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Protein

Epoxide hydrolase 1

Gene

EPHX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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 (By similarity). May play a role in the metabolism of endogenous lipids such as epoxide-containing fatty acids (PubMed:22798687).By similarity1 Publication

Catalytic activityi

Cis-stilbene oxide + H2O = (1R,2R)-1,2-diphenylethane-1,2-diol.By similarity
1-(4-methoxyphenyl)-N-methyl-N-((3-methyloxetan-3-yl)methyl)methanamine + H2O = 2-((((4-methoxyphenyl)methyl)(methyl)amino)methyl)-2-methylpropane-1,3-diol.By similarity

Kineticsi

  1. KM=0.8 µM for 8,9-EET1 Publication
  2. KM=0.4 µM for 11,12-EET1 Publication
  3. KM=0.9 µM for 14,15-EET1 Publication
  4. KM=5.8 µM for leukotoxin1 Publication
  1. Vmax=0.12 µmol/min/mg enzyme with 8,9-EET as substrate1 Publication
  2. Vmax=0.6 µmol/min/mg enzyme with 11,12-EET as substrate1 Publication
  3. Vmax=0.04 µmol/min/mg enzyme with 14,15-EET as substrate1 Publication
  4. Vmax=0.008 µmol/min/mg enzyme with leukotoxin as substrate1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei226NucleophileBy similarity1
Active sitei374Proton donorBy similarity1
Active sitei431Proton acceptorBy similarity1

GO - Molecular functioni

  • cis-stilbene-oxide hydrolase activity Source: Reactome
  • epoxide hydrolase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionHydrolase
Biological processAromatic hydrocarbons catabolism, Detoxification

Enzyme and pathway databases

BioCyciMetaCyc:HS07112-MONOMER
BRENDAi3.3.2.9 2681
ReactomeiR-HSA-211945 Phase I - Functionalization of compounds
SABIO-RKiP07099

Protein family/group databases

ESTHERihuman-EPHX1 Epoxide_hydrolase
MEROPSiS33.971

Chemistry databases

SwissLipidsiSLP:000001117

Names & Taxonomyi

Protein namesi
Recommended name:
Epoxide hydrolase 1 (EC:3.3.2.9By similarity)
Alternative name(s):
Epoxide hydratase
Microsomal epoxide hydrolase
Short name:
mEHCurated
Gene namesi
Name:EPHX1
Synonyms:EPHX, EPOX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000143819.12
HGNCiHGNC:3401 EPHX1
MIMi132810 gene+phenotype
neXtProtiNX_P07099

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei1 – 21Helical; Signal-anchor for type III membrane proteinBy similarityAdd BLAST21
Topological domaini22 – 455CytoplasmicBy similarityAdd BLAST434

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Microsome

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Familial hypercholanemia (FHCA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
See also OMIM:607748

Organism-specific databases

DisGeNETi2052
MalaCardsiEPHX1
MIMi132810 gene+phenotype
607748 phenotype
OpenTargetsiENSG00000143819
Orphaneti238475 Familial hypercholanemia
1912 Fetal hydantoin syndrome
PharmGKBiPA27829

Chemistry databases

ChEMBLiCHEMBL1968

Polymorphism and mutation databases

BioMutaiEPHX1
DMDMi123926

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000808551 – 455Epoxide hydrolase 1Add BLAST455

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei295Dimethylated arginine; alternateBy similarity1
Modified residuei295Omega-N-methylated arginine; alternateBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

EPDiP07099
PaxDbiP07099
PeptideAtlasiP07099
PRIDEiP07099
ProteomicsDBi51949

PTM databases

iPTMnetiP07099
PhosphoSitePlusiP07099
SwissPalmiP07099

Expressioni

Tissue specificityi

Found in liver.1 Publication

Gene expression databases

BgeeiENSG00000143819 Expressed in 218 organ(s), highest expression level in adrenal gland
ExpressionAtlasiP07099 baseline and differential
GenevisibleiP07099 HS

Organism-specific databases

HPAiHPA020593
HPA048847

Interactioni

Protein-protein interaction databases

BioGridi108366, 33 interactors
IntActiP07099, 2 interactors
STRINGi9606.ENSP00000272167

Chemistry databases

BindingDBiP07099

Structurei

3D structure databases

ProteinModelPortaliP07099
SMRiP07099
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the peptidase S33 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2565 Eukaryota
COG0596 LUCA
GeneTreeiENSGT00390000002210
HOVERGENiHBG002366
InParanoidiP07099
KOiK01253
OMAiYSLMRES
OrthoDBiEOG091G0B5A
PhylomeDBiP07099
TreeFamiTF313813

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000639 Epox_hydrolase-like
IPR010497 Epoxide_hydro_N
IPR016292 Epoxide_hydrolase
PfamiView protein in Pfam
PF06441 EHN, 1 hit
PIRSFiPIRSF001112 Epoxide_hydrolase, 1 hit
PRINTSiPR00412 EPOXHYDRLASE
SUPFAMiSSF53474 SSF53474, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P07099-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP
60 70 80 90 100
FKVETSDEEI HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE
110 120 130 140 150
FDWKKQVEIL NRYPHFKTKI EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW
160 170 180 190 200
PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV ICPSIPGYGF SEASSKKGFN
210 220 230 240 250
SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP SHVKGLHLNM
260 270 280 290 300
ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
310 320 330 340 350
HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS
360 370 380 390 400
LDDLLTNVML YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA
410 420 430 440 450
FPFELLHTPE KWVRFKYPKL ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS

