Human Gene CYP2E1 (ENST00000252945.8_5) from GENCODE V47lift37
  Description: cytochrome P450 family 2 subfamily E member 1 (from RefSeq NM_000773.4)
Gencode Transcript: ENST00000252945.8_5
Gencode Gene: ENSG00000130649.10_12
Transcript (Including UTRs)
   Position: hg19 chr10:135,340,867-135,352,627 Size: 11,761 Total Exon Count: 9 Strand: +
Coding Region
   Position: hg19 chr10:135,340,900-135,352,468 Size: 11,569 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:135,340,867-135,352,627)mRNA (may differ from genome)Protein (493 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CP2E1_HUMAN
DESCRIPTION: RecName: Full=Cytochrome P450 2E1; EC=1.14.13.-; AltName: Full=4-nitrophenol 2-hydroxylase; EC=1.14.13.n7; AltName: Full=CYPIIE1; AltName: Full=Cytochrome P450-J;
FUNCTION: Metabolizes several precarcinogens, drugs, and solvents to reactive metabolites. Inactivates a number of drugs and xenobiotics and also bioactivates many xenobiotic substrates to their hepatotoxic or carcinogenic forms.
CATALYTIC ACTIVITY: 4-nitrophenol + NADPH + O(2) = 4-nitrocatechol + NADP(+) + H(2)O.
COFACTOR: Heme group.
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.
INDUCTION: By ethanol and isoniazid.
SIMILARITY: Belongs to the cytochrome P450 family.
WEB RESOURCE: Name=Cytochrome P450 Allele Nomenclature Committee; Note=CYP2E1 alleles; URL="http://www.cypalleles.ki.se/cyp2e1.htm";
WEB RESOURCE: Name=Wikipedia; Note=CYP2E1 entry; URL="http://en.wikipedia.org/wiki/CYP2E1";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/cyp2e1/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CYP2E1
Diseases sorted by gene-association score: alcohol abuse (36), alcoholic liver cirrhosis (23), fatty liver disease (21), drug-induced hepatitis (17), alcoholic pancreatitis (15), isoniazid toxicity (12), alcoholic hepatitis (12), schizophrenia 4 (12), liver disease (11), liver cirrhosis (9), alcohol dependence (9), methanol poisoning (9), methemoglobinemia (9), nonalcoholic steatohepatitis (7), liver angiosarcoma (7), nasopharyngeal carcinoma (7), alcoholic cardiomyopathy (5), tuberculosis (5), conjunctival degeneration (5), squamous cell papilloma (4), pinguecula (4), lung cancer (3), hepatocellular carcinoma (2), oral cavity cancer (2), prostate cancer susceptibility (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1658.29 RPKM in Liver
Total median expression: 1779.65 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -8.8033-0.267 Picture PostScript Text
3' UTR -27.60159-0.174 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001128 - Cyt_P450
IPR017972 - Cyt_P450_CS
IPR002401 - Cyt_P450_E_grp-I
IPR008070 - Cyt_P450_E_grp-I_CYP2E-like

Pfam Domains:
PF00067 - Cytochrome P450

SCOP Domains:
48264 - Cytochrome P450

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3E4E - X-ray MuPIT 3E6I - X-ray MuPIT 3GPH - X-ray MuPIT 3KOH - X-ray MuPIT 3LC4 - X-ray MuPIT 3T3Z - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P05181
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGD  WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004497 monooxygenase activity
GO:0005506 iron ion binding
GO:0008392 arachidonic acid epoxygenase activity
GO:0008395 steroid hydroxylase activity
GO:0016491 oxidoreductase activity
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
GO:0016709 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
GO:0016712 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
GO:0019825 oxygen binding
GO:0019899 enzyme binding
GO:0020037 heme binding
GO:0046872 metal ion binding

Biological Process:
GO:0006641 triglyceride metabolic process
GO:0006805 xenobiotic metabolic process
GO:0008202 steroid metabolic process
GO:0010193 response to ozone
GO:0010243 response to organonitrogen compound
GO:0016098 monoterpenoid metabolic process
GO:0017144 drug metabolic process
GO:0018885 carbon tetrachloride metabolic process
GO:0018910 benzene metabolic process
GO:0019373 epoxygenase P450 pathway
GO:0042197 halogenated hydrocarbon metabolic process
GO:0042493 response to drug
GO:0042759 long-chain fatty acid biosynthetic process
GO:0045471 response to ethanol
GO:0046483 heterocycle metabolic process
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005739 mitochondrion
GO:0005783 endoplasmic reticulum
GO:0005789 endoplasmic reticulum membrane
GO:0016020 membrane
GO:0031090 organelle membrane
GO:0031227 intrinsic component of endoplasmic reticulum membrane
GO:0043231 intracellular membrane-bounded organelle


