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Aliases for DHODH Gene

Aliases for DHODH Gene

  • Dihydroorotate Dehydrogenase (Quinone) 2 3
  • Dihydroorotate Oxidase 3 4
  • DHOdehase 3 4
  • POADS 3 6
  • URA1 3 6
  • Dihydroorotate Dehydrogenase (Quinone), Mitochondrial 3
  • Human Complement Of Yeast URA1 3
  • Dihydroorotate Dehydrogenase 2
  • EC 1.3.3.1 63
  • EC 1.3.5.2 4

External Ids for DHODH Gene

Previous GeneCards Identifiers for DHODH Gene

  • GC16P062936
  • GC16P072765
  • GC16P071778
  • GC16P071818
  • GC16P070600
  • GC16P057809

Summaries for DHODH Gene

Entrez Gene Summary for DHODH Gene

  • 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]

GeneCards Summary for DHODH Gene

DHODH (Dihydroorotate Dehydrogenase (Quinone)) is a Protein Coding gene. Diseases associated with DHODH include miller syndrome and supernumerary nipples. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include drug binding and ubiquinone binding.

UniProtKB/Swiss-Prot for DHODH Gene

  • Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DHODH Gene

Genomics for DHODH Gene

Regulatory Elements for DHODH Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DHODH Gene

Start:
72,008,588 bp from pter
End:
72,027,664 bp from pter
Size:
19,077 bases
Orientation:
Plus strand

Genomic View for DHODH Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DHODH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DHODH Gene

Proteins for DHODH Gene

  • Protein details for DHODH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02127-PYRD_HUMAN
    Recommended name:
    Dihydroorotate dehydrogenase (quinone), mitochondrial
    Protein Accession:
    Q02127
    Secondary Accessions:
    • A8K8C8
    • Q6P176

    Protein attributes for DHODH Gene

    Size:
    395 amino acids
    Molecular mass:
    42867 Da
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210; Note=Binds 1 FMN per subunit.;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • The identification of DHODH defects as the cause of postaxial acrofacial dysostosis (POADS) was obtained via exome sequencing (PubMed:19915526), demonstrating that this method is a powerful tool for identifying genes underlying rare Mendelian disorders. Exome sequencing consists of targeted resequencing of all protein-coding subsequences, which requires around 5% as much sequencing as a whole human genome.

    Three dimensional structures from OCA and Proteopedia for DHODH Gene

neXtProt entry for DHODH Gene

Proteomics data for DHODH Gene at MOPED

Post-translational modifications for DHODH Gene

  • The uncleaved transit peptide is required for mitochondrial targeting and proper membrane integration
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DHODH Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for DHODH Gene

Suggested Antigen Peptide Sequences for DHODH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02127

UniProtKB/Swiss-Prot:

PYRD_HUMAN :
  • Q02127
Family:
  • Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
genes like me logo Genes that share domains with DHODH: view

No data available for Gene Families for DHODH Gene

Function for DHODH Gene

Molecular function for DHODH Gene

GENATLAS Biochemistry: dihydroorotate dehydrogenase,catalyzing the fourth step of the pyrimidine de novo biosynthesis
UniProtKB/Swiss-Prot CatalyticActivity: (S)-dihydroorotate + a quinone = orotate + a quinol.
UniProtKB/Swiss-Prot Function: Catalyzes the conversion of dihydroorotate to orotate with quinone as electron acceptor

Enzyme Numbers (IUBMB) for DHODH Gene

Gene Ontology (GO) - Molecular Function for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004152 dihydroorotate dehydrogenase activity TAS --
GO:0008144 drug binding IEA --
GO:0010181 FMN binding IEA --
GO:0048039 ubiquinone binding IEA --
genes like me logo Genes that share ontologies with DHODH: view

Phenotypes for DHODH Gene

GenomeRNAi human phenotypes for DHODH:
genes like me logo Genes that share phenotypes with DHODH: view

