human-EPHX1

Homo sapiens (Human) microsomal epoxide hydrolase HYEP mEH, epoxide hydratase EPHX1

Comment

Epoxide hydrolases (EC 3.3.2.3) play an important role in both the activation and detoxification of exogenous chemicals such as polycyclic aromatic hydrocarbons. Mutant form of microsomal epoxide hydrolase is the molecular basis for abnormal reactions to phenytoin (diphenylhydantoin, dilantin) and some other drugs. Hydantoin used during pregnancy for seizure prophylaxis can result in children with the fetal hydantoin syndrome (FHS)(major birth defects including congenital heart disease, cleft lip\/palate, microcephaly, and major genitourinary, eye, and limb defects) Defect in hydroxylation of diphenylhydantoin is related to a mutation in human-EPHX1 resulting in low activity. Familial hypercholanemia is characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. In a patient with hypercholanemia. Zhu et al. (2003) identified compound heterozygosity for 2 mutations in the EPHX1 gene, which resulted in a significant decrease in EPHX1 promoter activity

Relationship

Family : Epoxide_hydrolase

Block : X

Position in NCBI Life Tree : Homo sapiens

(Below N is a link to NCBI taxonomic web page and E link to ESTHER at designed phylum.)

> cellular organisms N E > Eukaryota N E > Opisthokonta N E > Metazoa N E > Eumetazoa N E > Bilateria N E > Deuterostomia N E > Chordata N E > Craniata N E > Vertebrata N E > Gnathostomata N E > Teleostomi N E > Euteleostomi N E > Sarcopterygii N E > Dipnotetrapodomorpha N E > Tetrapoda N E > Amniota N E > Mammalia N E > Theria N E > Eutheria N E > Boreoeutheria N E > Euarchontoglires N E > Primates N E > Haplorrhini N E > Simiiformes N E > Catarrhini N E > Hominoidea N E > Hominidae N E > Homininae N E > Homo N E > Homo sapiens N E

Sequence

Peptide

MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRYPHFKTKI EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQ

References (20)

Title : Epoxid hydrolase single gene polymorphism (RS1051740) and severity of chronic obstructive disease - Antonova_2022_Wiad.Lek_75_2779
Author(s) : Antonova I , Gridnyev O , Galchinskaya V
Ref : Wiad Lek , 75 :2779 , 2022
PubMedID: 36591768
Gene_locus related to this paper: human-EPHX1

Title : EPHX1 mutations cause a lipoatrophic diabetes syndrome due to impaired epoxide hydrolysis and increased cellular senescence - Gautheron_2021_Elife_10_
Author(s) : Gautheron J , Morisseau C , Chung WK , Zammouri J , Auclair M , Baujat G , Capel E , Moulin C , Wang Y , Yang J , Hammock BD , Cerame B , Phan F , Feve B , Vigouroux C , Andreelli F , Jeru I
Ref : Elife , 10 : , 2021
PubMedID: 34342583
Gene_locus related to this paper: human-EPHX1

Title : Role of epoxide hydrolases and cytochrome P450s on metabolism of KZR-616, a first-in-class selective inhibitor of the immunoproteasome - Fang_2021_Drug.Metab.Dispos__
Author(s) : Fang Y , Johnson H , Anderl JL , Muchamuel T , McMinn D , Morisseau C , Hammock BD , Kirk C , Wang J
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , : , 2021
PubMedID: 34234005
Gene_locus related to this paper: human-EPHX1

Title : Development of potent inhibitors of the human microsomal epoxide hydrolase - Barnych_2020_Eur.J.Med.Chem_193_112206
Author(s) : Barnych B , Singh N , Negrel S , Zhang Y , Magis D , Roux C , Hua X , Ding Z , Morisseau C , Tantillo DJ , Siegel JB , Hammock BD
Ref : Eur Journal of Medicinal Chemistry , 193 :112206 , 2020
PubMedID: 32203787
Gene_locus related to this paper: human-EPHX1 , mouse-EPHX1

Title : Proteomic Analysis Reveals that EPHX1 Contributes to 5-Fluorouracil Resistance in a Human Hepatocellular Carcinoma Cell Line - Sun_2020_Proteomics.Clin.Appl_14_e1900080
Author(s) : Sun R , Dong C , Li R , Chu H , Liu J , Hao D , Zhang L , Zhao B , Wang L , Zhang Y
Ref : Proteomics Clin Appl , 14 :e1900080 , 2020
PubMedID: 32067389
Gene_locus related to this paper: human-EPHX1

Title : The Tyr113His T\/C rs1051740 and 'very slow' phenotype of the EPHX1 gene alters miR-26b-5p and miR-1207-5p expression in pregnancy - Naidoo_2017_Gene_633_71
Author(s) : Naidoo P , Naidoo RN , Ramkaran P , Asharam K , Chuturgoon AA
Ref : Gene , 633 :71 , 2017
PubMedID: 28789952
Gene_locus related to this paper: human-EPHX1

Title : Discovery of a Novel Microsomal Epoxide Hydrolase-Catalyzed Hydration of a Spiro Oxetane - Li_2016_Drug.Metab.Dispos_44_1341
Author(s) : Li XQ , Hayes MA , Gronberg G , Berggren K , Castagnoli N, Jr. , Weidolf L
Ref : Drug Metabolism & Disposition: The Biological Fate of Chemicals , 44 :1341 , 2016
PubMedID: 27256986
Gene_locus related to this paper: human-EPHX1