-  Descriptions from all associated GenBank mRNAs
  AK290822 - Homo sapiens cDNA FLJ75676 complete cds, highly similar to Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1(CYP2E1), mRNA.
J02625 - Human cytochrome P-450j mRNA, complete cds.
AF182276 - Homo sapiens cytochrome P450-2E1 (CYP2E1) mRNA, complete cds.
JD461066 - Sequence 442090 from Patent EP1572962.
DQ149222 - Homo sapiens cytochrome P450 2E1 mRNA, partial cds.
BC067435 - Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1, mRNA (cDNA clone MGC:79262 IMAGE:7002164), complete cds.
CU688292 - Synthetic construct Homo sapiens gateway clone IMAGE:100023206 5' read CYP2E1 mRNA.
KJ896681 - Synthetic construct Homo sapiens clone ccsbBroadEn_06075 CYP2E1 gene, encodes complete protein.
KR711441 - Synthetic construct Homo sapiens clone CCSBHm_00023557 CYP2E1 (CYP2E1) mRNA, encodes complete protein.
BC067433 - Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1, mRNA (cDNA clone MGC:79260 IMAGE:7002160), complete cds.
E10621 - Human cDNA encoding cytochrome P4502E1.
E10854 - cDNA encoding human cytochrome P450.
AF084225 - Homo sapiens cytochrome P450 2E1 (CYP2E1) mRNA, partial cds.
AJ853939 - Homo sapiens partial mRNA for cytochrome P450 2E1 (CYP2E1 gene), isoform 1.
AJ853940 - Homo sapiens partial mRNA for cytochrome P450 2E1 (CYP2E1 gene), isoform 2.
AJ877238 - Homo sapiens partial mRNA for putative cytochrome P450 2E1 (CYP2E1 gene), isoform 3.
AB209700 - Homo sapiens mRNA for cytochrome P450, family 2, subfamily E, polypeptide 1 variant protein.
JD021500 - Sequence 2524 from Patent EP1572962.
JD028214 - Sequence 9238 from Patent EP1572962.
S77873 - CYP2E1=cytochrome P450A {3' region} [human, liver, mRNA Partial, 346 nt].
JD020750 - Sequence 1774 from Patent EP1572962.
JD028598 - Sequence 9622 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-5451 - acetone degradation I (to methylglyoxal)
PWY-5453 - methylglyoxal degradation III
PWY-7466 - acetone degradation III (to propane-1,2-diol)
PWY-7926 - carbon disulfide oxidation III (metazoa)
PWY66-161 - ethanol degradation III

BioCarta from NCI Cancer Genome Anatomy Project
h_AcetaminophenPathway - Mechanism of Acetaminophen Activity and Toxicity
h_nuclearRsPathway - Nuclear Receptors in Lipid Metabolism and Toxicity

Reactome (by CSHL, EBI, and GO)

Protein P05181 (Reactome details) participates in the following event(s):

R-HSA-9027302 CYP2E1 oxidises 14(S)-HDHA to 14(S),21(R)-diHDHA and 14(S),21(S)-diHDHA
R-HSA-9027321 CYP2E1 oxidises 14(R)-HDHA to 14(R),21(R)-diHDHA and 14(R),21(S)-diHDHA
R-HSA-76354 Vinyl chloride is oxidized to 2-Chloroethylene oxide
R-HSA-76397 Acetaminophen oxidised to N-acetylbenzoquinoneimine (NAPQI)
R-HSA-76416 Benzene is hydroxylated to phenol
R-HSA-76434 Dehalogenation of carbon tetrachloride to form a free radical
R-HSA-76475 Dehalogenation of the poly-halogenated hydrocarbon Halothane to form the acylhalide Trifluoroacetlychloride and hydrogen bromide
R-HSA-143468 MEOS oxidizes ethanol to acetaldehyde
R-HSA-9027043 CYPs hydroxylate DHA to 14(R)-HDHA
R-HSA-211910 CYP2C8 inactivates paclitaxel by 6alpha-hydroxylation
R-HSA-76456 O-atom dealkylation of dextromethorphan
R-HSA-211966 CYP2D6 4-hydroxylates debrisoquine
R-HSA-76453 Coumarin is 7-hydroxylated by CYP2A6
R-HSA-211988 CYP2C9 inactivates tolbutamide by 4methyl-hydroxylation
R-HSA-211991 Cyclophosphamide is 4-hydroxylated by CYP2B6
R-HSA-212005 CYP2F1 dehydrogenates 3-methylindole
R-HSA-211929 CYP2C19 5-hydroxylates omeprazole
R-HSA-211881 Coumarin is 7-hydroxylated by CYP2A13
R-HSA-9027307 Biosynthesis of maresin-like SPMs
R-HSA-211999 CYP2E1 reactions
R-HSA-211981 Xenobiotics
R-HSA-9018682 Biosynthesis of maresins
R-HSA-211897 Cytochrome P450 - arranged by substrate type
R-HSA-9018677 Biosynthesis of DHA-derived SPMs
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-9018678 Biosynthesis of specialized proresolving mediators (SPMs)
R-HSA-211859 Biological oxidations
R-HSA-8978868 Fatty acid metabolism
R-HSA-1430728 Metabolism
R-HSA-556833 Metabolism of lipids

-  Other Names for This Gene
  Alternate Gene Symbols: CP2E1_HUMAN, CYP2E, CYP2E1 , ENST00000252945.1, ENST00000252945.2, ENST00000252945.3, ENST00000252945.4, ENST00000252945.5, ENST00000252945.6, ENST00000252945.7, NM_000773, P05181, Q5VZD5, Q6NWT9, Q9UK47, uc317fjf.1, uc317fjf.2
UCSC ID: ENST00000252945.8_5
RefSeq Accession: NM_000773.4
Protein: P05181 (aka CP2E1_HUMAN or CPE1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.