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EPHX1 epoxide hydrolase 1 [ Homo sapiens (human) ]

Gene ID: 2052, updated on 2-Nov-2024

Summary

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Official Symbol
EPHX1provided by HGNC
Official Full Name
epoxide hydrolase 1provided by HGNC
Primary source
HGNC:HGNC:3401
See related
Ensembl:ENSG00000143819 MIM:132810; AllianceGenome:HGNC:3401
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
MEH; EPHX; EPOX; HYL1
Summary
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]
Expression
Broad expression in liver (RPKM 307.4), adrenal (RPKM 287.9) and 19 other tissues See more
Orthologs
mouse all
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Genomic context

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See EPHX1 in Genome Data Viewer
Location:
1q42.12
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (225810124..225845563)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (224998070..225033336)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225997826..226033264)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2629 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225969251-225969750 Neighboring gene signal recognition particle 9 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1859 Neighboring gene left-right determination factor 3, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226004679-226005506 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226005507-226006333 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226012583-226013259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226015269-226016122 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226033607-226034417 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2630 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:226037931-226038477 Neighboring gene transmembrane protein 63A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1860 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2631 Neighboring gene MPRA-validated peak731 silencer Neighboring gene MPRA-validated peak732 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226067686-226068636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2633 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226074845-226075561 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226077715-226078432 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:226078433-226079150 and GRCh37_chr1:226079151-226079866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226083967-226084730 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2635 Neighboring gene left-right determination factor 1 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226087020-226087782 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:226087783-226088545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:226094136-226094909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2637 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1863 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226102994-226103938 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:226103939-226104881 Neighboring gene microRNA 6741 Neighboring gene pyrroline-5-carboxylate reductase 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Microsomal epoxide hydrolase variants are not associated with risk of breast cancer. de Assis S, et al. Cancer Epidemiol Biomarkers Prev, 2002 Dec. PMID 12496064
  2. Maternal variation in EPHX1, a xenobiotic metabolism gene, is associated with childhood medulloblastoma: an exploratory case-parent triad study. Lupo PJ, et al. Pediatr Hematol Oncol, 2012 Nov. PMID 22994552, Free PMC Article
  3. Systematic review and meta-analysis of the relationship between EPHX1 polymorphisms and colorectal cancer risk. Liu F, et al. PLoS One, 2012. PMID 22928041, Free PMC Article
  4. DNA damage and susceptibility assessment in industrial workers exposed to styrene. Costa C, et al. J Toxicol Environ Health A, 2012. PMID 22788361
  5. Association between head and neck cancer and microsomal epoxide hydrolase genotypes. Wenghoefer M, et al. Arch Toxicol, 2003 Jan. PMID 12491039

