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

Gene ID: 1571, updated on 23-Nov-2023

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
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Genomic context

See CYP2E1 in Genome Data Viewer
Location:
10q26.3
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (133527363..133539123)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (134478949..134490654)
105.20220307 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 arachidonic acid epoxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables aromatase activity IEA
Inferred from Electronic Annotation
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)

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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 precursor

    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_2023_10

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)