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    DHRS4 dehydrogenase/reductase 4 [ Homo sapiens (human) ]

    Gene ID: 10901, updated on 14-Nov-2024

    Summary

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    Official Symbol
    DHRS4provided by HGNC
    Official Full Name
    dehydrogenase/reductase 4provided by HGNC
    Primary source
    HGNC:HGNC:16985
    See related
    Ensembl:ENSG00000157326 MIM:611596; AllianceGenome:HGNC:16985
    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
    CR; NRDR; PHCR; PSCD; SDR-SRL; SDR25C1; SDR25C2; SCAD-SRL
    Summary
    Enables identical protein binding activity; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor; and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. Involved in several processes, including cellular ketone metabolic process; positive regulation of reactive oxygen species metabolic process; and steroid metabolic process. Located in nucleus and peroxisomal membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 98.6), small intestine (RPKM 30.5) and 22 other tissues See more
    Orthologs
    all
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    Genomic context

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    See DHRS4 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23953770..23969279)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18154102..18169615)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24422979..24438488)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene dehydrogenase/reductase 4 like 2 pseudogene Neighboring gene long intergenic non-protein coding RNA 596 Neighboring gene NANOG hESC enhancer GRCh37_chr14:24366856-24367386 Neighboring gene uncharacterized LOC105370411 Neighboring gene DHRS4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8181 Neighboring gene uncharacterized LOC124903290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5614 Neighboring gene dehydrogenase/reductase 4 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5615 Neighboring gene dehydrogenase/reductase 4 like 1 (pseudogene) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8183

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA DHRS4-AS1 ameliorates hepatocellular carcinoma by suppressing proliferation and promoting apoptosis via miR-522-3p/SOCS5 axis.
      Title: LncRNA DHRS4-AS1 ameliorates hepatocellular carcinoma by suppressing proliferation and promoting apoptosis via miR-522-3p/SOCS5 axis.
    2. An analysis of the relationship between the promoter characteristics and RNA expression of the DHRS4 gene cluster indicated that the development of CpG islands, in addition to the promoter sequence, during mammalian evolution could modulate the dose compensatory regulation of the copy number-varied DHRS4 gene cluster
      Title: CpG island evolution in the mammalian DHRS4 gene cluster and its role in the regulation of gene transcription.
    3. AS1eRNA-driven DNA looping and activating histone modifications promote the expression of DHRS4-AS1 to economically control the DHRS4 gene cluster.
      Title: Enhancer RNA-driven looping enhances the transcription of the long noncoding RNA DHRS4-AS1, a controller of the DHRS4 gene cluster.
    4. NRDRB1, an alternatively spliced isoform of NRDR in vivo functions better than NRDR as a dicarbonyl reductase for xenobiotics containing reactive carbonyls.
      Title: Human NRDRB1, an alternatively spliced isoform of NADP(H)-dependent retinol dehydrogenase/reductase enhanced enzymatic activity of benzil.
    5. Results suggest a novel mechanism of cold inactivation and role of the inducible human DHRS4 in 3beta-hydroxysteroid synthesis and xenobiotic carbonyl metabolism
      Title: Characterization of human DHRS4: an inducible short-chain dehydrogenase/reductase enzyme with 3beta-hydroxysteroid dehydrogenase activity.
    6. DHRS2 and DHRS4 genes are syntenic outparalogues originating from a duplication of the DHRS4 gene that took place before the formation of the mammalian clade
      Title: Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes.
    7. This study demonstrates that AS1DHRS4, as a long noncoding RNA, simultaneously controls the chromatin state of each gene within the DHRS4 gene cluster in a discriminative manner.
      Title: AS1DHRS4, a head-to-head natural antisense transcript, silences the DHRS4 gene cluster in cis and trans.
    8. A rapid evolution rate brought the human DHRS2 gene, duplicated form of the DHRS4 one, to code a SDR enzyme having subcellular localization, synthesis regulation and specialized cellular functions very different from those of the human DHRS4 enzyme.
      Title: Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes.
    9. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    10. Analysis of exon composition in the transcripts of DHRS4 gene cluster revealed that exon 1 was absent in all the transcripts initiated from exon a1 of DHRS4L2 and exon a2 of DHRS4L1.
      Title: Bioinformatic analysis of the human DHRS4 gene cluster and a proposed mechanism for its transcriptional regulation.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    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)

    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

    Clone Names

    • FLJ11008, FLJ54180

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 3-keto sterol reductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables 3beta-hydroxy-5beta-steroid dehydrogenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alcohol dehydrogenase [NAD(P)+] activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables all-trans-retinol dehydrogenase (NADP+) activity TAS
    Traceable Author Statement
    more info
    		  
    enables carbonyl reductase (NADPH) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carbonyl reductase (NADPH) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in alcohol metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in ketone metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of reactive oxygen species metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in retinal metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retinol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in steroid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisomal matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in peroxisomal membrane HDA PubMed 
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in peroxisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dehydrogenase/reductase SDR family member 4
    Names
    NADPH-dependent carbonyl reductase
    NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenase
    NADPH-dependent retinol dehydrogenase/reductase
    dehydrogenase/reductase (SDR family) member 4 like 2A
    peroxisomal short-chain alcohol dehydrogenase
    short chain dehydrogenase/reductase family 25C member 2
    short chain dehydrogenase/reductase family 25C, member 1
    short-chain dehydrogenase/reductase family member 4
    NP_001269916.1
    NP_001269917.1
    NP_001269918.1
    NP_001269919.1
    NP_001269920.1
    NP_001397933.1
    NP_066284.2
    XP_011534668.1
    XP_047302362.1
    XP_047302366.1
    XP_054188304.1
    XP_054188305.1

