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

Gene ID: 1723, updated on 24-Nov-2020

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
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

Genomic context

See DHODH in Genome Data Viewer
Location:
16q22.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (72008744..72027659)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (72042643..72059316)

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 ATP synthase F1 subunit alpha pseudogene 3 Neighboring gene thioredoxin like 4B Neighboring gene haptoglobin Neighboring gene haptoglobin-related protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
GeneReviews: Not available
Miller syndrome
MedGen: C0265257 OMIM: 263750 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FMN binding IEA
Inferred from Electronic Annotation
more info
 
dihydroorotate dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
drug binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquinone binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
'de novo' UMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
'de novo' pyrimidine nucleobase biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
female pregnancy IEA
Inferred from Electronic Annotation
more info
 
lactation IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleoside biosynthetic process TAS
Traceable Author Statement
more info
 
pyrimidine ribonucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of mitochondrial fission IEA
Inferred from Electronic Annotation
more info
 
response to L-arginine IEA
Inferred from Electronic Annotation
more info
 
response to caffeine IEA
Inferred from Electronic Annotation
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to starvation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
dihydroorotate dehydrogenase (quinone), mitochondrial
Names
dihydroorotate oxidase
human complement of yeast URA1
NP_001352.2
XP_005255884.1
XP_005255886.1
XP_016878479.1

NCBI Reference Sequences (RefSeq)

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_001361.5NP_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
    Q02127
    Related
    ENSP00000219240.4, ENST00000219240.9
    Conserved Domains (1) summary
    cd04738
    Location:45373
    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: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017022990.2XP_016878479.1  dihydroorotate dehydrogenase (quinone), mitochondrial isoform X2

  2. XM_005255827.4XP_005255884.1  dihydroorotate dehydrogenase (quinone), mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_005255884.1

    Conserved Domains (1) summary
    cd04738
    Location:17345
    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 ...
  3. XM_005255829.4XP_005255886.1  dihydroorotate dehydrogenase (quinone), mitochondrial isoform X3

    Conserved Domains (1) summary
    cd04738
    Location:3230
    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 ...

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.
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