VLERQ
Length:455
Mass (Da):52,949
Last modified:November 1, 1988 - v1
Checksum:i88E333838C841390
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B1AQP9B1AQP9_HUMAN
Epoxide hydrolase 1
EPHX1
161Annotation score:
B1AQP8B1AQP8_HUMAN
Epoxide hydrolase 1
EPHX1
136Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti15I → V in BAG36227 (PubMed:14702039).Curated1
Sequence conflicti112R → K (Ref. 10) Curated1
Sequence conflicti148H → N (PubMed:3502697).Curated1
Sequence conflicti148H → N (Ref. 10) Curated1
Sequence conflicti243V → L (Ref. 10) Curated1
Sequence conflicti348K → S in CAA68486 (PubMed:3502697).Curated1
Sequence conflicti406L → F in CAA68486 (PubMed:3502697).Curated1
Sequence conflicti420L → V in CAA68486 (PubMed:3502697).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02330343R → T1 PublicationCorresponds to variant dbSNP:rs3738046Ensembl.1
Natural variantiVAR_01834744E → Q1 PublicationCorresponds to variant dbSNP:rs745306359Ensembl.1
Natural variantiVAR_01329849R → C in allele EPHX1*2. 1 PublicationCorresponds to variant dbSNP:rs2234697Ensembl.1
Natural variantiVAR_005295113Y → H in allele EPHX1*3; 55% of wild type enzyme activity. 5 PublicationsCorresponds to variant dbSNP:rs1051740EnsemblClinVar.1
Natural variantiVAR_005296139H → R in allele EPHX1*4; 62% of wild type enzyme activity. 5 PublicationsCorresponds to variant dbSNP:rs2234922EnsemblClinVar.1
Natural variantiVAR_013299260L → P in allele EPHX1*1G. 1 Publication1
Natural variantiVAR_051828275T → A. Corresponds to variant dbSNP:rs35073925Ensembl.1
Natural variantiVAR_023304285V → L1 PublicationCorresponds to variant dbSNP:rs45449793Ensembl.1
Natural variantiVAR_005297396T → I Either a rare polymorphism or a sequencing error. 1 Publication1
Natural variantiVAR_023305408T → M1 PublicationCorresponds to variant dbSNP:rs45495897Ensembl.1
Natural variantiVAR_023306452L → Q1 PublicationCorresponds to variant dbSNP:rs45563137Ensembl.1
Natural variantiVAR_013300454R → Q in allele EPHX1*5. 1 PublicationCorresponds to variant dbSNP:rs2234701Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03518 mRNA Translation: AAA61305.1
X07936 mRNA Translation: CAA30759.1
Y00424 mRNA Translation: CAA68486.1
L25878 mRNA Translation: AAA52389.1
L25879 mRNA Translation: AAA52390.1
U06661
, U06656, U06657, U06658, U06659, U06660 Genomic DNA Translation: AAB60649.1
AK313436 mRNA Translation: BAG36227.1
AY948961 Genomic DNA Translation: AAX81410.1
AL591895 Genomic DNA No translation available.
BC003567 mRNA Translation: AAH03567.1
BC008291 mRNA Translation: AAH08291.1
BC095430 mRNA Translation: AAH95430.1
M36374 mRNA Translation: AAA59580.1
AF253417 Genomic DNA Translation: AAC41694.1
AF276626 Genomic DNA Translation: AAF87726.1
AF276627 Genomic DNA Translation: AAF87727.1
AF276628 Genomic DNA Translation: AAF87728.1
AF276629 Genomic DNA Translation: AAF87729.1
AF276630 Genomic DNA Translation: AAF87730.1
AF276631 Genomic DNA Translation: AAF87731.1
AF276632 Genomic DNA Translation: AAF87732.1
AF276633 Genomic DNA Translation: AAF87733.1
AF276634 Genomic DNA Translation: AAF87734.1
AF276635 Genomic DNA Translation: AAF87735.1
AF276636 Genomic DNA Translation: AAF87736.1
AF276637 Genomic DNA Translation: AAF87737.1
AF276638 Genomic DNA Translation: AAF87738.1
CCDSiCCDS1547.1
PIRiA29939
RefSeqiNP_000111.1, NM_000120.3
NP_001129490.1, NM_001136018.3
NP_001278092.1, NM_001291163.1
UniGeneiHs.89649

Genome annotation databases

EnsembliENST00000272167; ENSP00000272167; ENSG00000143819
ENST00000366837; ENSP00000355802; ENSG00000143819
ENST00000614058; ENSP00000480004; ENSG00000143819
GeneIDi2052
KEGGihsa:2052

