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DHRS9 dehydrogenase/reductase 9 [ Homo sapiens (human) ]

Gene ID: 10170, updated on 11-Apr-2024

Summary

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Official Symbol
DHRS9provided by HGNC
Official Full Name
dehydrogenase/reductase 9provided by HGNC
Primary source
HGNC:HGNC:16888
See related
Ensembl:ENSG00000073737 MIM:612131; AllianceGenome:HGNC:16888
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RDHL; RDH15; RDHTBE; SDR9C4; RDH-TBE; RETSDR8; hRoDH-E2; 3ALPHA-HSD; 3-alpha-HSD
Summary
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. This protein demonstrates oxidoreductase activity toward hydroxysteroids and is able to convert 3-alpha-tetrahydroprogesterone to dihydroxyprogesterone and 3-alpha-androstanediol to dihydroxyprogesterone in the cytoplasm, and may additionally function as a transcriptional repressor in the nucleus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Expression
Biased expression in colon (RPKM 23.4), esophagus (RPKM 9.8) and 12 other tissues See more
Orthologs
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Genomic context

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Location:
2q31.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169067077..169096167)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (169542807..169571856)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (169923587..169952677)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:169764453-169765248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:169769023-169769558 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:169769559-169770093 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:169791870-169793069 Neighboring gene glucose-6-phosphatase catalytic subunit 2 Neighboring gene ATP binding cassette subfamily B member 11 Neighboring gene Sharpr-MPRA regulatory region 4346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:169966534-169967034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:169967035-169967535 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:169977784-169977942 Neighboring gene NANOG hESC enhancer GRCh37_chr2:169992762-169993275 Neighboring gene UBE2V1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 15259 Neighboring gene LDL receptor related protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170164967-170165129 Neighboring gene MPRA-validated peak3915 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr2:170213948-170214132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:170218895-170219528

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. Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report. Calì F, et al. Medicina (Kaunas), 2020 Aug 1. PMID 32752300, Free PMC Article
  2. Downregulation of DHRS9 is associated with poor prognosis in oral squamous cell carcinoma. Shimomura H, et al. Pathology, 2018 Oct. PMID 30149992
  3. DHRS9 Is a Stable Marker of Human Regulatory Macrophages. Riquelme P, et al. Transplantation, 2017 Nov. PMID 28594751, Free PMC Article
  4. Downregulation of DHRS9 expression in colorectal cancer tissues and its prognostic significance. Hu L, et al. Tumour Biol, 2016 Jan. PMID 26254099, Free PMC Article
  5. Epstein-Barr virus lytic infection induces retinoic acid-responsive genes through induction of a retinol-metabolizing enzyme, DHRS9. Jones RJ, et al. J Biol Chem, 2007 Mar 16. PMID 17244623

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcription Factor FXR Activates DHRS9 to Inhibit the Cell Oxidative Phosphorylation and Suppress Colon Cancer Progression.
    Title: Transcription Factor FXR Activates DHRS9 to Inhibit the Cell Oxidative Phosphorylation and Suppress Colon Cancer Progression.
  2. Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.
    Title: Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report.
  3. The study findings suggest that DHRS9 might be a useful diagnostic and prognostic marker for oral squamous cell carcinoma
    Title: Downregulation of DHRS9 is associated with poor prognosis in oral squamous cell carcinoma.
  4. DHRS9 is a specific and stable marker of human regulatory macrophages.
    Title: DHRS9 Is a Stable Marker of Human Regulatory Macrophages.
  5. decreased expression of DHRS9 correlates with tumor progression and may serve as a potential prognostic biomarker in colorectal cancer
    Title: Downregulation of DHRS9 expression in colorectal cancer tissues and its prognostic significance.
  6. Even at early stages of malignant transformation, a significant decrease in ADH1B, ADH3, RDHL, and RALDH1 mRNA levels was observed in 82, 79, 73, and 64% of tumor specimens, respectively
    Title: [Abnormal expression of genes that regulate retinoid metabolism and signaling in non-small-cell lung cancer].
  7. Dehydrogenase/reductase SDR family member 9 is a moonlighting protein that functions as both a metabolic enzyme and as a transcriptional repressor.
    Title: A metabolic enzyme of the short-chain dehydrogenase/reductase superfamily may moonlight in the nucleus as a repressor of promoter activity.
  8. expression of retinol dehydrogenase L is regulated by APC and CDX2
    Title: The tumor suppressor adenomatous polyposis coli and caudal related homeodomain protein regulate expression of retinol dehydrogenase L.
  9. retinoic acid-responsive genes are induced by Epstein-Barr virus lytic infection through induction of a retinol-metabolizing enzyme, DHRS9
    Title: Epstein-Barr virus lytic infection induces retinoic acid-responsive genes through induction of a retinol-metabolizing enzyme, DHRS9.
Submit: New GeneRIF Correction

