CYP2E1 (cytochrome P450 family 2 subfamily E member 1)

Gene

• Entrez ID: 1571
• Gene name: Cytochrome P450 family 2 subfamily E member 1
• Gene symbol: CYP2E1
• Synonyms: CPE1, CYP2E, P450-J, P450C2E
• Chromosome: 10
• Chromosome location: 10q26.3
• 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 local

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017817	hsa-miR-335-5p	Microarray	18185580
MIRT021813	hsa-miR-132-3p	Microarray	17612493
MIRT041622	hsa-miR-488-5p	CLASH	23622248
MIRT038008	hsa-miR-488-3p	CLASH	23622248

Transcription factors

Transcription factor	Regulation	Reference
NFATC1	Activation	20723539
NFKB1	Unknown	19928584
RELA	Unknown	19928584
STAT6	Activation	20723539

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0002933	Process	Lipid hydroxylation	IDA	10553002
GO:0004497	Function	Monooxygenase activity	IDA	10553002, 19651758
GO:0004497	Function	Monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006082	Process	Organic acid metabolic process	IBA	21873635
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IBA	21873635
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008202	Process	Steroid metabolic process	IMP	18356043
GO:0008392	Function	Arachidonic acid epoxygenase activity	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	IBA	21873635
GO:0009617	Process	Response to bacterium	IEA
GO:0010193	Process	Response to ozone	IEA
GO:0010243	Process	Response to organonitrogen compound	IEA
GO:0016098	Process	Monoterpenoid metabolic process	IDA	16401082
GO:0016491	Function	Oxidoreductase activity	IDA	16401082, 19219744
GO:0016709	Function	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	18818195
GO:0016712	Function	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	21873635
GO:0017144	Process	Drug metabolic process	IDA	19219744
GO:0017144	Process	Drug metabolic process	IMP	18356043
GO:0017144	Process	Drug metabolic process	TAS
GO:0018601	Function	4-nitrophenol 2-monooxygenase activity	IDA	9348445
GO:0018885	Process	Carbon tetrachloride metabolic process	TAS
GO:0018910	Process	Benzene metabolic process	TAS
GO:0018960	Process	4-nitrophenol metabolic process	IDA	9348445
GO:0019373	Process	Epoxygenase P450 pathway	IBA	21873635
GO:0019825	Function	Oxygen binding	TAS	3233219
GO:0019899	Function	Enzyme binding	IPI	15680923
GO:0020037	Function	Heme binding	IBA	21873635
GO:0020037	Function	Heme binding	IDA	18818195
GO:0030544	Function	Hsp70 protein binding	ISS
GO:0031227	Component	Intrinsic component of endoplasmic reticulum membrane	IEA
GO:0042197	Process	Halogenated hydrocarbon metabolic process	TAS
GO:0042738	Process	Exogenous drug catabolic process	IBA	21873635
GO:0042759	Process	Long-chain fatty acid biosynthetic process	TAS
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045471	Process	Response to ethanol	IEA
GO:0046483	Process	Heterocycle metabolic process	IDA	19651758
GO:0051879	Function	Hsp90 protein binding	ISS
GO:0070330	Function	Aromatase activity	IEA

Other IDs

• MIM: 124040
• HGNC: 2631
• e!Ensembl: ENSG00000130649

Protein

• UniProt ID: P05181
• Protein name: Cytochrome P450 2E1 (EC 1.14.14.1) (4-nitrophenol 2-hydroxylase) (EC 1.14.13.n7) (CYPIIE1) (Cytochrome P450-J)
• Protein function: 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
• PDB: 3E4E, 3E6I, 3GPH, 3KOH, 3LC4, 3T3Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	33 → 489	Cytochrome P450	Domain

• Sequence:

  MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNLFQLELKNIPKSFTRL
  AQRFGPVFTLYVGSQRMVVMHGYKAVKEALLDYKDEFSGRGDLPAFHAHRDRGIIFNNGP
  TWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRKTQGQPFDPTFLIGCAPCNVI
  ADILFRKHFDYNDEKFLRLMYLFNENFHLLSTPWLQLYNNFPSFLHYLPGSHRKVIKNVA
  EVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAERLYTMDGITVTVADLFFAG
  TETTSTTLRYGLLILMKYPEIEEKLHEEIDRVIGPSRIPAIKDRQEMPYMDAVVHEIQRF
  ITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYDNQEFPDPEKFKPEHFLNENGK
  FKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHFNLKPLVDPKDIDLSPIHIGFGC
  IPPRYKLCVIPRS

• Sequence length: 493

Pathways

KEGG:

Steroid hormone biosynthesis
Arachidonic acid metabolism
Linoleic acid metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Non-alcoholic fatty liver disease
Alcoholic liver disease
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - reactive oxygen species

Reactome:

