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    DHRS1 dehydrogenase/reductase 1 [ Homo sapiens (human) ]

    Gene ID: 115817, updated on 5-Mar-2024

    Summary

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    Official Symbol
    DHRS1provided by HGNC
    Official Full Name
    dehydrogenase/reductase 1provided by HGNC
    Primary source
    HGNC:HGNC:16445
    See related
    Ensembl:ENSG00000157379 MIM:610410; AllianceGenome:HGNC:16445
    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
    SDR19C1
    Summary
    This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) family. The encoded enzyme contains a conserved catalytic domain and likely functions as an oxidoreductase. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2008]
    Expression
    Ubiquitous expression in liver (RPKM 39.6), esophagus (RPKM 38.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    14q12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24290598..24299780, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18488942..18498124, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24759804..24768986, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8203 Neighboring gene transglutaminase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24727660-24728357 Neighboring gene TGM1 promoter region Neighboring gene Rab geranylgeranyltransferase subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8204 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8205 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8206 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8209 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:24747863-24748093 Neighboring gene NOP9 nucleolar protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8210 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8213 Neighboring gene nonconserved acetylation island sequence 81 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5636 Neighboring gene cell death inducing DFFA like effector b Neighboring gene leukotriene B4 receptor 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24785286-24785786 Neighboring gene leukotriene B4 receptor

    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. Decreased DHRS1 expression is a novel predictor of poor survival in patients with hepatocellular carcinoma. Li L, et al. Biomark Med, 2021 Oct. PMID 34498498
    2. Initial characterization of human DHRS1 (SDR19C1), a member of the short-chain dehydrogenase/reductase superfamily. Zemanová L, et al. J Steroid Biochem Mol Biol, 2019 Jan. PMID 30031147
    3. Multivariate sequence analysis reveals additional function impacting residues in the SDR superfamily. Tiwari P, et al. Proteins, 2014 Oct. PMID 25052469
    4. Molecular cloning and characterization of a novel Dehydrogenase/reductase (SDR family) member 1 genea from human fetal brain. Wu Q, et al. Mol Biol Rep, 2001. PMID 12153138
    5. Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Nudel R, et al. Genes Brain Behav, 2014 Apr. PMID 24571439, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Construction and validation of a immune-related prognostic gene DHRS1 in hepatocellular carcinoma based on bioinformatic analysis.
      Title: Construction and validation of a immune-related prognostic gene DHRS1 in hepatocellular carcinoma based on bioinformatic analysis.
    2. Decreased DHRS1 expression is a novel predictor of poor survival in patients with hepatocellular carcinoma.
      Title: Decreased DHRS1 expression is a novel predictor of poor survival in patients with hepatocellular carcinoma.
    3. DHRS1 was proven to be an NADPH-dependent reductase that is able to catalyse the in vitro reductive conversion of some steroids (estrone, androstene-3,17-dione and cortisone), as well as other endogenous substances and xenobiotics.
      Title: Initial characterization of human DHRS1 (SDR19C1), a member of the short-chain dehydrogenase/reductase superfamily.
    4. Data suggest that members of short chain dehydrogenase/reductase superfamily (human DHRS1; E coli galE) exhibit conserved residues and tertiary structure in active site domain that are essential for biocatalysis.
      Title: Multivariate sequence analysis reveals additional function impacting residues in the SDR superfamily.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    6. novel human SDR-type dehydrogenase/reductase gene named Dehydrogenase/reductase (SDR family) member 1 (DHRS1)
      Title: Molecular cloning and characterization of a novel Dehydrogenase/reductase (SDR family) member 1 genea from human fetal brain.
    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

    EBI GWAS Catalog

    Description
    Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
    EBI GWAS Catalog

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ14250, FLJ25430, MGC20204, DKFZp586I0523

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carbonyl reductase (NADPH) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables testosterone 17-beta-dehydrogenase (NADP+) activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    dehydrogenase/reductase SDR family member 1
    Names
    dehydrogenase/reductase (SDR family) member 1
    short chain dehydrogenase/reductase family 19C member 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_001136050.3 → NP_001129522.1  dehydrogenase/reductase SDR family member 1

      See identical proteins and their annotated locations for NP_001129522.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AF418205, AL833917, DB272453
      Consensus CDS
      CCDS9623.1
      UniProtKB/Swiss-Prot
      D3DS71, Q8NDG3, Q96B59, Q96CQ5, Q96LJ7
      Related
      ENSP00000288111.7, ENST00000288111.12
      Conserved Domains (2) summary
      cd09763
      Location:5 → 271
      DHRS1-like_SDR_c; human dehydrogenase/reductase (SDR family) member 1 (DHRS1) -like, classical (c) SDRs
      PRK08303
      Location:1 → 271
      PRK08303; short chain dehydrogenase; Provisional

    2. NM_138452.3 → NP_612461.1  dehydrogenase/reductase SDR family member 1

      See identical proteins and their annotated locations for NP_612461.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK058159, AL096870, BC014057
      Consensus CDS
      CCDS9623.1
      UniProtKB/Swiss-Prot
      D3DS71, Q8NDG3, Q96B59, Q96CQ5, Q96LJ7
      Related
      ENSP00000380027.1, ENST00000396813.5
      Conserved Domains (2) summary
      cd09763
      Location:5 → 271
      DHRS1-like_SDR_c; human dehydrogenase/reductase (SDR family) member 1 (DHRS1) -like, classical (c) SDRs
      PRK08303
      Location:1 → 271
      PRK08303; short chain dehydrogenase; Provisional

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      24290598..24299780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      591576..600758 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18488942..18498124 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LJ7.1 GenPept UniProtKB/Swiss-Prot:Q96LJ7

    Gene LinkOut

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

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