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Aliases for EPHX1 Gene

Aliases for EPHX1 Gene

  • Epoxide Hydrolase 1 2 3
  • Epoxide Hydrolase 1, Microsomal (Xenobiotic) 2 3 5
  • Epoxide Hydratase 3 4
  • EPHX 3 4
  • EPOX 3 4
  • Epoxide Hydrolase 1 Microsomal 3
  • Microsomal Epoxide Hydrolase 4
  • EC 4
  • HYL1 3
  • MEH 3

External Ids for EPHX1 Gene

Previous HGNC Symbols for EPHX1 Gene

  • EPHX

Previous GeneCards Identifiers for EPHX1 Gene

  • GC01P224495
  • GC01P221830
  • GC01P222405
  • GC01P222972
  • GC01P222304
  • GC01P224064
  • GC01P225997
  • GC01P196515

Summaries for EPHX1 Gene

Entrez Gene Summary for EPHX1 Gene

  • Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]

GeneCards Summary for EPHX1 Gene

EPHX1 (Epoxide Hydrolase 1) is a Protein Coding gene. Diseases associated with EPHX1 include Hypercholanemia, Familial and Preeclampsia/Eclampsia 1. Among its related pathways are Phenytoin Pathway, Pharmacokinetics and Bile secretion. GO annotations related to this gene include epoxide hydrolase activity and cis-stilbene-oxide hydrolase activity.

UniProtKB/Swiss-Prot for EPHX1 Gene

  • Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water.

Gene Wiki entry for EPHX1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHX1 Gene

Genomics for EPHX1 Gene

Regulatory Elements for EPHX1 Gene

Enhancers for EPHX1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPHX1 on UCSC Golden Path with GeneCards custom track

Promoters for EPHX1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPHX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPHX1 Gene

225,810,074 bp from pter
225,845,563 bp from pter
35,490 bases
Plus strand

Genomic View for EPHX1 Gene

Genes around EPHX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHX1 Gene

Proteins for EPHX1 Gene

  • Protein details for EPHX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Epoxide hydrolase 1
    Protein Accession:
    Secondary Accessions:
    • B2R8N0
    • Q5VTJ6
    • Q9NP75
    • Q9NPE7
    • Q9NQU6
    • Q9NQU7
    • Q9NQU8
    • Q9NQU9
    • Q9NQV0
    • Q9NQV1
    • Q9NQV2

    Protein attributes for EPHX1 Gene

    455 amino acids
    Molecular mass:
    52949 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EPHX1 Gene

Proteomics data for EPHX1 Gene at MOPED

Post-translational modifications for EPHX1 Gene

  • Ubiquitination at Lys 52
  • Modification sites at PhosphoSitePlus

Other Protein References for EPHX1 Gene

No data available for DME Specific Peptides for EPHX1 Gene

Domains & Families for EPHX1 Gene

Suggested Antigen Peptide Sequences for EPHX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase S33 family.
  • Belongs to the peptidase S33 family.
genes like me logo Genes that share domains with EPHX1: view

No data available for Gene Families for EPHX1 Gene

Function for EPHX1 Gene

Molecular function for EPHX1 Gene

GENATLAS Biochemistry:
epoxide hydroxylase,microsomal (xenobiotic)
UniProtKB/Swiss-Prot CatalyticActivity:
Cis-stilbene oxide + H(2)O = (+)-(1R,2R)-1,2-diphenylethane-1,2-diol.
UniProtKB/Swiss-Prot Function:
Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water.

Enzyme Numbers (IUBMB) for EPHX1 Gene

Phenotypes for EPHX1 Gene

MGI mutant phenotypes for EPHX1:
inferred from 1 alleles
GenomeRNAi human phenotypes for EPHX1:
genes like me logo Genes that share phenotypes with EPHX1: view

Human Phenotype Ontology for EPHX1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPHX1 Gene

MGI Knock Outs for EPHX1:

Animal Model Products

CRISPR Products

miRNA for EPHX1 Gene

miRTarBase miRNAs that target EPHX1

No data available for Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for EPHX1 Gene

Localization for EPHX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHX1 Gene

Microsome membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein.

