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Aliases for DHODH Gene

Aliases for DHODH Gene

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

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 Purine 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

Chromosome:
16
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

Antibody Products

Domains & Families 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 :
  • Belongs to the dihydroorotate dehydrogenase family. Type 2 subfamily.
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:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
GO:0048039 ubiquinone binding IEA --
genes like me logo Genes that share ontologies with DHODH: view
genes like me logo Genes that share phenotypes with DHODH: view

Animal Model Products

miRNA for DHODH Gene

miRTarBase miRNAs that target DHODH

No data available for Animal Models , Transcription Factor Targets 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 4
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for DHODH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IBA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane --
genes like me logo Genes that share ontologies with DHODH: view

Pathways & Interactions 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

No data available for SIGNOR curated interactions for DHODH Gene

Drugs & Compounds for DHODH Gene

(40) Drugs for DHODH Gene - From: NovoSeek, HMDB, DrugBank, DGIdb, ApexBio, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Leflunomide Approved, Investigational Pharma inhibitor, Target AHR agonist,immunosuppressive agent 59
Teriflunomide Approved Pharma inhibitor, Target Multiple sclerosis (MS) oral drug 0
Atovaquone Approved Pharma Target, inhibitor 31
FAD Approved Pharma 0
Orotic Acid Experimental Pharma Target 0

(24) Additional Compounds for DHODH Gene - From: NovoSeek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
4,5-Dihydroorotic acid
  • (+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
  • (+)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylic acid
  • (R)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
  • (R)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylic acid
  • (S)-2,6-dioxo-hexahydro-pyrimidine-4-carboxylate
155-54-4
L-Dihydroorotic acid
  • (S)-4,5-Dihydroorotate
  • (S)-Dihydroorotate
  • Dihydro-L-orotate
  • Dihydro-L-orotic acid
  • L-Dihydroorotate
5988-19-2
5-Fluoroorotic acid
aspartate
genes like me logo Genes that share compounds with DHODH: view

Drug Products

Transcripts for DHODH Gene

Unigene Clusters for DHODH Gene

Dihydroorotate dehydrogenase (quinone):
Representative Sequences:

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 differential expression in normal tissues according to GTEx for DHODH Gene

This gene is overexpressed in Liver (x20.2).

Protein differential expression in normal tissues from HIPED for DHODH Gene

This gene is overexpressed in Nasal epithelium (61.9).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with DHODH: view

Protein tissue co-expression partners for DHODH Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia DHODH 35
  • 99.24 (n)
  • 99.49 (a)
DHODH 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dhodh 35
  • 85.15 (n)
  • 88.61 (a)
oppossum
(Monodelphis domestica)
Mammalia DHODH 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DHODH 36
  • 83 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia dhodh 35
  • 66.33 (n)
  • 68.53 (a)
Str.12297 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.4872 35
zebrafish
(Danio rerio)
Actinopterygii dhodh 35
  • 65.06 (n)
  • 68.96 (a)
wufc29a01 35
dhodh 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dhod 37
  • 48 (a)
Dhod 35
  • 53.16 (n)
  • 50.13 (a)
Dhod 36
  • 47 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002037 35
  • 58.24 (n)
  • 55.49 (a)
worm
(Caenorhabditis elegans)
Secernentea W02D3.2 37
  • 51 (a)
dhod-1 35
  • 51.52 (n)
  • 52.22 (a)
dhod-1 36
  • 48 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL035C 35
  • 52.17 (n)
  • 48.94 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09240g 35
  • 50.7 (n)
  • 49.3 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes URA1 36
  • 23 (a)
OneToOne
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, upstream-variant-2KB
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

Variation tolerance for DHODH Gene

Residual Variation Intolerance Score: 65.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.26% of all genes are more intolerant (likely to be disease-causing)

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

(7) MalaCards diseases for DHODH Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
miller syndrome
  • genee-wiedemann acrofacial dysostosis
supernumerary nipples
  • accessory nipples
acrofacial dysostosis 1, nager type
  • nager acrofacial dysostosis
dysostosis
  • dysostoses
treacher collins syndrome 1
  • treacher collins syndrome
- elite association
Search DHODH in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for DHODH

Genetic Association Database (GAD)
DHODH
Human Genome Epidemiology (HuGE) Navigator
DHODH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DHODH
genes like me logo Genes that share disorders with DHODH: view

No data available for Genatlas for DHODH Gene

Publications for DHODH Gene

  1. Leflunomide for the treatment of rheumatoid arthritis and autoimmunity. (PMID: 12003373) Sanders S. … Harisdangkul V. (Am. J. Med. Sci. 2002) 23 25 26 67
  2. Leflunomide: an immunomodulatory drug for the treatment of rheumatoid arthritis and other autoimmune diseases. (PMID: 10878294) Herrmann M.L. … Kirschbaum B.J. (Immunopharmacology 2000) 23 25 26 67
  3. Leflunomide: mode of action in the treatment of rheumatoid arthritis. (PMID: 11053058) Breedveld F.C. … Dayer J.M. (Ann. Rheum. Dis. 2000) 23 25 26 67
  4. Kinetics of inhibition of human and rat dihydroorotate dehydrogenase by atovaquone, lawsone derivatives, brequinar sodium and polyporic acid. (PMID: 10658902) Knecht W. … LAPffler M. (Chem. Biol. Interact. 2000) 23 25 26 67
  5. Mechanism of action of leflunomide in rheumatoid arthritis. (PMID: 9666414) Fox R.I. (J Rheumatol Suppl 1998) 23 25 26 67

Products for DHODH Gene

Sources for DHODH Gene

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