Animal Model Products

CRISPR Products

miRNA for DHODH Gene

miRTarBase miRNAs that target DHODH

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for DHODH Gene

Localization for DHODH Gene

Subcellular locations from UniProtKB/Swiss-Prot for DHODH Gene

Mitochondrion inner membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DHODH Gene COMPARTMENTS Subcellular localization image for DHODH gene
Compartment Confidence
mitochondrion 5
cytosol 2
endoplasmic reticulum 1
extracellular 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DHODH: view

Pathways for DHODH Gene

genes like me logo Genes that share pathways with DHODH: view

Pathways by source for DHODH Gene

UniProtKB/Swiss-Prot Q02127-PYRD_HUMAN

  • Pathway: Pyrimidine metabolism; UMP biosynthesis via de novo pathway; orotate from (S)-dihydroorotate (quinone route): step 1/1

Interacting Proteins for DHODH Gene

Gene Ontology (GO) - Biological Process for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006206 pyrimidine nucleobase metabolic process TAS --
GO:0006207 de novo pyrimidine nucleobase biosynthetic process IBA --
GO:0006222 UMP biosynthetic process --
GO:0007565 female pregnancy IEA --
GO:0007595 lactation IEA --
genes like me logo Genes that share ontologies with DHODH: view

Compounds for DHODH Gene

(7) HMDB Compounds for DHODH Gene

Compound Synonyms Cas Number PubMed IDs
4,5-Dihydroorotic acid
  • (+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
155-54-4
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Flavin Mononucleotide
  • FMN
146-17-8
Hydrogen peroxide
  • Hydrogen peroxide
7722-84-1
L-Dihydroorotic acid
  • (S)-4,5-Dihydroorotate
5988-19-2

(36) Novoseek inferred chemical compound relationships for DHODH Gene

Compound -log(P) Hits PubMed IDs
dihydroorotate 99.3 197
brequinar sodium 96.1 25
dichloroallyllawsone 95.8 4
redoxal 95.1 7
leflunomide 91.3 33

(1) PharmGKB related drug/compound annotations for DHODH Gene

Drug/compound Annotation
leflunomide CA
genes like me logo Genes that share compounds with DHODH: view

Transcripts for DHODH Gene

Unigene Clusters for DHODH Gene

Dihydroorotate dehydrogenase (quinone):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DHODH

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DHODH Gene

No ASD Table

Relevant External Links for DHODH Gene

GeneLoc Exon Structure for
DHODH
ECgene alternative splicing isoforms for
DHODH

Expression for DHODH Gene

mRNA expression in normal human tissues for DHODH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DHODH Gene

This gene is overexpressed in Liver (20.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DHODH Gene

SOURCE GeneReport for Unigene cluster for DHODH Gene Hs.654427

genes like me logo Genes that share expressions with DHODH: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for DHODH Gene

Orthologs for DHODH Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHODH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DHODH 35
  • 99.24 (n)
  • 99.49 (a)
DHODH 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DHODH 35
  • 87.76 (n)
  • 91.65 (a)
DHODH 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DHODH 35
  • 88.02 (n)
  • 89.62 (a)
DHODH 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dhodh 35
  • 84.81 (n)
  • 87.59 (a)
Dhodh 16
Dhodh 36
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DHODH 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHODH 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhodh 35
  • 85.15 (n)
  • 88.61 (a)
chicken
(Gallus gallus)
Aves DHODH 35
  • 68.65 (n)
  • 73.13 (a)
DHODH 36
  • 73 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DHODH 36
  • 73 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4872 35
tropical clawed frog
(Silurana tropicalis)
Amphibia dhodh 35
  • 66.33 (n)
  • 68.53 (a)
Str.12297 35
zebrafish
(Danio rerio)
Actinopterygii dhodh 35
  • 65.06 (n)
  • 68.96 (a)
dhodh 36
  • 66 (a)
OneToOne
wufc29a01 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002037 35
  • 58.24 (n)
  • 55.49 (a)
fruit fly
(Drosophila melanogaster)
Insecta Dhod 35
  • 53.16 (n)
  • 50.13 (a)
Dhod 36
  • 47 (a)
OneToOne
Dhod 37
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea dhod-1 35
  • 51.52 (n)
  • 52.22 (a)
dhod-1 36
  • 48 (a)
OneToOne
W02D3.2 37
  • 51 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL035C 35
  • 52.17 (n)
  • 48.94 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA1 36
  • 23 (a)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09240g 35
  • 50.7 (n)
  • 49.3 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons PYRD 35
  • 56.04 (n)
  • 54.92 (a)
rice
(Oryza sativa)
Liliopsida Os04g0676300 35
  • 55.1 (n)
  • 56.76 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ura3 35
  • 50.55 (n)
  • 53.73 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 53 (a)
OneToOne
Species with no ortholog for DHODH:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DHODH Gene