See all (418) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. EPOXID HYDROLASE SINGLE GENE POLYMORPHISM (RS1051740) AND SEVERITY OF CHRONIC OBSTRUCTIVE DISEASE.
    Title: EPOXID HYDROLASE SINGLE GENE POLYMORPHISM (RS1051740) AND SEVERITY OF CHRONIC OBSTRUCTIVE DISEASE.
  2. Oxidative stress-related genes (EPHX1 and MnSOD) polymorphism and risk of pre-eclampsia: a meta-analysis.
    Title: Oxidative stress-related genes (EPHX1 and MnSOD) polymorphism and risk of pre-eclampsia: a meta-analysis.
  3. Genetic polymorphisms in the mEH gene in relation to tobacco smoking: role in lung cancer susceptibility and survival in north Indian patients with lung cancer undergoing platinum-based chemotherapy.
    Title: Genetic polymorphisms in the mEH gene in relation to tobacco smoking: role in lung cancer susceptibility and survival in north Indian patients with lung cancer undergoing platinum-based chemotherapy.
  4. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.
    Title: EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence.
  5. ABCB1 c.3435C > T and EPHX1 c.416A > G polymorphisms influence plasma carbamazepine concentration, metabolism, and pharmacoresistance in epileptic patients.
    Title: ABCB1 c.3435C > T and EPHX1 c.416A > G polymorphisms influence plasma carbamazepine concentration, metabolism, and pharmacoresistance in epileptic patients.
  6. Effects of EPHX1 rs2260863 polymorphisms on warfarin maintenance dose in very elderly, frail Han-Chinese population.
    Title: Effects of EPHX1 rs2260863 polymorphisms on warfarin maintenance dose in very elderly, frail Han-Chinese population.
  7. Relative Importance of Soluble and Microsomal Epoxide Hydrolases for the Hydrolysis of Epoxy-Fatty Acids in Human Tissues.
    Title: Relative Importance of Soluble and Microsomal Epoxide Hydrolases for the Hydrolysis of Epoxy-Fatty Acids in Human Tissues.
  8. Peroxisome proliferator-activated receptor a (PPARa)-cytochrome P450 epoxygenases-soluble epoxide hydrolase axis in ER + PR + HER2- breast cancer.
    Title: Peroxisome proliferator-activated receptor ɑ (PPARɑ)-cytochrome P450 epoxygenases-soluble epoxide hydrolase axis in ER + PR + HER2- breast cancer.
  9. Proteomic Analysis Reveals that EPHX1 Contributes to 5-Fluorouracil Resistance in a Human Hepatocellular Carcinoma Cell Line.
    Title: Proteomic Analysis Reveals that EPHX1 Contributes to 5-Fluorouracil Resistance in a Human Hepatocellular Carcinoma Cell Line.
  10. Soluble Epoxide Hydrolase in Aged Female Mice and Human Explanted Hearts Following Ischemic Injury.
    Title: Soluble Epoxide Hydrolase in Aged Female Mice and Human Explanted Hearts Following Ischemic Injury.
Submit: New GeneRIF Correction See all GeneRIFs (184)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: SRP9

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cis-stilbene-oxide hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cis-stilbene-oxide hydrolase activity TAS
Traceable Author Statement
more info
  
enables epoxide hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables epoxide hydrolase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxysterol binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in arachidonate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in arachidonate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in epoxide metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in epoxide metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hydrocarbon catabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in response to polycyclic arene IEA
Inferred from Electronic Annotation
more info
  
involved_in response to toxic substance IEA
Inferred from Electronic Annotation
more info
  
involved_in xenobiotic metabolic process TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
epoxide hydrolase 1
Names
epoxide hydratase
epoxide hydrolase 1 microsomal
epoxide hydrolase 1, microsomal (xenobiotic)
NP_000111.1
NP_001129490.1
NP_001278092.1
NP_001365355.1
NP_001365356.1
NP_001365357.1
NP_001365358.1
NP_001365359.1
NP_001365360.1
NP_001365361.1

NCBI Reference Sequences (RefSeq)

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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_009776.2 RefSeqGene

    Range
    5002..40441
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000120.4 → NP_000111.1  epoxide hydrolase 1 isoform a

    See identical proteins and their annotated locations for NP_000111.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript. Variants 1-5 all encode the longest isoform (a).
    Source sequence(s)
    BC008291, BJ994650, J03518
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    B2R8N0, P07099, Q5VTJ6, Q9NP75, Q9NPE7, Q9NQU6, Q9NQU7, Q9NQU8, Q9NQU9, Q9NQV0, Q9NQV1, Q9NQV2
    UniProtKB/TrEMBL
    A0A024R3P4, Q6FGZ3, R4SBI6
    Related
    ENSP00000355802.4, ENST00000366837.5
    Conserved Domains (2) summary
    pfam00561
    Location:142 → 404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 157
    EHN; Epoxide hydrolase N-terminus

  2. NM_001136018.4 → NP_001129490.1  epoxide hydrolase 1 isoform a

    See identical proteins and their annotated locations for NP_001129490.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate upstream 5' UTR exon, as compared to variant 1. Variants 1-5 all encode the longest isoform (a).
    Source sequence(s)
    AC099066, AL591895
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    B2R8N0, P07099, Q5VTJ6, Q9NP75, Q9NPE7, Q9NQU6, Q9NQU7, Q9NQU8, Q9NQU9, Q9NQV0, Q9NQV1, Q9NQV2
    UniProtKB/TrEMBL
    A0A024R3P4, Q6FGZ3, R4SBI6
    Related
    ENSP00000272167.5, ENST00000272167.10
    Conserved Domains (2) summary
    pfam00561
    Location:142 → 404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 157
    EHN; Epoxide hydrolase N-terminus

