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Aliases for EPHX1 Gene

Aliases for EPHX1 Gene

  • Epoxide Hydrolase 1 2 3 5
  • Epoxide Hydrolase 1, Microsomal (Xenobiotic) 2 3
  • 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 Photodynamic therapy-induced NFE2L2 (NRF2) survival signaling. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G225822 1.9 FANTOM5 Ensembl ENCODE dbSUPER 40.6 +15.3 15299 5.3 FOXA2 MLX ARID4B ZNF48 YY1 TCF12 ZNF121 GLIS2 GATA2 SP5 EPHX1 TMEM63A LEFTY1 PYCR2 ENSG00000255835 ENSG00000248322 LEFTY2 LEFTY3 SRP9 GC01P225813
GH01G225815 1.5 Ensembl ENCODE dbSUPER 8.6 +7.3 7327 3.2 HDGF PKNOX1 ARNT DMAP1 YY1 ZNF121 ZNF766 GATA2 ZNF416 FOS TMEM63A ENSG00000255835 PYCR2 LEFTY2 ENSG00000248322 LEFTY1 EPHX1 ITPKB GC01P225813 ENSG00000242861
GH01G225809 1.7 Ensembl ENCODE dbSUPER 5.6 +2.3 2266 5.7 CREB3L1 MLX DMAP1 FEZF1 YY1 SLC30A9 ZNF416 ZNF548 ZNF263 SP3 ACBD3 ACBD3-AS1 PYCR2 ENSG00000255835 LEFTY2 ENSG00000248322 SDE2 LEFTY3 EPHX1 SRP9
GH01G225776 1.2 ENCODE 5.7 -31.8 -31826 4.2 CREB3L1 DMAP1 YY1 ZNF416 ZNF143 ZNF263 SP3 NFYC MEF2D ZNF610 ACBD3 ACBD3-AS1 LEFTY1 LEFTY3 EPHX1 SRP9
GH01G225828 0.6 dbSUPER 5.8 +19.3 19283 1.6 HNF4G ZBTB33 HNF4A EMSY ATF2 ZKSCAN1 LEFTY3 EPHX1 ENSG00000242861 GC01P225813
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000021018 426 1801 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 SLC30A9 ZNF416

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

Post-translational modifications for EPHX1 Gene

  • Ubiquitination at Lys52
  • 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

Gene Ontology (GO) - Molecular Function for EPHX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004301 epoxide hydrolase activity TAS 7516776
GO:0016787 hydrolase activity IEA --
GO:0033961 cis-stilbene-oxide hydrolase activity TAS --
genes like me logo Genes that share ontologies with EPHX1: view

Phenotypes for EPHX1 Gene

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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHX1

No data available for 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPHX1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EPHX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031090 organelle membrane IEA --
genes like me logo Genes that share ontologies with EPHX1: view

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:0006805 xenobiotic metabolic process TAS --
GO:0009636 response to toxic substance IEA --
GO:0014070 response to organic cyclic compound IEA --
GO:0019439 aromatic compound catabolic process IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbamazepine Approved, Investigational Pharma 132
Phenytoin Approved, Vet_approved Pharma Pore Blocker 77
Warfarin Approved Pharma 470
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2770
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 2935

(65) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHX1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EPHX1 Gene

Protein tissue co-expression partners for EPHX1 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPHX1 Gene:


SOURCE GeneReport for Unigene cluster for EPHX1 Gene:


mRNA Expression by UniProt/SwissProt for EPHX1 Gene:

Tissue specificity: Found in liver.

Evidence on tissue expression from TISSUES for EPHX1 Gene

  • Liver(4.8)
  • Nervous system(4.8)
  • Skin(4.4)
  • Lung(4.2)
  • Adrenal gland(2.6)
  • Kidney(2.6)
  • Muscle(2.4)
  • Eye(2.3)
  • Blood(2.2)
  • Intestine(2.2)
  • Pancreas(2.2)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHX1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • skeleton
  • urinary
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
  • chest wall
  • rib
  • rib cage
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
  • arm
  • femur
  • forearm
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • ulna
  • upper limb
  • skin
genes like me logo Genes that share expression patterns with EPHX1: view

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
(Pan troglodytes)
Mammalia EPHX1 34 35
  • 99.48 (n)
(Bos Taurus)
Mammalia EPHX1 35 34
  • 87.58 (n)
(Canis familiaris)
Mammalia EPHX1 34 35
  • 86.36 (n)
(Mus musculus)
Mammalia Ephx1 34 16 35
  • 84.54 (n)
(Rattus norvegicus)
Mammalia Ephx1 34
  • 83.81 (n)
(Monodelphis domestica)
Mammalia EPHX1 35
  • 67 (a)
(Ornithorhynchus anatinus)
Mammalia EPHX1 35
  • 65 (a)
(Gallus gallus)
Aves EPHX1 34 35
  • 65.71 (n)
(Anolis carolinensis)
Reptilia EPHX1 35
  • 61 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ephx1 34
  • 67.47 (n)
(Danio rerio)
Actinopterygii ephx1 34 35
  • 63.49 (n)
zgc56126 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9671 34
fruit fly
(Drosophila melanogaster)
Insecta Jheh2 36 34 35
  • 52.67 (n)
Jheh3 36 35
  • 38 (a)
Jheh1 35
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008686 34
  • 52.62 (n)
(Caenorhabditis elegans)
Secernentea W01A11.1 36 34 35
  • 53.09 (n)
C45B11.2 36
  • 30 (a)
C45B11.6 35
  • 29 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU08783 34
  • 49.01 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
Species where no ortholog for EPHX1 was found in the sources mined by GeneCards:
  • 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 drug-response 225,831,932(+) ACAGA(C/T)ACCCT reference, missense
rs2234922 drug-response 225,838,705(+) AGGCC(A/G/T)TACCC reference, missense
rs1000055447 -- 225,843,180(+) TGCGC(-/A)AAAGG intron-variant
rs1000109880 -- 225,835,361(+) CCACA(C/G)GTATG intron-variant
rs1000194442 -- 225,809,628(+) GCTTG(A/G)GCCCA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
dgv281n106 CNV deletion 24896259
esv1580917 CNV deletion 17803354
esv2665287 CNV deletion 23128226
esv2723929 CNV deletion 23290073
esv2723940 CNV deletion 23290073
esv2723951 CNV deletion 23290073
esv2762223 CNV gain 21179565
esv3547544 CNV deletion 23714750
esv3547555 CNV deletion 23714750
esv7173 CNV loss 19470904
nsv1069322 CNV deletion 25765185
nsv1146034 CNV deletion 26484159
nsv1147004 CNV deletion 26484159
nsv159413 CNV deletion 16902084
nsv520628 CNV loss 19592680
nsv524126 CNV gain 19592680
nsv954075 CNV deletion 24416366

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for EPHX1 Gene

MalaCards: The human disease database

(14) 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
fetal hydantoin syndrome
  • dilantin embryopathy
birth defects
- 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. 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 22 46 64
  2. 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 22 46 64
  3. Maternal EPHX1 polymorphisms and risk of phenytoin-induced congenital malformations. (PMID: 19952982) Azzato E.M. … Caporaso N.E. (Pharmacogenet. Genomics 2010) 3 22 46 64
  4. 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 22 46 64
  5. Genetic associations with hypoxemia and pulmonary arterial pressure in COPD. (PMID: 19017876) Castaldi P.J. … Silverman E.K. (Chest 2009) 3 22 46 64

Products for EPHX1 Gene

  • Addgene plasmids for EPHX1

Sources for EPHX1 Gene

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