Gene: CYP2E1

Basic information

Tag Content
Uniprot ID P05181; Q5VZD5; Q6NWT9; Q9UK47;
Entrez ID 1571
Genbank protein ID AAA52155.1; AAA35743.1; EAW61357.1; ABF47105.1; AAD13753.1; AAH67433.1; BAA08796.1; AAF13601.1;
Genbank nucleotide ID NM_000773.3
Ensembl protein ID ENSP00000252945; ENSP00000440689;
Ensembl nucleotide ID ENSG00000130649
Gene name Cytochrome P450 2E1
Gene symbol CYP2E1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 17506098
Functional description A cytochrome P450 monooxygenase involved in the metabolism of fatty acids (PubMed:10553002, PubMed:18577768). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:10553002, PubMed:18577768). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates fatty acids specifically at the omega-1 position displaying the highest catalytic activity for saturated fatty acids (PubMed:10553002, PubMed:18577768). May be involved in the oxidative metabolism of xenobiotics (Probable).
Sequence
MSALGVTVAL LVWAAFLLLV SMWRQVHSSW NLPPGPFPLP IIGNLFQLEL KNIPKSFTRL 60
AQRFGPVFTL YVGSQRMVVM HGYKAVKEAL LDYKDEFSGR GDLPAFHAHR DRGIIFNNGP 120
TWKDIRRFSL TTLRNYGMGK QGNESRIQRE AHFLLEALRK TQGQPFDPTF LIGCAPCNVI 180
ADILFRKHFD YNDEKFLRLM YLFNENFHLL STPWLQLYNN FPSFLHYLPG SHRKVIKNVA 240
EVKEYVSERV KEHHQSLDPN CPRDLTDCLL VEMEKEKHSA ERLYTMDGIT VTVADLFFAG 300
TETTSTTLRY GLLILMKYPE IEEKLHEEID RVIGPSRIPA IKDRQEMPYM DAVVHEIQRF 360
ITLVPSNLPH EATRDTIFRG YLIPKGTVVV PTLDSVLYDN QEFPDPEKFK PEHFLNENGK 420
FKYSDYFKPF STGKRVCAGE GLARMELFLL LCAILQHFNL KPLVDPKDID LSPIHIGFGC 480
IPPRYKLCVI PRS 493

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCYP2E1282213Q2TBV4Bos taurusPredictionMore>>
1:1 orthologCYP2E1415128Q9MZY0Canis lupus familiarisPredictionMore>>
1:1 orthologCYP2E1102182294A0A452DL40Capra hircusPredictionMore>>
1:1 orthologCYP2E11571P05181CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologCyp2e113106Q05421Mus musculusPredictionMore>>
1:1 orthologCYP2E1450857A0A2J8J1H0Pan troglodytesPredictionMore>>
1:1 orthologCYP2E1F1SCT4Sus scrofaPredictionMore>>
1:1 orthologCyp2e125086P05182Rattus norvegicusPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004497 monooxygenase activityIDA
GO:0004497 monooxygenase activityTAS
GO:0005506 iron ion bindingIEA
GO:0008392 arachidonic acid epoxygenase activityIBA
GO:0008395 steroid hydroxylase activityIBA
GO:0016491 oxidoreductase activityIDA
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 oxygenTAS
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 oxygenIBA
GO:0018601 4-nitrophenol 2-monooxygenase activityIDA
GO:0019825 oxygen bindingTAS
GO:0019899 enzyme bindingIPI
GO:0020037 heme bindingIDA
GO:0020037 heme bindingIBA
GO:0030544 Hsp70 protein bindingISS
GO:0051879 Hsp90 protein bindingISS
GO:0070330 aromatase activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0002933 lipid hydroxylationIDA
GO:0006082 organic acid metabolic processIBA
GO:0006641 triglyceride metabolic processIEA
GO:0006805 xenobiotic metabolic processIBA
GO:0006805 xenobiotic metabolic processTAS
GO:0008202 steroid metabolic processIMP
GO:0009617 response to bacteriumIEA
GO:0010193 response to ozoneIEA
GO:0010243 response to organonitrogen compoundIEA
GO:0016098 monoterpenoid metabolic processIDA
GO:0017144 drug metabolic processIMP
GO:0017144 drug metabolic processIDA
GO:0017144 drug metabolic processTAS
GO:0018885 carbon tetrachloride metabolic processTAS
GO:0018910 benzene metabolic processTAS
GO:0018960 4-nitrophenol metabolic processIDA
GO:0019373 epoxygenase P450 pathwayIBA
GO:0042197 halogenated hydrocarbon metabolic processTAS
GO:0042738 exogenous drug catabolic processIBA
GO:0042759 long-chain fatty acid biosynthetic processTAS
GO:0045471 response to ethanolIEA
GO:0046483 heterocycle metabolic processIDA
GO:0055114 oxidation-reduction processIDA
GO:0055114 oxidation-reduction processIBA

GO:Cellular Component

GO ID GO Term Evidence
GO:0000139 Golgi membraneIEA
GO:0005737 cytoplasmIBA
GO:0005743 mitochondrial inner membraneISS
GO:0005789 endoplasmic reticulum membraneTAS
GO:0031227 intrinsic component of endoplasmic reticulum membraneIEA
GO:0043231 intracellular membrane-bounded organelleIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1430728 MetabolismTAS
R-HSA-211859 Biological oxidationsTAS
R-HSA-211897 Cytochrome P450 - arranged by substrate typeTAS
R-HSA-211945 Phase I - Functionalization of compoundsTAS
R-HSA-211981 XenobioticsTAS
R-HSA-211999 CYP2E1 reactionsTAS
R-HSA-556833 Metabolism of lipidsTAS
R-HSA-9018677 Biosynthesis of DHA-derived SPMsTAS
R-HSA-9018678 Biosynthesis of specialized proresolving mediators (SPMs)TAS
R-HSA-9018682 Biosynthesis of maresinsTAS
R-HSA-9027307 Biosynthesis of maresin-like SPMsTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0903 Direct protein sequencing
KW-0256 Endoplasmic reticulum
KW-0276 Fatty acid metabolism
KW-0349 Heme
KW-0408 Iron
KW-0443 Lipid metabolism
KW-0472 Membrane
KW-0479 Metal-binding
KW-0492 Microsome
KW-0496 Mitochondrion
KW-0999 Mitochondrion inner membrane
KW-0503 Monooxygenase
KW-0521 NADP
KW-0560 Oxidoreductase
KW-0621 Polymorphism
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR001128 Cyt_P450
IPR017972 Cyt_P450_CS
IPR002401 Cyt_P450_E_grp-I
IPR008070 Cyt_P450_E_grp-I_CYP2E-like
IPR036396 Cyt_P450_sf

PROSITE

PROSITE ID PROSITE Term
PS00086 CYTOCHROME_P450

Pfam

Pfam ID Pfam Term
PF00067 p450

Protein-protein interaction

Protein-miRNA interaction