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

    Gene ID: 1571, updated on 10-Dec-2024

    Summary

    Official Symbol
    CYP2E1provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily E member 1provided by HGNC
    Primary source
    HGNC:HGNC:2631
    See related
    Ensembl:ENSG00000130649 MIM:124040; AllianceGenome:HGNC:2631
    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]
    Expression
    Restricted expression toward liver (RPKM 2134.3) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP2E1 in Genome Data Viewer
    Location:
    10q26.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133527363..133539123)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134478949..134490654)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (135340867..135352627)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 7 subfamily M member 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4254 Neighboring gene uncharacterized LOC105378575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2983 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2984 Neighboring gene CYP2E1 5' regulatory region Neighboring gene uncharacterized LOC124902569 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:135344892-135346091 Neighboring gene synaptonemal complex central element protein 1 Neighboring gene shadow of prion protein pseudogene 1 Neighboring gene olfactory receptor family 6 subfamily L member 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Knockdown of NOX2 and NOX4 by siRNA abrogates HIV-1 gp120-induced reactive oxygen species (ROS), suggesting that NOX2 and NOX4 are involved in ROS production through CYP2E1 in astrocytes PubMed
    env HIV-1 gp120 upregulates the expression of cytochrome p450 family proteins CYP2E1, CYP2D6, and CYP2B6 in astrocytes PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: SYCE1

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 4-nitrophenol 2-monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables Hsp70 protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables Hsp90 protein binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables arachidonate epoxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables heme binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables heme binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables long-chain fatty acid omega-1 hydroxylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables monooxygenase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    enables oxidoreductase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 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 
    enables 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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables oxygen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    cytochrome P450 2E1
    Names
    4-nitrophenol 2-hydroxylase
    CYPIIE1
    cytochrome P450, family 2, subfamily E, polypeptide 1
    cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1
    cytochrome P450-J
    flavoprotein-linked monooxygenase
    microsomal monooxygenase
    xenobiotic monooxygenase
    NP_000764.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..16761
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000773.4NP_000764.1  cytochrome P450 2E1

      See identical proteins and their annotated locations for NP_000764.1

      Status: REVIEWED

      Source sequence(s)
      AL161645, BX951478, J02625
      Consensus CDS
      CCDS7686.1
      UniProtKB/Swiss-Prot
      P05181, Q5VZD5, Q6NWT9, Q9UK47
      UniProtKB/TrEMBL
      A8K457, Q3YA63
      Related
      ENSP00000252945.3, ENST00000252945.8
      Conserved Domains (1) summary
      pfam00067
      Location:33489
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      133527363..133539123
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      134478949..134490654
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)