Xenobiotics
CYP2E1 reactions
Biosynthesis of maresin-like SPMs

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	16142352
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	16142352
Diffuse lymphoma	Diffuse Mixed-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291	11406608
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	11774269
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	27903959
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193	16142352
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	1673675, 17093202
Lymphoma	Lymphoma, Mixed-Cell, Lymphoma, Undifferentiated, Lymphoma, Small Noncleaved-Cell, Lymphoma, Diffuse, Lymphoma, Non-Hodgkin, Familial	rs11540652, rs1592119138, rs1592123162, rs1599367044	11406608
Non-hodgkin lymphoma	Lymphoma, Non-Hodgkin	rs121908689, rs28936699, rs121909775, rs398122800, rs121913357, rs121913355, rs398122820	11406608
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840	23954404
Parkinson disease	Parkinson Disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	16510128
Premature ovarian failure	PREMATURE OVARIAN FAILURE 12	rs587776535, rs71647804, rs137853320, rs606231206, rs121918655, rs121918656, rs606231207, rs606231208, rs80359775, rs397507719, rs200503569, rs587777267, rs730880018, rs587777268, rs587777269, rs587777270, rs201840174, rs587778428, rs41293513, rs200928781, rs587777871, rs587777872, rs606231343, rs672601359, rs193303102, rs193303103, rs193303104, rs138761187, rs869320753, rs869320765, rs878854403, rs875989810, rs875989885, rs876657679, rs1057517779, rs764841861, rs1057519602, rs147021911, rs1060505055, rs376787666, rs1554721235, rs1553752779, rs1553752894, rs144567652, rs1216260561, rs900140738, rs1560311010, rs1060502376, rs1001164504, rs1031011371, rs1596591051, rs1218620893, rs201115244, rs377712900, rs1800917478
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	12771559
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	22606226
Spermatogenic failure	SPERMATOGENIC FAILURE 15	rs193929390, rs193929391, rs587776620, rs769825641, rs80034486, rs121918346, rs778145751, rs387906690, rs201095702, rs371195126, rs312262776, rs140210148, rs142371860, rs538539239, rs147579680, rs587777205, rs751879424, rs587777206, rs868256749, rs587777427, rs587777432, rs864309485, rs797045116, rs774225566, rs756459525, rs754130052, rs886041023, rs781693813, rs886041024, rs886041025, rs757326350, rs1131692234, rs1131692250, rs1131692251, rs779490893, rs373911488, rs768831533, rs1131692266, rs376788209, rs780798708, rs1555568575, rs1555472691, rs368728266, rs746049858, rs1554861288, rs1554862953, rs753300178, rs760609580, rs1554882484, rs147356105, rs1553756374, rs762760856, rs866096259, rs1262272674, rs1553756824, rs1554359685, rs1554359569, rs1554492164, rs1554491783, rs763654373, rs1553482689, rs116298211, rs766707325, rs144567652, rs768006618, rs1555365959, rs1555363275, rs577163578, rs765353898, rs777263062, rs140352254, rs1567621034, rs759646845, rs376903331, rs1559024613, rs1559034750, rs773975635, rs1559025141, rs1161498711, rs751680143, rs1567790522, rs777214459, rs772371753, rs759127010, rs764048407, rs1355278372, rs1559674534, rs780431020, rs750057655, rs1559708295, rs148431487, rs761592042, rs759727960, rs1031011371, rs1598595659, rs767723684, rs1598525781, rs1269179049, rs756973049, rs1574628422, rs1457312523, rs1589391313, rs1579486914, rs766352190, rs763399136, rs1489738488, rs1579951018, rs1579787268, rs1391102782, rs1375975527, rs1230916222, rs1580704451, rs1580383744, rs1580783651, rs1580529760, rs769554360, rs147597066, rs753831132, rs377712900, rs1677697539, rs2083311058

Unknown
Disease name	Disease term	dbSNP ID	References
Alcoholic fatty liver	Fatty Liver, Alcoholic		26428356
Alcoholic liver cirrhosis	Liver Cirrhosis, Alcoholic		20843640
Fatty liver	Fatty Liver, Steatohepatitis		18952117
Gout	Gout		22179738
Gouty arthritis	Arthritis, Gouty		22179738
Liver neoplasms	Liver neoplasms		17093202
Liver cancer	Malignant neoplasm of liver		17093202
Liver carcinoma	Liver carcinoma		15162526
Lung neoplasms	Lung Neoplasms		17093202, 1673675
High grade lymphoma	High Grade Lymphoma (neoplasm)		11406608
Intermediate grade lymphoma	Lymphoma, Intermediate-Grade		11406608
Low grade lymphoma	Low Grade Lymphoma (neoplasm)		11406608
Non-alcoholic fatty liver disease	Non-alcoholic Fatty Liver Disease, Nonalcoholic Steatohepatitis		26428356
Prostatic neoplasms	Prostatic Neoplasms		12771559
Reticulosarcoma	Reticulosarcoma		11406608