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

Gene ID: 1723, updated on 2-Nov-2024

Summary

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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
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Genomic context

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See DHODH in Genome Data Viewer
Location:
16q22.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (72008744..72027659)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77826803..77845694)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72042643..72061558)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene polycystin 1 like 3, transient receptor potential channel interacting Neighboring gene ribosomal protein L39 pseudogene 31 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:72042438-72042637 Neighboring gene ATP synthase F1 subunit alpha pseudogene 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:72057307-72058506 Neighboring gene haptoglobin Neighboring gene haptoglobin-related protein

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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Related articles in PubMed

  1. The effect of exon (19C>A) dihydroorotate dehydrogenase gene polymorphism on rheumatoid arthritis treatment with leflunomide. Pawlik A, et al. Pharmacogenomics, 2009 Feb. PMID 19207032
  2. Dihydroorotate dehydrogenase in oxidative phosphorylation and cancer. Boukalova S, et al. Biochim Biophys Acta Mol Basis Dis, 2020 Jun 1. PMID 32151633
  3. Structural Optimization and Structure-Activity Relationship of 4-Thiazolidinone Derivatives as Novel Inhibitors of Human Dihydroorotate Dehydrogenase. Zeng F, et al. Molecules, 2019 Jul 31. PMID 31370178, Free PMC Article
  4. Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. Duley JA, et al. Mol Genet Metab, 2016 Sep. PMID 27370710
  5. Conformational changes of the HsDHODH N-terminal Microdomain via DEER Spectroscopy. Vicente EF, et al. J Phys Chem B, 2015 Jul 16. PMID 26086954, Free PMC Article

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Pivotal role of dihydroorotate dehydrogenase as a therapeutic target in adult T-cell leukemia.
    Title: Pivotal role of dihydroorotate dehydrogenase as a therapeutic target in adult T-cell leukemia.
  2. Bioinformatics analysis and experimental verification of the cancer-promoting effect of DHODH in clear cell renal cell carcinoma.
    Title: Bioinformatics analysis and experimental verification of the cancer-promoting effect of DHODH in clear cell renal cell carcinoma.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. DHODH tangoing with GPX4 on the ferroptotic stage.
    Title: DHODH tangoing with GPX4 on the ferroptotic stage.
  10. DHODH-mediated ferroptosis defence is a targetable vulnerability in cancer.
    Title: DHODH-mediated ferroptosis defence is a targetable vulnerability in cancer.
Submit: New GeneRIF Correction See all GeneRIFs (33)

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
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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

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

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables dihydroorotase activity IEA
Inferred from Electronic Annotation
more info
  
enables dihydroorotate dehydrogenase (quinone) activity IDA
Inferred from Direct Assay
more info
 PubMed 
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 HTP PubMed 
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
XP_005255886.1
XP_047289630.1
XP_054235689.1

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.

Genomic

  1. NG_016271.1 RefSeqGene

    Range
    5001..21674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    72008744..72027659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433674.1 → XP_047289630.1  dihydroorotate dehydrogenase (quinone), mitochondrial isoform X1

  2. 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

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    77826803..77845694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001025193.1: Suppressed sequence

    Description
    NM_001025193.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q02127.3 GenPept UniProtKB/Swiss-Prot:Q02127

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