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FLASH GENE
Symbol CYP2E1 contributors: mct/pgu - updated : 20-05-2011
HGNC name cytochrome P450, family 2, subfamily E, polypeptide 1
HGNC id 2631
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated HemoP
mono polymer monomer
HOMOLOGY
interspecies homolog to murine Cyp2e1
Homologene
FAMILY
  • cytochrome P450 subfamily IIE
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    text
  • mitochondrial CYP2E1 induces oxidative stress and augments alcohol-mediated cell/tissue injury
    • basic FUNCTION
  • involved in monooxygenation of both endogenous and exogenous substrates
  • metabolizes several precarcinogens, drugs, and solvents to reactive metabolites
  • involved in the metabolic activation of nitrosamines, oxygenation of alcohol, xenobiotics, carcinogens
  • generate reactive oxygen species (ROS), toxic molecules implicated in the pathogenesis of the disease, and CYP2E1 inhibition increases extracellular dopamine (DA) in the nervous system
  • capable of inducing significant ER protein damage and stress via its catalytic activation of pro-oxidants
  • involved in the biotransformation of xenobiotics and endogenous substrates
  • having ability to effectively bind and metabolize both small molecule substrates and fatty acids
  • major microsomal ethanol metabolizing enzyme interacting with genes, involved in detoxification of reactive oxygen species, such as glutathione-S-transferases M1 (GSTM1) and alcohol intake, gamma-aminobutyric acid receptor gamma2 (GABRG2)
  • play a central role in activating and detoxifying many carcinogens and endogenous compounds thought to be involved in the development of cancer
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport , detoxification
    PATHWAY
    metabolism drug
    signaling
    oxidative metabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
    NADPH, heme
    protein flavoprotein P450 oxidoreductase (POR)
    cell & other
    REGULATION
    induced by ethanol,diabetic,state,starvation
    isoniazid
    induced under hypertonic environments at a transcriptional level in primary hepatocyte
    ASSOCIATED DISORDERS
    corresponding disease(s)
    related resource Human Cytochrome P450 (CYP) Allele Nomenclature Committee
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    significantly decreased mRNA expression in patients with fibrotic and inflammatory lung diseases compared to healthy controls
    Susceptibility
  • to lung adenocarcinoma and to alcoholism
  • to acute lymphoblastic leukemia(ALL)
  • to oral clefts
  • to head and neck cancer
  • to alcoholic cirrhosis
    • Variant & Polymorphism other
  • variant 5 increases the risk of ALL
  • homozygote genotypes of PstI/RsaI or DraI polymorphism might be associated with an increased risk of head and neck cancer
  • combination of variant genotype of CYP2E1 5B with GABRG2, significantly increased the risk of alcoholic cirrhosis
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS