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Protein

Epoxide hydrolase 1

Gene

EPHX1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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.

Catalytic activityi

Cis-stilbene oxide + H2O = (+)-(1R,2R)-1,2-diphenylethane-1,2-diol.

GO - Molecular functioni

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Aromatic hydrocarbons catabolism, Detoxification

Enzyme and pathway databases

BioCyciZFISH:HS07112-MONOMER.
BRENDAi3.3.2.9. 2681.
ReactomeiR-HSA-211945. Phase 1 - Functionalization of compounds.
SABIO-RKP07099.

Protein family/group databases

ESTHERihuman-EPHX1. Epoxide_hydrolase.
MEROPSiS33.971.

Chemistry databases

SwissLipidsiSLP:000001117.

Names & Taxonomyi

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

Organism-specific databases

HGNCiHGNC:3401. EPHX1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei2 – 20Helical; Signal-anchorSequence analysisAdd BLAST19

GO - Cellular componenti

Complete GO annotation...

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.

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.

PTM databases

iPTMnetiP07099.
PhosphoSitePlusiP07099.
SwissPalmiP07099.

Expressioni

Tissue specificityi

Found in liver.1 Publication

Gene expression databases

BgeeiENSG00000143819.
ExpressionAtlasiP07099. baseline and differential.
GenevisibleiP07099. HS.

Organism-specific databases

HPAiHPA020593.
HPA048847.

Interactioni

Protein-protein interaction databases

BioGridi108366. 29 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

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2565. Eukaryota.
COG0596. LUCA.
GeneTreeiENSGT00390000002210.
HOVERGENiHBG002366.
InParanoidiP07099.
KOiK01253.
OMAiRIYWENS.
OrthoDBiEOG091G0B5A.
PhylomeDBiP07099.
TreeFamiTF313813.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR000639. Epox_hydrolase-like.
IPR010497. Epoxide_hydro_N.
IPR016292. Epoxide_hydrolase.
[Graphical view]
PfamiPF06441. EHN. 1 hit.
[Graphical view]
PIRSFiPIRSF001112. Epoxide_hydrolase. 1 hit.
PRINTSiPR00412. EPOXHYDRLASE.
SUPFAMiSSF53474. SSF53474. 1 hit.

Sequencei

Sequence statusi: Complete.

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

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 → T.1 PublicationCorresponds to variant rs3738046dbSNPEnsembl.1
Natural variantiVAR_01834744E → Q.1 PublicationCorresponds to variant rs745306359dbSNPEnsembl.1
Natural variantiVAR_01329849R → C in allele EPHX1*2. 1 PublicationCorresponds to variant rs2234697dbSNPEnsembl.1
Natural variantiVAR_005295113Y → H in allele EPHX1*3; 55% of wild type enzyme activity. 5 PublicationsCorresponds to variant rs1051740dbSNPEnsembl.1
Natural variantiVAR_005296139H → R in allele EPHX1*4; 62% of wild type enzyme activity. 5 PublicationsCorresponds to variant rs2234922dbSNPEnsembl.1
Natural variantiVAR_013299260L → P in allele EPHX1*1G. 1 Publication1
Natural variantiVAR_051828275T → A.Corresponds to variant rs35073925dbSNPEnsembl.1
Natural variantiVAR_023304285V → L.1 PublicationCorresponds to variant rs45449793dbSNPEnsembl.1
Natural variantiVAR_005297396T → I Either a rare polymorphism or a sequencing error. 1 Publication1
Natural variantiVAR_023305408T → M.1 PublicationCorresponds to variant rs45495897dbSNPEnsembl.1
Natural variantiVAR_023306452L → Q.1 PublicationCorresponds to variant rs45563137dbSNPEnsembl.1
Natural variantiVAR_013300454R → Q in allele EPHX1*5. 1 PublicationCorresponds to variant rs2234701dbSNPEnsembl.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. Translation: CAH71994.1.
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

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. Translation: CAH71994.1.
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. 29 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.

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.
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.
OMAiRIYWENS.
OrthoDBiEOG091G0B5A.
PhylomeDBiP07099.
TreeFamiTF313813.

Enzyme and pathway databases

BioCyciZFISH:HS07112-MONOMER.
BRENDAi3.3.2.9. 2681.
ReactomeiR-HSA-211945. Phase 1 - Functionalization of compounds.
SABIO-RKP07099.

Miscellaneous databases

ChiTaRSiEPHX1. human.
GeneWikiiEPHX1.
GenomeRNAii2052.
PROiP07099.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000143819.
ExpressionAtlasiP07099. baseline and differential.
GenevisibleiP07099. HS.

Family and domain databases

Gene3Di3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR000639. Epox_hydrolase-like.
IPR010497. Epoxide_hydro_N.
IPR016292. Epoxide_hydrolase.
[Graphical view]
PfamiPF06441. EHN. 1 hit.
[Graphical view]
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 historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1988
Last sequence update: November 1, 1988
Last modified: November 2, 2016
This is version 175 of the entry and version 1 of the sequence. [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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.