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Literature summary for 3.3.2.9 extracted from

  • Peng, H.; Zhu, Q.S.; Zhong, S.; Levy, D.
    Transcription of the human microsomal epoxide hydrolase gene (EPHX1) is regulated by PARP-1 and histone H1.2. association with sodium-dependent Bile acid transport (2015), PLoS ONE, 10, e0125318 .
    View publication on PubMedView publication on EuropePMC
Search for more literature for 3.3.2.9

Cloned(Commentary)

Cloned (Comment) Organism
gene EPHX1, sequencing of the EPHX1 5' region (-784/-1), 9 exons, intron 1, exon intron boundaries and the 3' untranslated region, analysis of EPHX1 transcriptional activity mediated by the proximal promoter region in HepG2 cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
additional information genotype analysis of the EPHX1 intron 1 polymorphism in the Lancaster County Old Order Amish population, identification of heterozygous mutations in human EPHX1 that result in a 95% decrease in mEH expression levels. EPHX1 transcription is significantly inhibited by two heterozygous mutations observed in the Old Order Amish population that present numerous hypercholanemic subjects in the absence of liver damage suggesting a defect in bile acid transport into the hepatocyte. The identity of the regulatory proteins binding to these sites, established using biotinylated oligonucleotides in conjunction with mass spectrometry is poly(ADP-ribose)polymerase-1 (PARP-1) (bound to the EPHX1 proximal promoter) and a linker histone complex, H1.2/Aly (bound to a regulatory intron 1 site). High frequency of the H1.2 site polymorphism in the Amish population results in a potential genetic predisposition to hypercholanemia Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
endoplasmic reticulum membrane type I enzyme form, microsomal epoxide hydrolase (mEH) is expressed on the hepatocyte endoplasmic reticulum membrane in two distinct topological orientations Homo sapiens 5789
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microsome
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 Homo sapiens
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plasma membrane type II enzyme form Homo sapiens 5886
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Organism

Organism UniProt Comment Textmining
Homo sapiens P07099 Amish population
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Source Tissue

Source Tissue Comment Organism Textmining
Hep-G2 cell
-
 Homo sapiens
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hepatocyte
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 Homo sapiens
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liver
-
 Homo sapiens
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Subunits

Subunits Comment Organism
? x * 48000 Homo sapiens

Synonyms

Synonyms Comment Organism
EPHX1
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 Homo sapiens
mEH
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 Homo sapiens
Microsomal epoxide hydrolase
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 Homo sapiens

General Information

General Information Comment Organism
malfunction 95% decrease in microsomal epoxide hydrolase expression levels is associated with a decrease in bile acid transport and severe hypercholanemia. EPHX1 transcription is significantly inhibited by two heterozygous mutations observed in the Old Order Amish population that present numerous hypercholanemic subjects in the absence of liver damage suggesting a defect in bile acid transport into the hepatocyte. High frequency of the H1.2 site polymorphism in the Amish population results in a potential genetic predisposition to hypercholanemia Homo sapiens
physiological function microsomal epoxide hydrolase (mEH) is a bifunctional protein that plays a central role in the metabolism of numerous xenobiotics as well as mediating the sodium-dependent transport of bile acids into hepatocytes. These compounds are involved in cholesterol homeostasis, lipid digestion, excretion of xenobiotics and the regulation of several nuclear receptors and signaling transduction pathways. The type I form of microsomal epoxide hydrolase (mEH) is expressed on the hepatocyte endoplasmic reticulum membrane plays a central role in the metabolism of numerous xenobiotics. The type II form is targeted to the plasma membrane where it can mediate the sodium-dependent transport of bile acids in parallel with the sodium-taurocholate cotransporting protein (Ntcp) Homo sapiens