Title : Development of fluorescent substrates for microsomal epoxide hydrolase and application to inhibition studies - Morisseau_2011_Anal.Biochem_414_154
Author(s) : Morisseau C , Bernay M , Escaich A , Sanborn JR , Lango J , Hammock BD
Ref : Analytical Biochemistry , 414 :154 , 2011
PubMedID: 21371418
Gene_locus related to this paper: human-EPHX1 , ratno-hyep

Title : Development of metabolically stable inhibitors of Mammalian microsomal epoxide hydrolase - Morisseau_2008_Chem.Res.Toxicol_21_951
Author(s) : Morisseau C , Newman JW , Wheelock CE , Hill Iii T , Morin D , Buckpitt AR , Hammock BD
Ref : Chemical Research in Toxicology , 21 :951 , 2008
PubMedID: 18363382
Gene_locus related to this paper: human-EPHX1 , ratno-hyep

Title : Functional analysis of human microsomal epoxide hydrolase genetic variants - Hosagrahara_2004_Chem.Biol.Interact_150_149
Author(s) : Hosagrahara VP , Rettie AE , Hassett C , Omiecinski CJ
Ref : Chemico-Biological Interactions , 150 :149 , 2004
PubMedID: 15535985
Gene_locus related to this paper: human-EPHX1

Title : Inhibition of human m-epoxide hydrolase gene expression in a case of hypercholanemia - Zhu_2003_Biochim.Biophys.Acta_1638_208
Author(s) : Zhu QS , Xing W , Qian B , von Dippe P , Shneider BL , Fox VL , Levy D
Ref : Biochimica & Biophysica Acta , 1638 :208 , 2003
PubMedID: 12878321
Gene_locus related to this paper: human-EPHX1

Title : Five novel single nucleotide polymorphisms in the EPHX1 gene encoding microsomal epoxide hydrolase - Shiseki_2003_Drug.Metab.Pharmacokinet_18_150
Author(s) : Shiseki K , Itoda M , Saito Y , Nakajima Y , Maekawa K , Kimura H , Goto Y , Saitoh O , Katoh M , Ohnuma T , Kawai M , Sugai K , Ohtsuki T , Suzuki C , Minami N , Ozawa S , Sawada J
Ref : Drug Metab Pharmacokinet , 18 :150 , 2003
PubMedID: 15618730
Gene_locus related to this paper: human-EPHX1

Title : Two exonic single nucleotide polymorphisms in the microsomal epoxide hydrolase gene are jointly associated with preeclampsia - Laasanen_2002_Eur.J.Hum.Genet_10_569
Author(s) : Laasanen J , Romppanen EL , Hiltunen M , Helisalmi S , Mannermaa A , Punnonen K , Heinonen S
Ref : Eur J Hum Genet , 10 :569 , 2002
PubMedID: 12173035
Gene_locus related to this paper: human-EPHX1

Title : Identification of 6 new polymorphisms, g.11177G>A, g.14622C>T (R49C), g.17540T>C, g.17639T>C, g.30929T>C, g.31074G>A (R454Q), in the human microsomal epoxide hydrolase gene (EPHX1) in a French population -
Author(s) : Belmahdi F , Chevalier D , Lo-Guidice JM , Allorge D , Cauffiez C , Lafitte JJ , Broly F
Ref : Hum Mutat , 16 :450 , 2000
PubMedID: 11058921
Gene_locus related to this paper: human-EPHX1 , human-EPHX2

Title : Human microsomal epoxide hydrolase: genetic polymorphism and functional expression in vitro of amino acid variants - Hassett_1994_Hum.Mol.Genet_3_421
Author(s) : Hassett C , Aicher L , Sidhu JS , Omiecinski CJ
Ref : Hum Mol Genet , 3 :421 , 1994
PubMedID: 7516776
Gene_locus related to this paper: human-EPHX1

Title : The human microsomal epoxide hydrolase gene (EPHX1): complete nucleotide sequence and structural characterization - Hassett_1994_Genomics_23_433
Author(s) : Hassett C , Robinson KB , Beck NB , Omiecinski CJ
Ref : Genomics , 23 :433 , 1994
PubMedID: 7835893
Gene_locus related to this paper: human-EPHX1

Title : Human microsomal xenobiotic epoxide hydrolase. Complementary DNA sequence, complementary DNA-directed expression in COS-1 cells, and chromosomal localization - Skoda_1988_J.Biol.Chem_263_1549
Author(s) : Skoda RC , Demierre A , McBride OW , Gonzalez FJ , Meyer UA
Ref : Journal of Biological Chemistry , 263 :1549 , 1988
PubMedID: 2891713
Gene_locus related to this paper: human-EPHX1

Title : Nucleotide and deduced amino acid sequence of human liver microsomal epoxide hydrolase -
Author(s) : Jackson MR , Craft JA , Burchell B
Ref : Nucleic Acids Research , 15 :7188 , 1987
PubMedID: 3502697
Gene_locus related to this paper: human-EPHX1

Title : Partial nucleotide sequence of a cloned cDNA for human liver microsomal epoxide hydrolase. -
Author(s) : Craft JA , Jackson MR , Burchell B
Ref : Biochem Soc Trans , 15 :708 , 1987
PubMedID:
Gene_locus related to this paper: human-EPHX1

Title : Purification of human liver cytosolic epoxide hydrolase and comparison to the microsomal enzyme - Wang_1982_Biochemistry_21_5769
Author(s) : Wang P , Meijer J , Guengerich FP
Ref : Biochemistry , 21 :5769 , 1982
PubMedID: 6185139
Gene_locus related to this paper: human-EPHX1 , human-EPHX2