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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
Location 10q24.3-qter      Physical location : 135.340.866 - 135.352.620
Synonym name
  • xenobiotic monooxygenase
  • flavoprotein-linked monooxygenase
  • Synonym symbol(s) P450IIE1, CYP2E, CPE1, P450-J, P450C2E, P450 2E1
    EC.number 1.14.14.1
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 11.00 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    motif repetitive sequence   triplet
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC387726 10 hypothetical gene supported by BC027847; BC047942 CALCYON 10q26.3 calcyon protein UPA 10q26.3 uterine-specific proline-rich acidic protein FLJ26016 10q26.3 FLJ26016 protein ECHS1 10q26.2-q26.3 enoyl Coenzyme A hydratase, short chain, 1, mitochondrial PAOX 10q26.3 polyamine oxidase (exo-N4-amino) LOC92170 OR6L1P 10q26.3 olfactory receptor, family 6, subfamily L, member 1 pseudogene CYP2E1 10q24.3-qter cytochrome P450, family 2, subfamily E, polypeptide 1 LOC93426 10q26.3 hypothetical telomeric gene LOC390012 10 similar to olfactory receptor MOR103-5 LOC390013 10 similar to fetal hypothetical protein LOC390014 10 similar to double homeobox protein LOC283039 10q26.3 similar to double homeobox protein LOC390015 10 similar to double homeobox protein LOC390016 10 similar to double homeobox protein
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 1068 - 42 - 2005 16311924
    - - 918 - 42 - 2005 16311924
    - - 745 - 97 - 2005 16311924
    9 - 1667 - 493 - 2005 16311924
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Nervousbrainmidbrainsubstantia nigra   Homo sapiens
    Reproductivefemale systemovary   
    Respiratorylung    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestivehepatocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    cell cycle     cell cycle
    Text liver
    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