Subcellular locations from

Jensen Localization Image for EPHX1 Gene COMPARTMENTS Subcellular localization image for EPHX1 gene
Compartment Confidence
endoplasmic reticulum 5
nucleus 2
cytosol 1
extracellular 1
golgi apparatus 1
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for EPHX1 Gene

Pathways & Interactions for EPHX1 Gene

genes like me logo Genes that share pathways with EPHX1: view

Gene Ontology (GO) - Biological Process for EPHX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006725 cellular aromatic compound metabolic process IEA --
GO:0009636 response to toxic substance IEA --
GO:0014070 response to organic cyclic compound IEA --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with EPHX1: view

No data available for SIGNOR curated interactions for EPHX1 Gene

Drugs & Compounds for EPHX1 Gene

(22) Drugs for EPHX1 Gene - From: PharmGKB, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbamazepine Approved, Investigational Pharma 128
Phenytoin Approved Pharma Pore Blocker 74
Warfarin Approved Pharma 435
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum 2569
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2701

(66) Additional Compounds for EPHX1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
cis-stilbene oxide
(1S,2R)-Naphthalene 1,2-oxide
genes like me logo Genes that share compounds with EPHX1: view

Transcripts for EPHX1 Gene

Unigene Clusters for EPHX1 Gene

Epoxide hydrolase 1, microsomal (xenobiotic):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPHX1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12
SP2: - - -
SP3: - - - - -
SP6: - - -
SP7: - -

Relevant External Links for EPHX1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EPHX1 Gene

mRNA expression in normal human tissues for EPHX1 Gene

mRNA differential expression in normal tissues according to GTEx for EPHX1 Gene

This gene is overexpressed in Adrenal Gland (x8.6) and Liver (x8.0).

Protein differential expression in normal tissues from HIPED for EPHX1 Gene

This gene is overexpressed in Adrenal (14.3), Nasal epithelium (12.6), and Liver (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPHX1 Gene

SOURCE GeneReport for Unigene cluster for EPHX1 Gene Hs.89649

mRNA Expression by UniProt/SwissProt for EPHX1 Gene

Tissue specificity: Found in liver.
genes like me logo Genes that share expression patterns with EPHX1: view

Protein tissue co-expression partners for EPHX1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for EPHX1 Gene

Orthologs for EPHX1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EPHX1 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia EPHX1 35
  • 87.58 (n)
  • 85.59 (a)
EPHX1 36
  • 86 (a)
(Canis familiaris)
Mammalia EPHX1 35
  • 86.36 (n)
  • 85.62 (a)
EPHX1 36
  • 85 (a)
(Mus musculus)
Mammalia Ephx1 35
  • 84.54 (n)
  • 83.52 (a)
Ephx1 16
Ephx1 36
  • 84 (a)
(Pan troglodytes)
Mammalia EPHX1 35
  • 99.48 (n)
  • 98.89 (a)
EPHX1 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Ephx1 35
  • 83.81 (n)
  • 84.18 (a)
(Monodelphis domestica)
Mammalia EPHX1 36
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia EPHX1 36
  • 65 (a)
(Gallus gallus)
Aves EPHX1 35
  • 65.71 (n)
  • 65.56 (a)
EPHX1 36
  • 63 (a)
(Anolis carolinensis)
Reptilia EPHX1 36
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ephx1 35
  • 67.47 (n)
  • 63.08 (a)
(Danio rerio)
Actinopterygii ephx1 35
  • 63.49 (n)
  • 62.08 (a)
zgc56126 35
ephx1 36
  • 62 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9671 35
fruit fly
(Drosophila melanogaster)
Insecta Jheh2 37
  • 42 (a)
Jheh3 37
  • 38 (a)
Jheh2 35
  • 52.67 (n)
  • 42.21 (a)
Jheh1 36
  • 38 (a)
Jheh2 36
  • 40 (a)
Jheh3 36
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008686 35
  • 52.62 (n)
  • 44.31 (a)
(Caenorhabditis elegans)
Secernentea C45B11.2 37
  • 30 (a)
W01A11.1 37
  • 46 (a)
W01A11.1 35
  • 53.09 (n)
  • 49.31 (a)
C45B11.6 36
  • 29 (a)
W01A11.1 36
  • 45 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08783 35
  • 49.01 (n)
  • 33.6 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
Species with no ortholog for EPHX1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPHX1 Gene

