480439.1, ENST00000616661.5
      Conserved Domains (1) summary
      cd05339
      Location:53 → 281
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      12567910..12618210 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711036.3 → XP_006711099.1  short-chain dehydrogenase/reductase 3 isoform X3

      Conserved Domains (1) summary
      cl21454
      Location:53 → 117
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. XM_047434406.1 → XP_047290362.1  short-chain dehydrogenase/reductase 3 isoform X1

    3. XM_017002809.2 → XP_016858298.1  short-chain dehydrogenase/reductase 3 isoform X2

      Conserved Domains (1) summary
      cd05339
      Location:1 → 196
      17beta-HSDXI-like_SDR_c; human 17-beta-hydroxysteroid dehydrogenase XI-like, classical (c) SDRs

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      12112042..12164110 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339626.1 → XP_054195601.1  short-chain dehydrogenase/reductase 3 isoform X4

      UniProtKB/Swiss-Prot
      B2R7F3, O75911, Q5VUY3, Q6UY38, Q9BUC8

    2. XM_054339629.1 → XP_054195604.1  short-chain dehydrogenase/reductase 3 isoform X3

    3. XM_054339627.1 → XP_054195602.1  short-chain dehydrogenase/reductase 3 isoform X1

    4. XM_054339628.1 → XP_054195603.1  short-chain dehydrogenase/reductase 3 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75911.2 GenPept UniProtKB/Swiss-Prot:O75911

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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