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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
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
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