ENSEMBL:
Gene Tree for DHODH (if available)
TreeFam:
Gene Tree for DHODH (if available)

Paralogs for DHODH Gene

No data available for Paralogs for DHODH Gene

Variants for DHODH Gene

Sequence variations from dbSNP and Humsavar for DHODH Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs752434 -- 72,013,271(-) AGGAC(A/G/T)CCTTA intron-variant
rs1465457 -- 72,012,369(-) CCACT(C/G)CTCAC intron-variant
rs1862752 -- 72,021,085(-) ACACC(A/C)TTTCC intron-variant
rs2052579 -- 72,010,106(-) ATGAT(C/T)AGATT intron-variant
rs2081222 -- 72,021,750(-) ctggg(C/T)tataa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DHODH Gene

Variant ID Type Subtype PubMed ID
nsv7285 OTHER Inversion 18451855
nsv833273 CNV Loss 17160897
dgv898e1 CNV Complex 17122850
nsv428329 CNV Gain 18775914
esv2714683 CNV Deletion 23290073
nsv906894 CNV Gain 21882294

Relevant External Links for DHODH Gene

HapMap Linkage Disequilibrium report
DHODH
Human Gene Mutation Database (HGMD)
DHODH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DHODH Gene

Disorders for DHODH Gene

MalaCards: The human disease database

MalaCards: The human disease database. (4) Diseases for DHODH Gene including...

Search for DHODH Gene in MalaCards »

(1) OMIM Diseases for DHODH Gene (126064)

UniProtKB/Swiss-Prot

PYRD_HUMAN
  • Postaxial acrofacial dysostosis (POADS) [MIM:263750]: POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases. {ECO:0000269 PubMed:19915526}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for DHODH Gene

(8) Novoseek inferred disease relationships for DHODH Gene

Disease -log(P) Hits PubMed IDs
rheumatoid arthritis 49 5
malaria 33.6 6
autoimmune diseases 32.7 2
chagas disease 16 1
virus infection 0 2

Relevant External Links for DHODH

Genetic Association Database (GAD)
DHODH
Human Genome Epidemiology (HuGE) Navigator
DHODH
genes like me logo Genes that share disorders with DHODH: view

Publications for DHODH Gene

  1. Cloning and sequencing of a human cDNA coding for dihydroorotate dehydrogenase by complementation of the corresponding yeast mutant. (PMID: 1446837) Minet M. … Lacroute F. (Gene 1992) 3 4 23
  2. Recombinant human dihydroorotate dehydrogenase: expression, purification, and characterization of a catalytically functional truncated enzyme. (PMID: 7487077) Copeland R.A. … Patterson T.A. (Arch. Biochem. Biophys. 1995) 3 4 23
  3. Functional expression of a fragment of human dihydroorotate dehydrogenase by means of the baculovirus expression vector system, and kinetic investigation of the purified recombinant enzyme. (PMID: 8925840) Knecht W. … Loeffler M. (Eur. J. Biochem. 1996) 3 4 23
  4. Structures of human dihydroorotate dehydrogenase in complex with antiproliferative agents. (PMID: 10673429) Liu S. … Clardy J. (Structure 2000) 3 4 23
  5. Requirements for the mitochondrial import and localization of dihydroorotate dehydrogenase. (PMID: 10727948) Rawls J. … Loeffler M. (Eur. J. Biochem. 2000) 3 4 23

Products for DHODH Gene

Sources for DHODH Gene

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