  3. NM_001291163.2 → NP_001278092.1  epoxide hydrolase 1 isoform a

    See identical proteins and their annotated locations for NP_001278092.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate upstream 5' UTR exon, as compared to variant 1. Variants 1-5 all encode the longest isoform (a).
    Source sequence(s)
    AC099066, AL591895
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    B2R8N0, P07099, Q5VTJ6, Q9NP75, Q9NPE7, Q9NQU6, Q9NQU7, Q9NQU8, Q9NQU9, Q9NQV0, Q9NQV1, Q9NQV2
    UniProtKB/TrEMBL
    A0A024R3P4, Q6FGZ3, R4SBI6
    Related
    ENSP00000480004.1, ENST00000614058.4
    Conserved Domains (2) summary
    pfam00561
    Location:142 → 404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 157
    EHN; Epoxide hydrolase N-terminus

  4. NM_001378426.1 → NP_001365355.1  epoxide hydrolase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform a.
    Source sequence(s)
    AC099066, AL591895
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    B2R8N0, P07099, Q5VTJ6, Q9NP75, Q9NPE7, Q9NQU6, Q9NQU7, Q9NQU8, Q9NQU9, Q9NQV0, Q9NQV1, Q9NQV2
    UniProtKB/TrEMBL
    A0A024R3P4, Q6FGZ3, R4SBI6
    Conserved Domains (2) summary
    pfam00561
    Location:142 → 404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 157
    EHN; Epoxide hydrolase N-terminus

  5. NM_001378427.1 → NP_001365356.1  epoxide hydrolase 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform a.
    Source sequence(s)
    AL591895
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    B2R8N0, P07099, Q5VTJ6, Q9NP75, Q9NPE7, Q9NQU6, Q9NQU7, Q9NQU8, Q9NQU9, Q9NQV0, Q9NQV1, Q9NQV2
    UniProtKB/TrEMBL
    A0A024R3P4, Q6FGZ3, R4SBI6
    Conserved Domains (2) summary
    pfam00561
    Location:142 → 404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 157
    EHN; Epoxide hydrolase N-terminus

  6. NM_001378428.1 → NP_001365357.1  epoxide hydrolase 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL591895
    UniProtKB/TrEMBL
    Q6FGZ3
    Conserved Domains (2) summary
    pfam00561
    Location:133 → 395
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 148
    EHN; Epoxide hydrolase N-terminus

  7. NM_001378429.1 → NP_001365358.1  epoxide hydrolase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform c.
    Source sequence(s)
    AC099066, AL591895
    UniProtKB/TrEMBL
    Q6FGZ3
    Conserved Domains (2) summary
    pfam00561
    Location:142 → 388
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 157
    EHN; Epoxide hydrolase N-terminus

  8. NM_001378430.1 → NP_001365359.1  epoxide hydrolase 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform c.
    Source sequence(s)
    AL591895
    UniProtKB/TrEMBL
    Q6FGZ3
    Conserved Domains (2) summary
    pfam00561
    Location:142 → 388
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48 → 157
    EHN; Epoxide hydrolase N-terminus

  9. NM_001378431.1 → NP_001365360.1  epoxide hydrolase 1 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC099066, AL591895
    UniProtKB/TrEMBL
    Q6FGZ3
    Conserved Domains (2) summary
    pfam06441
    Location:48 → 124
    EHN; Epoxide hydrolase N-terminus
    cl21494
    Location:121 → 328
    Abhydrolase; alpha/beta hydrolases

  10. NM_001378432.1 → NP_001365361.1  epoxide hydrolase 1 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC099066, AL591895
    Conserved Domains (1) summary
    pfam06441
    Location:48 → 122
    EHN; Epoxide hydrolase N-terminus

RNA

  1. NR_165624.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099066, AL591895

  2. NR_165625.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099066, AL591895

  3. NR_165626.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC099066, AL591895

  4. NR_165627.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL591895

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    225810124..225845563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    224998070..225033336
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P07099.1 GenPept UniProtKB/Swiss-Prot:P07099

Gene LinkOut

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