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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
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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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