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

    Gene ID: 10170, updated on 10-Dec-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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    See DHRS9 in Genome Data Viewer
    Location:
    2q31.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (169067077..169096167)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (169542807..169571856)
    RS_2024_09 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

    Bibliography

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    Related articles in PubMed

    1. Expression pattern and biochemical characteristics of a major epidermal retinol dehydrogenase. Markova NG, et al. Mol Genet Metab, 2003 Feb. PMID 12618084
    2. 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
    3. 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
    4. Downregulation of DHRS9 is associated with poor prognosis in oral squamous cell carcinoma. Shimomura H, et al. Pathology, 2018 Oct. PMID 30149992
    5. 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

    See all (27) 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)

    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 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 oxidoreductase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    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 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_2024_08

    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
      UniProtKB/TrEMBL
      B2R835

    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
      UniProtKB/TrEMBL
      B2R835

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

      UniProtKB/Swiss-Prot
      B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
      UniProtKB/TrEMBL
      B2R835

    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

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

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