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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 1068 - 42 - 2005 16311924 variant 2 - - 918 - 42 - 2005 16311924 variant 3 - - 745 - 97 - 2005 16311924 NM_000773 9 - 1667 - 493 - 2005 16311924

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Nervous brain midbrain substantia nigra     Homo sapiens Reproductive female system ovary       Respiratory lung

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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