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03518 mRNA Translation: AAA61305.1
X07936 mRNA Translation: CAA30759.1
Y00424 mRNA Translation: CAA68486.1
L25878 mRNA Translation: AAA52389.1
L25879 mRNA Translation: AAA52390.1
U06661
, U06656, U06657, U06658, U06659, U06660 Genomic DNA Translation: AAB60649.1
AK313436 mRNA Translation: BAG36227.1
AY948961 Genomic DNA Translation: AAX81410.1
AL591895 Genomic DNA No translation available.
BC003567 mRNA Translation: AAH03567.1
BC008291 mRNA Translation: AAH08291.1
BC095430 mRNA Translation: AAH95430.1
M36374 mRNA Translation: AAA59580.1
AF253417 Genomic DNA Translation: AAC41694.1
AF276626 Genomic DNA Translation: AAF87726.1
AF276627 Genomic DNA Translation: AAF87727.1
AF276628 Genomic DNA Translation: AAF87728.1
AF276629 Genomic DNA Translation: AAF87729.1
AF276630 Genomic DNA Translation: AAF87730.1
AF276631 Genomic DNA Translation: AAF87731.1
AF276632 Genomic DNA Translation: AAF87732.1
AF276633 Genomic DNA Translation: AAF87733.1
AF276634 Genomic DNA Translation: AAF87734.1
AF276635 Genomic DNA Translation: AAF87735.1
AF276636 Genomic DNA Translation: AAF87736.1
AF276637 Genomic DNA Translation: AAF87737.1
AF276638 Genomic DNA Translation: AAF87738.1
CCDSiCCDS1547.1
PIRiA29939
RefSeqiNP_000111.1, NM_000120.3
NP_001129490.1, NM_001136018.3
NP_001278092.1, NM_001291163.1
UniGeneiHs.89649

3D structure databases

ProteinModelPortaliP07099
SMRiP07099
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108366, 33 interactors
IntActiP07099, 2 interactors
STRINGi9606.ENSP00000272167

Chemistry databases

BindingDBiP07099
ChEMBLiCHEMBL1968
SwissLipidsiSLP:000001117

Protein family/group databases

ESTHERihuman-EPHX1 Epoxide_hydrolase
MEROPSiS33.971

PTM databases

iPTMnetiP07099
PhosphoSitePlusiP07099
SwissPalmiP07099

Polymorphism and mutation databases

BioMutaiEPHX1
DMDMi123926

Proteomic databases

EPDiP07099
PaxDbiP07099
PeptideAtlasiP07099
PRIDEiP07099
ProteomicsDBi51949

Protocols and materials databases

DNASUi2052
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000272167; ENSP00000272167; ENSG00000143819
ENST00000366837; ENSP00000355802; ENSG00000143819
ENST00000614058; ENSP00000480004; ENSG00000143819
GeneIDi2052
KEGGihsa:2052

Organism-specific databases

CTDi2052
DisGeNETi2052
EuPathDBiHostDB:ENSG00000143819.12
GeneCardsiEPHX1
HGNCiHGNC:3401 EPHX1
HPAiHPA020593
HPA048847
MalaCardsiEPHX1
MIMi132810 gene+phenotype
607748 phenotype
neXtProtiNX_P07099
OpenTargetsiENSG00000143819
Orphaneti238475 Familial hypercholanemia
1912 Fetal hydantoin syndrome
PharmGKBiPA27829
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2565 Eukaryota
COG0596 LUCA
GeneTreeiENSGT00390000002210
HOVERGENiHBG002366
InParanoidiP07099
KOiK01253
OMAiYSLMRES
OrthoDBiEOG091G0B5A
PhylomeDBiP07099
TreeFamiTF313813

Enzyme and pathway databases

BioCyciMetaCyc:HS07112-MONOMER
BRENDAi3.3.2.9 2681
ReactomeiR-HSA-211945 Phase I - Functionalization of compounds
SABIO-RKiP07099

Miscellaneous databases

ChiTaRSiEPHX1 human
GeneWikiiEPHX1
GenomeRNAii2052
PROiPR:P07099
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143819 Expressed in 218 organ(s), highest expression level in adrenal gland
ExpressionAtlasiP07099 baseline and differential
GenevisibleiP07099 HS

Family and domain databases

Gene3Di3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058 AB_hydrolase
IPR000639 Epox_hydrolase-like
IPR010497 Epoxide_hydro_N
IPR016292 Epoxide_hydrolase
PfamiView protein in Pfam
PF06441 EHN, 1 hit
PIRSFiPIRSF001112 Epoxide_hydrolase, 1 hit
PRINTSiPR00412 EPOXHYDRLASE
SUPFAMiSSF53474 SSF53474, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHYEP_HUMAN
AccessioniPrimary (citable) accession number: P07099
Secondary accession number(s): B2R8N0
, Q5VTJ6, Q9NP75, Q9NPE7, Q9NQU6, Q9NQU7, Q9NQU8, Q9NQU9, Q9NQV0, Q9NQV1, Q9NQV2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: November 1, 1988
Last modified: September 12, 2018
This is version 187 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Peptidase families
    Classification of peptidase families and list of entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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