Gene Tree for EPHX1 (if available)
Gene Tree for EPHX1 (if available)

Paralogs for EPHX1 Gene

No data available for Paralogs for EPHX1 Gene

Variants for EPHX1 Gene

Sequence variations from dbSNP and Humsavar for EPHX1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1051740 - 225,831,932(+) ACAGA(C/T)ACCCT reference, missense
rs2234922 - 225,838,705(+) AGGCC(A/G/T)TACCC reference, missense
VAR_005297 -
rs2234697 - 225,828,874(+) GCATC(C/T)GCCCT reference, missense
VAR_013299 -

Structural Variations from Database of Genomic Variants (DGV) for EPHX1 Gene

Variant ID Type Subtype PubMed ID
nsv524126 CNV Gain 19592680
esv7173 CNV Loss 19470904
esv2723929 CNV Deletion 23290073
esv2665287 CNV Deletion 23128226
esv2723940 CNV Deletion 23290073
nsv159413 CNV Loss 16902084
esv1580917 CNV Deletion 17803354
esv2723951 CNV Deletion 23290073
nsv873231 CNV Loss 21882294
nsv520628 CNV Loss 19592680

Variation tolerance for EPHX1 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.81; 96.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPHX1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHX1 Gene

Disorders for EPHX1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for EPHX1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypercholanemia, familial
  • familial hypercholanemia
preeclampsia/eclampsia 1
  • preeclampsia
ephx1-related familial hypercholanemia
  • eclampsia in puerperium
  • preeclampsia
- elite association - COSMIC cancer census association via MalaCards
Search EPHX1 in MalaCards View complete list of genes associated with diseases


  • Familial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. {ECO:0000269 PubMed:12878321}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=In some populations, the high activity haplotype tyr113/his139 is overrepresented among women suffering from pregnancy-induced hypertension (pre-eclampsia) when compared with healthy controls. {ECO:0000269 PubMed:12173035}.

Genatlas disease for EPHX1 Gene

fetal hydantoin syndrome,susceptibility (epoxide hydrolase low activity)

Relevant External Links for EPHX1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with EPHX1: view

Publications for EPHX1 Gene

  1. Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia. (PMID: 12173035) Laasanen J. … Heinonen S. (Eur. J. Hum. Genet. 2002) 3 4 48 67
  2. Role of the CYP2D6, EPHX1, MPO, and NQO1 genes in the susceptibility to acute lymphoblastic leukemia in Brazilian children. (PMID: 19593802) Silveira V.d.a. .S. … Tone L.G. (Environ. Mol. Mutagen. 2010) 3 23
  3. Genetic factors (VKORC1, CYP2C9, EPHX1, and CYP4F2) are predictor variables for warfarin response in very elderly, frail inpatients. (PMID: 19794411) Pautas E. … Siguret V. (Clin. Pharmacol. Ther. 2010) 3 23
  4. Maternal EPHX1 polymorphisms and risk of phenytoin-induced congenital malformations. (PMID: 19952982) Azzato E.M. … Caporaso N.E. (Pharmacogenet. Genomics 2010) 3 23
  5. Functional polymorphisms of the microsomal epoxide hydrolase gene: a reappraisal on a early-onset lung cancer patients series. (PMID: 18571762) Graziano C. … Porfirio B. (Lung Cancer 2009) 3 23

Products for EPHX1 Gene

Sources for EPHX1 Gene