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

Gene ID: 9249, updated on 2-Nov-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 all-trans-retinol dehydrogenase (NAD+) 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 heart 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, Nov 2024]
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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See DHRS3 in Genome Data Viewer
Location:
1p36.21
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (12567910..12618210, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (12112042..12164110, complement)
RS_2024_09 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 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. 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
  2. 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
  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 (32) 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
    UniProtKB/TrEMBL
    A0AAQ5BI35
    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
    UniProtKB/TrEMBL
    A0AAQ5BI35
    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_2024_08

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

    UniProtKB/TrEMBL
    A0AAQ5BI35
    Related
    ENSP00000519783.1, ENST00000714541.1
    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

    UniProtKB/TrEMBL
    A0AAQ5BI35
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75911.2 GenPept UniProtKB/Swiss-Prot:O75911

Gene LinkOut

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