    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_001282987.2 → NP_001269916.1  dehydrogenase/reductase SDR family member 4 isoform 2

      See identical proteins and their annotated locations for NP_001269916.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA293161, AY616182, CA438339
      Consensus CDS
      CCDS61408.1
      UniProtKB/Swiss-Prot
      Q9BTZ2
      Related
      ENSP00000453367.1, ENST00000558263.5
      Conserved Domains (1) summary
      cl21454
      Location:23 → 136
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    2. NM_001282988.2 → NP_001269917.1  dehydrogenase/reductase SDR family member 4 isoform 3

      See identical proteins and their annotated locations for NP_001269917.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate coding exon, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AA293161, CA438339, DQ325464
      Consensus CDS
      CCDS61410.1
      UniProtKB/TrEMBL
      D5KJA1
      Related
      ENSP00000452645.1, ENST00000558581.5
      Conserved Domains (2) summary
      PRK07231
      Location:30 → 239
      fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Provisional
      cl21454
      Location:23 → 244
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    3. NM_001282989.2 → NP_001269918.1  dehydrogenase/reductase SDR family member 4 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks three alternate exons in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AA293161, AY071856, BP366505, CA438339
      Consensus CDS
      CCDS61409.1
      UniProtKB/TrEMBL
      E9PFL3
      Related
      ENSP00000380265.3, ENST00000397075.7
      Conserved Domains (2) summary
      PRK07231
      Location:30 → 187
      fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Provisional
      cl21454
      Location:23 → 192
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    4. NM_001282990.2 → NP_001269919.1  dehydrogenase/reductase SDR family member 4 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two alternate coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AA293161, BP366505, CA438339, DQ338571
      Consensus CDS
      CCDS61411.1
      UniProtKB/Swiss-Prot
      Q9BTZ2
      Related
      ENSP00000453983.1, ENST00000559632.5
      Conserved Domains (2) summary
      PRK07231
      Location:30 → 194
      fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Provisional
      cl21454
      Location:23 → 199
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    5. NM_001282991.2 → NP_001269920.1  dehydrogenase/reductase SDR family member 4 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks four alternate coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AA293161, CA438339, CD674505
      Consensus CDS
      CCDS61412.1
      UniProtKB/TrEMBL
      E9PFL3
      Related
      ENSP00000380264.3, ENST00000397074.7
      Conserved Domains (2) summary
      PRK07231
      Location:30 → 153
      fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Provisional
      cl21454
      Location:23 → 158
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    6. NM_001411004.1 → NP_001397933.1  dehydrogenase/reductase SDR family member 4 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL136419
      Consensus CDS
      CCDS91852.1
      UniProtKB/TrEMBL
      F5GWZ1
      Related
      ENSP00000440508.2, ENST00000543741.6

    7. NM_021004.4 → NP_066284.2  dehydrogenase/reductase SDR family member 4 isoform 1

      See identical proteins and their annotated locations for NP_066284.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      BC003019, BQ030242, BU529016, CA438339
      Consensus CDS
      CCDS9605.1
      UniProtKB/Swiss-Prot
      B2RB10, B7WNS9, D3YTB8, E2QRL8, O95162, Q20CR0, Q2LC19, Q2LE81, Q58IU4, Q6E0Y1, Q6UWU3, Q71UQ6, Q8TD03, Q9BTZ2, Q9H3N5, Q9NV08
      UniProtKB/TrEMBL
      A0AAG2UWK5
      Related
      ENSP00000326219.5, ENST00000313250.10
      Conserved Domains (2) summary
      cd08936
      Location:23 → 278
      CR_SDR_c; Porcine peroxisomal carbonyl reductase like, classical (c) SDR
      PRK07231
      Location:30 → 273
      fabG; 3-ketoacyl-(acyl-carrier-protein) reductase; Provisional

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23953770..23969279
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011536366.3 → XP_011534668.1  dehydrogenase/reductase SDR family member 4 isoform X1

      See identical proteins and their annotated locations for XP_011534668.1

      UniProtKB/TrEMBL
      B7Z6Z5
      Conserved Domains (1) summary
      cl21454
      Location:23 → 138
      NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p14 PATCHES

      Range
      254749..270260
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332329.1 → XP_054188304.1  dehydrogenase/reductase SDR family member 4 isoform X2

    2. XM_054332330.1 → XP_054188305.1  dehydrogenase/reductase SDR family member 4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      18154102..18169615
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047446406.1 → XP_047302362.1  dehydrogenase/reductase SDR family member 4 isoform X3

    2. XM_047446410.1 → XP_047302366.1  dehydrogenase/reductase SDR family member 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTZ2.3 GenPept UniProtKB/Swiss-Prot:Q9BTZ2

    Gene LinkOut

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

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