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    CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1 [ Homo sapiens (human) ]

    Gene ID: 1571, updated on 18-May-2013
    Official Symbol
    CYP2E1provided by HGNC
    Official Full Name
    cytochrome P450, family 2, subfamily E, polypeptide 1provided by HGNC
    Primary source
    HGNC:2631
    See related
    Ensembl:ENSG00000130649; HPRD:11813; MIM:124040; Vega:OTTHUMG00000019322
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPE1; CYP2E; P450-J; P450C2E
    Summary
    This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is induced by ethanol, the diabetic state, and starvation. The enzyme metabolizes both endogenous substrates, such as ethanol, acetone, and acetal, as well as exogenous substrates including benzene, carbon tetrachloride, ethylene glycol, and nitrosamines which are premutagens found in cigarette smoke. Due to its many substrates, this enzyme may be involved in such varied processes as gluconeogenesis, hepatic cirrhosis, diabetes, and cancer. [provided by RefSeq, Jul 2008]
    Location :
    10q26.3
    Sequence :
    Chromosome: 10; NC_000010.10 (135340867..135352620)
    See CYP2E1 in Epigenomics, MapViewer

    Chromosome 10 - NC_000010.10Genomic Context describing neighboring genes Neighboring gene scavenger receptor protein family member Neighboring gene olfactory receptor, family 7, subfamily M, member 1 pseudogene Neighboring gene synaptonemal complex central element protein 1 Neighboring gene shadow of prion protein homolog (zebrafish) pseudogene 1 Neighboring gene olfactory receptor, family 6, subfamily L, member 1 pseudogene

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. CYP2E1 polymorphisms and colorectal cancer risk: a HuGE systematic review and meta-analysis. Jiang O, et al. Tumour Biol, 2013 Apr. PMID 23355335.
    2. The action of cytochrome b(5) on CYP2E1 and CYP2C19 activities requires anionic residues D58 and D65. Peng HM, et al. Biochemistry, 2013 Jan 8. PMID 23193974.
    3. Oxidation of methyl and ethyl nitrosamines by cytochrome P450 2E1 and 2B1. Chowdhury G, et al. Biochemistry, 2012 Dec 18. PMID 23186213.
    4. CYP2E1 RsaI/PstI polymorphism and gastric cancer susceptibility: meta-analyses based on 24 case-control studies. Zhuo W, et al. PLoS One, 2012. PMID 23139769.
    5. CYP2E1 RsaI/PstI polymorphism and risk of anti-tuberculosis drug-induced liver injury: a meta-analysis. Deng R, et al. Int J Tuberc Lung Dis, 2012 Dec. PMID 23131254.

    See all (512) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. CYP2E1 Rsa I/Pst I and 96-bp insertion polymorphisms may be associated with colorectal cancer risk.
      Title: CYP2E1 polymorphisms and colorectal cancer risk: a HuGE systematic review and meta-analysis.
    2. Meta-analysis: CYP2E1 RsaI/PstI polymorphism may affect susceptibility to antitubercular drug-induced liver injury, particularly among Chinese and Korean populations.
      Title: CYP2E1 RsaI/PstI polymorphism and risk of anti-tuberculosis drug-induced liver injury: a meta-analysis.
    3. CYP2E1 RsaI/PstI polymorphisms may modify the susceptibility to gastric cancer among individuals who have a smoking history.
      Title: CYP2E1 RsaI/PstI polymorphism and gastric cancer susceptibility: meta-analyses based on 24 case-control studies.
    4. CYP1A1 and CYP2E1 gene polymorphisms may increase risk of the oral submucous fibrosis among Eastern Indians.
      Title: CYP1AI and CYP2E1 gene polymorphisms may increase susceptibility to Oral Submucous Fibrosis among betel quid chewers of Eastern India.
    5. CYP2E1*5 and CYP2E1*6 may be possible protection factors for leprosy patients.
      Title: Polymorphisms in the CYP2E1 and GSTM1 genes as possible protection factors for leprosy patients.
    6. There was no statistically significant association between CYP2E1 RsaI c1/c1 genotype or DraI C/C genotype and ATDH.
      Title: CYP2E1, GSTM1 and GSTT1 genetic polymorphisms and susceptibility to antituberculosis drug-induced hepatotoxicity: a nested case-control study.
    7. Slow acetylators with the NAT2*6A/7B and NAT2*6A/6A genotypes combined with the C1/C1 CYP2E1 genotype may be involved in the pathogenesis of anti-tuberculosis drug-induced hepatotoxicity.
      Title: NAT2 and CYP2E1 polymorphisms associated with antituberculosis drug-induced hepatotoxicity in Chinese patients.
    8. The single nucleotide polymorphisms (SNPs) of the promoter region of CYP2E1 and corresponding haplotypes in the Chinese Han population, were characterized.
      Title: Systematic functional characterization of cytochrome P450 2E1 promoter variants in the Chinese Han population.
    9. concurrent over-expression of CYP2E1 and NQO1 mRNA in acute myeloid leukemia with inv(16)
      Title: Over-expression of CYP2E1 mRNA and protein: implications of xenobiotic induced damage in patients with de novo acute myeloid leukemia with inv(16)(p13.1q22); CBFβ-MYH11.
    10. Cytochrome b(5) residues D58 and D65 are essential for the stimulation of CYP2E1 and CYP2C19 activities and that the phospholipid composition significantly influences the b(5)-P450 interaction.
      Title: The action of cytochrome b(5) on CYP2E1 and CYP2C19 activities requires anionic residues D58 and D65.
    Submit: New GeneRIF Correction See all (232)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    P05181 P16435 POR    HPRD  PubMed  
    BioGRID:107944 BioGRID:117024 ABCA5    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:122342 AGXT2    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:106764 AMFR    BioGRID  PubMed Biochemical Activity 
    BioGRID:107944 BioGRID:107603 CLU    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:107908 CYB5A    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107944 BioGRID:119132 DYT10    BioGRID  PubMed Biochemical Activity 
    BioGRID:107944 BioGRID:108221 ECHS1    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:108484 FANCG    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:107944 BioGRID:108898 GATM    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:115603 LAMC3    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:110272 MAFG    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:114561 NMI    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:111443 POR    BioGRID  PubMed Reconstituted Complex 
    BioGRID:107944 BioGRID:111731 PTN    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:117068 RPL13A    BioGRID  PubMed Two-hybrid 
    BioGRID:107944 BioGRID:115563 STUB1    BioGRID  PubMed Biochemical Activity 
    BioGRID:107944 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 

