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EPHX1 epoxide hydrolase 1 [ Homo sapiens (human) ]

Gene ID: 2052, updated on 14-Jun-2020

Summary

Official Symbol
EPHX1provided by HGNC
Official Full Name
epoxide hydrolase 1provided by HGNC
Primary source
HGNC:HGNC:3401
See related
Ensembl:ENSG00000143819 MIM:132810
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

Genomic context

See EPHX1 in Genome Data Viewer
Location:
1q42.12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (225810124..225845563)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225997797..226033264)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene signal recognition particle 9 Neighboring gene left-right determination factor 2 pseudogene Neighboring gene transmembrane protein 63A Neighboring gene left-right determination factor 1 Neighboring gene microRNA 6741 Neighboring gene pyrroline-5-carboxylate reductase 2

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SRP9

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cis-stilbene-oxide hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
cis-stilbene-oxide hydrolase activity TAS
Traceable Author Statement
more info
 
epoxide hydrolase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
arachidonic acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
aromatic compound catabolic process IEA
Inferred from Electronic Annotation
more info
 
epoxide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

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_009776.1 RefSeqGene

    Range
    4980..40468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000120.4NP_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
    P07099
    UniProtKB/TrEMBL
    R4SBI6
    Related
    ENSP00000355802.4, ENST00000366837.5
    Conserved Domains (2) summary
    pfam00561
    Location:142404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48157
    EHN; Epoxide hydrolase N terminus
  2. NM_001136018.4NP_001129490.1  epoxide hydrolase 1 isoform a precursor

    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
    P07099
    UniProtKB/TrEMBL
    R4SBI6
    Related
    ENSP00000272167.5, ENST00000272167.9
    Conserved Domains (2) summary
    pfam00561
    Location:142404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48157
    EHN; Epoxide hydrolase N terminus
  3. NM_001291163.2NP_001278092.1  epoxide hydrolase 1 isoform a precursor

    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
    P07099
    UniProtKB/TrEMBL
    R4SBI6
    Related
    ENSP00000480004.1, ENST00000614058.4
    Conserved Domains (2) summary
    pfam00561
    Location:142404
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:48157
    EHN; Epoxide hydrolase N terminus
  4. NM_001378426.1NP_001365355.1  epoxide hydrolase 1 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variants 1-3 and 5, encodes isoform a.
    Source sequence(s)
    AC099066, AL591895
  5. NM_001378427.1NP_001365356.1  epoxide hydrolase 1 isoform a precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5), as well as variants 1-4, encodes isoform a.
    Source sequence(s)
    AL591895
  6. NM_001378428.1NP_001365357.1  epoxide hydrolase 1 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL591895
  7. NM_001378429.1NP_001365358.1  epoxide hydrolase 1 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7), as well as variant 8, encodes isoform c.
    Source sequence(s)
    AC099066, AL591895
  8. NM_001378430.1NP_001365359.1  epoxide hydrolase 1 isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8), as well as variant 7, encodes isoform c.
    Source sequence(s)
    AL591895
  9. NM_001378431.1NP_001365360.1  epoxide hydrolase 1 isoform d precursor

    Status: REVIEWED

    Source sequence(s)
    AC099066, AL591895
  10. NM_001378432.1NP_001365361.1  epoxide hydrolase 1 isoform e precursor

    Status: REVIEWED

    Source sequence(s)
    AC099066, AL591895

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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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