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

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 downregulates the expression of dehydrogenase/reductase (SDR family) member 9 (DHRS9) in peptide-treated PBMCs PubMed

Go to the HIV-1, Human Interaction Database

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 alcohol dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables all-trans-retinol dehydrogenase (NAD+) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables all-trans-retinol dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables all-trans-retinol dehydrogenase (NAD+) activity TAS
Traceable Author Statement
more info
  
enables androstan-3-alpha,17-beta-diol dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables androsterone dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables racemase and epimerase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables testosterone dehydrogenase (NAD+) activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in 9-cis-retinoic acid biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in androgen metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in epithelial cell differentiation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in progesterone metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retinol metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in steroid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
dehydrogenase/reductase SDR family member 9
Names
3-alpha hydroxysteroid dehydrogenase
NADP-dependent retinol dehydrogenase/reductase
dehydrogenase/reductase (SDR family) member 9
retinol dehydrogenase 15
retinol dehydrogenase homolog
short chain dehydrogenase/reductase family 9C member 4
short-chain dehydrogenase/reductase retSDR8
tracheobronchial epithelial cell-specific retinol dehydrogenase
NP_001135742.1
NP_001135743.1
NP_001276692.1
NP_001363853.1
NP_954674.1
XP_011508777.1
XP_047298795.1
XP_054196087.1
XP_054196088.1

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_001142270.2 → NP_001135742.1  dehydrogenase/reductase SDR family member 9 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001135742.1

    Status: REVIEWED

    Source sequence(s)
    AC007556, AC008177
    Consensus CDS
    CCDS2231.1
    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
    UniProtKB/TrEMBL
    B2R835
    Related
    ENSP00000407167.2, ENST00000436483.6
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  2. NM_001142271.2 → NP_001135743.1  dehydrogenase/reductase SDR family member 9 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001135743.1

    Status: REVIEWED

    Source sequence(s)
    AC007556, AC008177
    Consensus CDS
    CCDS2231.1
    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
    UniProtKB/TrEMBL
    B2R835
    Related
    ENSP00000407747.1, ENST00000412271.1
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  3. NM_001289763.2 → NP_001276692.1  dehydrogenase/reductase SDR family member 9 isoform 2

    See identical proteins and their annotated locations for NP_001276692.1

    Status: REVIEWED

    Source sequence(s)
    AC007556, AC008177
    Consensus CDS
    CCDS74600.1
    UniProtKB/TrEMBL
    B2R835
    Related
    ENSP00000389241.2, ENST00000432060.6
    Conserved Domains (1) summary
    cd09805
    Location:90 → 366
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  4. NM_001376924.1 → NP_001363853.1  dehydrogenase/reductase SDR family member 9 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC007556, AC008177
    Consensus CDS
    CCDS2231.1
    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
    UniProtKB/TrEMBL
    B2R835
    Related
    ENSP00000502399.1, ENST00000674881.1
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

  5. NM_199204.2 → NP_954674.1  dehydrogenase/reductase SDR family member 9 isoform 1 precursor

    See identical proteins and their annotated locations for NP_954674.1

    Status: REVIEWED

    Source sequence(s)
    AC007556, AC008177
    Consensus CDS
    CCDS2231.1
    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
    UniProtKB/TrEMBL
    B2R835
    Related
    ENSP00000350154.2, ENST00000357546.6
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    169067077..169096167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442839.1 → XP_047298795.1  dehydrogenase/reductase SDR family member 9 isoform X1

    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0

  2. XM_011510475.2 → XP_011508777.1  dehydrogenase/reductase SDR family member 9 isoform X1

    See identical proteins and their annotated locations for XP_011508777.1

    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
    UniProtKB/TrEMBL
    B2R835
    Conserved Domains (1) summary
    cd09805
    Location:30 → 306
    type2_17beta_HSD-like_SDR_c; human 17beta-hydroxysteroid dehydrogenase type 2 (type 2 17beta-HSD)-like, classical (c) SDRs

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    169542807..169571856
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340112.1 → XP_054196087.1  dehydrogenase/reductase SDR family member 9 isoform X1

    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0

  2. XM_054340113.1 → XP_054196088.1  dehydrogenase/reductase SDR family member 9 isoform X1

    UniProtKB/Swiss-Prot
    B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005771.4: Suppressed sequence

    Description
    NM_005771.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BPW9.1 GenPept UniProtKB/Swiss-Prot:Q9BPW9

Gene LinkOut

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