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EPHX1 epoxide hydrolase 1, microsomal (xenobiotic) [ Homo sapiens (human) ]

Gene ID: 2052, updated on 17-May-2015
Official Symbol
EPHX1provided by HGNC
Official Full Name
epoxide hydrolase 1, microsomal (xenobiotic)provided by HGNC
Primary source
HGNC:HGNC:3401
See related
Ensembl:ENSG00000143819; HPRD:00581; MIM:132810; Vega:OTTHUMG00000037743
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]
Orthologs
See EPHX1 in MapViewer
Location:
1q42.1
Exon count:
10
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (225810074..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 9kDa Neighboring gene left-right determination factor 2 pseudogene Neighboring gene transmembrane protein 63A Neighboring gene left-right determination factor 1 Neighboring gene uncharacterized LOC105373111

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: SRP9

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cis-stilbene-oxide hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
epoxide hydrolase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
aromatic compound catabolic process IEA
Inferred from Electronic Annotation
more info
 
response to organic cyclic compound IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
epoxide hydrolase 1
Names
epoxide hydrolase 1
epoxide hydratase
NP_000111.1
NP_001129490.1
NP_001278092.1

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_000120.3NP_000111.1  epoxide hydrolase 1

    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, 2 and 3 encode the same protein.
    Source sequence(s)
    BC008291, BJ994650, J03518
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    P07099
    UniProtKB/TrEMBL
    R4SBI6
    Related
    ENSP00000355802, OTTHUMP00000035867, ENST00000366837, OTTHUMT00000092064
    Conserved Domains (3) summary
    pfam00561
    Location:178395
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:49161
    EHN; Epoxide hydrolase N terminus
    cl21494
    Location:124248
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. NM_001136018.3NP_001129490.1  epoxide hydrolase 1

    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, 2 and 3 encode the same protein.
    Source sequence(s)
    BC008291, HY180507
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    P07099
    UniProtKB/TrEMBL
    R4SBI6
    Related
    ENSP00000272167, ENST00000272167
    Conserved Domains (3) summary
    pfam00561
    Location:178395
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:49161
    EHN; Epoxide hydrolase N terminus
    cl21494
    Location:124248
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  3. NM_001291163.1NP_001278092.1  epoxide hydrolase 1

    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, 2 and 3 encode the same protein.
    Source sequence(s)
    BU541640, KF032815
    Consensus CDS
    CCDS1547.1
    UniProtKB/Swiss-Prot
    P07099
    UniProtKB/TrEMBL
    R4SBI6
    Related
    ENSP00000480004, ENST00000614058
    Conserved Domains (3) summary
    pfam00561
    Location:178395
    Abhydrolase_1; alpha/beta hydrolase fold
    pfam06441
    Location:49161
    EHN; Epoxide hydrolase N terminus
    cl21494
    Location:124248
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    225810074..225845563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    227270100..227305585
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)