DHODH dihydroorotate dehydrogenase (quinone) [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHODHprovided by HGNC
Official Full Name: dihydroorotate dehydrogenase (quinone)provided by HGNC
Primary source: HGNC:HGNC:2867
See related: Ensembl:ENSG00000102967 MIM:126064; AllianceGenome:HGNC:2867
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: URA1; POADS; DHOdehase
Summary: The protein encoded by this gene catalyzes the fourth enzymatic step, the ubiquinone-mediated oxidation of dihydroorotate to orotate, in de novo pyrimidine biosynthesis. This protein is a mitochondrial protein located on the outer surface of the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in liver (RPKM 7.8), kidney (RPKM 1.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (72008744..72027659)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (77826803..77845694)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (72042643..72061558)

Chromosome 16 - NC_000016.10 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?

Exploiting Cancer Vulnerabilities by Blocking of the DHODH and GPX4 Pathways: A Multifunctional Bodipy/PROTAC Nanoplatform for the Efficient Synergistic Ferroptosis Therapy.
Title: Exploiting Cancer Vulnerabilities by Blocking of the DHODH and GPX4 Pathways: A Multifunctional Bodipy/PROTAC Nanoplatform for the Efficient Synergistic Ferroptosis Therapy.
Screening for DAX1/EWS-FLI1 functional inhibitors identified dihydroorotate dehydrogenase as a therapeutic target for Ewing's sarcoma.
Title: Screening for DAX1/EWS-FLI1 functional inhibitors identified dihydroorotate dehydrogenase as a therapeutic target for Ewing's sarcoma.
Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.
Title: Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome.
Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
Title: Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome.
DHODH is an independent prognostic marker and potent therapeutic target in neuroblastoma.
Title: DHODH is an independent prognostic marker and potent therapeutic target in neuroblastoma.
New Insights into the Interaction of Class II Dihydroorotate Dehydrogenases with Ubiquinone in Lipid Bilayers as a Function of Lipid Composition.
Title: New Insights into the Interaction of Class II Dihydroorotate Dehydrogenases with Ubiquinone in Lipid Bilayers as a Function of Lipid Composition.
DHODH tangoing with GPX4 on the ferroptotic stage.
Title: DHODH tangoing with GPX4 on the ferroptotic stage.
DHODH-mediated ferroptosis defence is a targetable vulnerability in cancer.
Title: DHODH-mediated ferroptosis defence is a targetable vulnerability in cancer.
Elevated DHODH expression promotes cell proliferation via stabilizing beta-catenin in esophageal squamous cell carcinoma.
Title: Elevated DHODH expression promotes cell proliferation via stabilizing β-catenin in esophageal squamous cell carcinoma.
SOX2-dependent expression of dihydroorotate dehydrogenase regulates oral squamous cell carcinoma cell proliferation.
Title: SOX2-dependent expression of dihydroorotate dehydrogenase regulates oral squamous cell carcinoma cell proliferation.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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

Associated conditions

Description	Tests
Miller syndrome MedGen: C0265257 OMIM: 263750 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

DHODH_4702 (e-PCR)
- UniSTS:462866

RH98941 (e-PCR)
- UniSTS:87649

D16S2969 (e-PCR)
- UniSTS:45527

SHGC-61050 (e-PCR)
- UniSTS:73454

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dihydroorotase activity	IEA Inferred from Electronic Annotation more info
enables dihydroorotate dehydrogenase (quinone) activity	IEA Inferred from Electronic Annotation more info
enables dihydroorotate dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in 'de novo' UMP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in 'de novo' pyrimidine nucleobase biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in UDP biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in pyrimidine ribonucleotide biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dihydroorotate dehydrogenase (quinone), mitochondrial

Names: dihydroorotate oxidase; human complement of yeast URA1

NP_001352.2

EC 1.3.5.2

XP_005255886.1

EC 1.3.5.2

XP_047289630.1

EC 1.3.5.2

XP_054235689.1

EC 1.3.5.2

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.

Genomic

NG_016271.1 RefSeqGene

Range

5001..21674

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001361.5 → NP_001352.2 dihydroorotate dehydrogenase (quinone), mitochondrial

See identical proteins and their annotated locations for NP_001352.2

Status: REVIEWED

Source sequence(s)

AC009087, AI499306, AU130529, AU152444, BC065245, BE789211

Consensus CDS

CCDS42192.1

UniProtKB/Swiss-Prot

A8K8C8, Q02127, Q6P176

UniProtKB/TrEMBL

I3NI32

Related

ENSP00000219240.4, ENST00000219240.9

Conserved Domains (1) summary

cd04738
Location:45 → 373

DHOD_2_like; Dihydroorotate dehydrogenase (DHOD) class 2. DHOD catalyzes the oxidation of (S)-dihydroorotate to orotate. This is the fourth step and the only redox reaction in the de novo biosynthesis of UMP, the precursor of all pyrimidine nucleotides. DHOD requires ...

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_000016.10 Reference GRCh38.p14 Primary Assembly

Range

72008744..72027659

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047433674.1 → XP_047289630.1 dihydroorotate dehydrogenase (quinone), mitochondrial isoform X1
XM_005255829.5 → XP_005255886.1 dihydroorotate dehydrogenase (quinone), mitochondrial isoform X2

Conserved Domains (1) summary

cd04738
Location:3 → 230

DHOD_2_like; Dihydroorotate dehydrogenase (DHOD) class 2. DHOD catalyzes the oxidation of (S)-dihydroorotate to orotate. This is the fourth step and the only redox reaction in the de novo biosynthesis of UMP, the precursor of all pyrimidine nucleotides. DHOD requires ...

Alternate T2T-CHM13v2.0

Genomic

NC_060940.1 Alternate T2T-CHM13v2.0

Range

77826803..77845694

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054379714.1 → XP_054235689.1 dihydroorotate dehydrogenase (quinone), mitochondrial isoform X2

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001025193.1: Suppressed sequence

Description

NM_001025193.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.