MGP Database

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MGP000972

UniProt Annotations

Entry Information
Gene Nameepoxide hydrolase 1, microsomal (xenobiotic)
Protein EntryHYEP_HUMAN
UniProt IDP07099
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityCis-stilbene oxide + H(2)O = (+)-(1R,2R)-1,2- diphenylethane-1,2-diol.
DiseaseFamilial hypercholanemia (FHCA) [MIM:607748]: A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=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. {ECO:0000269|PubMed:12173035}.
FunctionBiotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water.
SimilarityBelongs to the peptidase S33 family. {ECO:0000305}.
Subcellular LocationMicrosome membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
Tissue SpecificityFound in liver. {ECO:0000269|PubMed:12878321}.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ephx1/";
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