    Markers

    Genotypes

    Potential readthrough

    Included gene: SYCE1

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    electron carrier activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    heme binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen TAS
    Traceable Author Statement
    more info
    		 PubMed 
    oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IEA
    Inferred from Electronic Annotation
    more info
    		  
    oxygen binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    drug metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    drug metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    heterocycle metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    monoterpenoid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    oxidation-reduction process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    response to drug IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to organic nitrogen IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to ozone IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    steroid metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    xenobiotic metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    intrinsic to endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    cytochrome P450 2E1
    Names
    cytochrome P450 2E1
    CYPIIE1
    cytochrome P450-J
    microsomal monooxygenase
    xenobiotic monooxygenase
    4-nitrophenol 2-hydroxylase
    flavoprotein-linked monooxygenase
    cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1
    NP_000764.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008383.1 RefSeqGene

      Range
      5001..16754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000773.3 → NP_000764.1  cytochrome P450 2E1 precursor

      Status: REVIEWED

      Source sequence(s)
      AL161645, BX951478, J02625
      Consensus CDS
      CCDS7686.1
      UniProtKB/Swiss-Prot
      P05181
      Related
      ENSP00000252945, ENST00000252945
      Conserved Domains (2) summary
      pfam00067
      Location:45 – 489
      Blast Score: 1262
      p450; Cytochrome P450
      cl12078
      Location:45 – 492
      Blast Score: 484
      CypX; Cytochrome P450 [Secondary metabolites biosynthesis, transport, and catabolism]

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000010.10 Reference GRCh37.p10 Primary Assembly

      Range
      135340867..135352620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000142.1 Alternate HuRef

      Range
      128882691..128894624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018921.1 Alternate CHM1_1.0

      Range
      135842068..135853766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01006221.1 (77507..87111) None
    genomic ABBA01006222.1 None
    genomic AL161645.14 (112003..123757) None
    genomic AMYH01003243.1 (100422..112120) None
    genomic CH471211.2 EAW61357.1
      EAW61358.1
    genomic D10014.1 BAA00902.1
    genomic D50111.1 BAA08796.1
    genomic DQ515958.1 ABF47105.1
    genomic J02843.1 AAA52155.1
    mRNA AF084225.1 AAD13753.1
    mRNA AF182276.1 AAF13601.1
    mRNA AJ853939.1 CAH69381.1
    mRNA AJ853940.1 CAH69382.1
    mRNA AJ877238.1 CAI47002.1
    mRNA AK290822.1 BAF83511.1
    mRNA BC067433.1 AAH67433.1
    mRNA BC067435.1 AAH67435.1
    mRNA BX951478.1 None
    mRNA DQ149222.1 AAZ77710.1
    mRNA J02625.1 AAA35743.1
    mRNA S77873.1 AAD14267.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P05181.1 GenPept UniProtKB/Swiss-Prot:P05181

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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      Supplemental Content

      Table of contents

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        3D structure of a gene
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        BioAssay, by Protein Target
      • BioProjects
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      • BioSystems
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      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
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        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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