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

Summary

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, Oct 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

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_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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.
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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-64141 (e-PCR)
- UniSTS:79734

G31120 (e-PCR)
- UniSTS:33408

RH44509 (e-PCR)
- UniSTS:67201

A007G16 (e-PCR)
- UniSTS:36813

T15928 (e-PCR)
- UniSTS:38358

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
enables retinal dehydrogenase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in alcohol metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular 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 more info	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 more info	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

EC 1.1.1.184

NP_001269917.1

EC 1.1.1.184

NP_001269918.1

EC 1.1.1.184

NP_001269919.1

EC 1.1.1.184

NP_001269920.1

EC 1.1.1.184

NP_001397933.1

EC 1.1.1.184

NP_066284.2

EC 1.1.1.184

XP_011534668.1

EC 1.1.1.184

XP_047302362.1

EC 1.1.1.184

XP_047302366.1

EC 1.1.1.184

XP_054188304.1

EC 1.1.1.184

XP_054188305.1

EC 1.1.1.184

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)

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
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
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
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
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
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
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

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

23953770..23969279

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NW_018654722.1 Reference GRCh38.p14 PATCHES

Range

254749..270260

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332329.1 → XP_054188304.1 dehydrogenase/reductase SDR family member 4 isoform X2
XM_054332330.1 → XP_054188305.1 dehydrogenase/reductase SDR family member 4 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

18154102..18169615

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047446406.1 → XP_047302362.1 dehydrogenase/reductase SDR family member 4 isoform X3
XM_047446410.1 → XP_047302366.1 dehydrogenase/reductase SDR family member 4 isoform X1