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    EPHX1 epoxide hydrolase 1 [ Homo sapiens (human) ]

    Gene ID: 2052, updated on 5-May-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (225810124..225845563)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (224998070..225033336)
    105.20220307 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
    • 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. EPOXID HYDROLASE SINGLE GENE POLYMORPHISM (RS1051740) AND SEVERITY OF CHRONIC OBSTRUCTIVE DISEASE. Antonova I, et al. Wiad Lek, 2022. PMID 36591768
    2. 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. Walia HK, et al. Future Oncol, 2021 Dec. PMID 34672683
    3. EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence. Gautheron J, et al. Elife, 2021 Aug 3. PMID 34342583, Free PMC Article
    4. Effects of EPHX1 rs2260863 polymorphisms on warfarin maintenance dose in very elderly, frail Han-Chinese population. Lin X, et al. Pharmacogenomics, 2020 Aug. PMID 32559398
    5. Proteomic Analysis Reveals that EPHX1 Contributes to 5-Fluorouracil Resistance in a Human Hepatocellular Carcinoma Cell Line. Sun R, et al. Proteomics Clin Appl, 2020 Jul. PMID 32067389

    See all (408) 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 arachidonic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in arachidonic acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 response to organic cyclic compound 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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    NEW Try the new Transcript table

    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_2023_10

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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