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

Summary

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: mouse all
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Genomic context

Location:: 2q31.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (169067077..169096167)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (169542807..169571856)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (169923587..169952677)

Chromosome 2 - NC_000002.12 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
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?

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.
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.
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.
DHRS9 is a specific and stable marker of human regulatory macrophages.
Title: DHRS9 Is a Stable Marker of Human Regulatory Macrophages.
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.
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].
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.
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.
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.

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D2S2075 (e-PCR)
- UniSTS:852

SHGC-84657 (e-PCR)
- UniSTS:103144

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	IBA Inferred from Biological aspect of Ancestor more info
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 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	IBA Inferred from Biological aspect of Ancestor more info
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

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

NP_001135743.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

NP_001276692.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

NP_001363853.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

NP_954674.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

XP_011508777.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

XP_047298795.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

XP_054196087.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

XP_054196088.1

EC 1.1.1.105

EC 1.1.1.209

EC 1.1.1.53

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_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
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
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
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
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

169067077..169096167

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047442839.1 → XP_047298795.1 dehydrogenase/reductase SDR family member 9 isoform X1

UniProtKB/Swiss-Prot

B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

169542807..169571856

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054340112.1 → XP_054196087.1 dehydrogenase/reductase SDR family member 9 isoform X1

UniProtKB/Swiss-Prot

B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0
XM_054340113.1 → XP_054196088.1 dehydrogenase/reductase SDR family member 9 isoform X1

UniProtKB/Swiss-Prot

B7Z416, D3DPC1, Q5RKX1, Q9BPW9, Q9NRA9, Q9NRB0

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_005771.4: Suppressed sequence

Description

NM_005771.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.