Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2052
Gene name	Epoxide hydrolase 1
Gene symbol	EPHX1
Synonyms (NCBI Gene)	EPHXEPOXHYL1MEH
Chromosome	1
Chromosome location	1q42.12
Summary	Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epoxide hydrolase functions in both the activation and det

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1051740	T>C	Benign, drug-response, risk-factor	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs2234922	A>G,T	Benign, drug-response	Intron variant, non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016561	hsa-miR-193b-3p	Proteomics	21512034
MIRT030149	hsa-miR-26b-5p	Microarray	19088304
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT966809	hsa-miR-4453	CLIP-seq
MIRT966810	hsa-miR-4538	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT966814	hsa-miR-3184	CLIP-seq
MIRT966815	hsa-miR-423-5p	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT966816	hsa-miR-4417	CLIP-seq
MIRT966817	hsa-miR-4437	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966818	hsa-miR-4674	CLIP-seq
MIRT966819	hsa-miR-4710	CLIP-seq
MIRT966820	hsa-miR-4792	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT1986357	hsa-miR-1207-5p	CLIP-seq
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT1986358	hsa-miR-184	CLIP-seq
MIRT1986359	hsa-miR-1908	CLIP-seq
MIRT1986360	hsa-miR-1909	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT1986361	hsa-miR-3151	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT1986362	hsa-miR-3191	CLIP-seq
MIRT1986363	hsa-miR-338-3p	CLIP-seq
MIRT1986364	hsa-miR-3612	CLIP-seq
MIRT1986365	hsa-miR-3689d	CLIP-seq
MIRT1986366	hsa-miR-3937	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT1986367	hsa-miR-4265	CLIP-seq
MIRT1986368	hsa-miR-4296	CLIP-seq
MIRT1986369	hsa-miR-4322	CLIP-seq
MIRT966816	hsa-miR-4417	CLIP-seq
MIRT966817	hsa-miR-4437	CLIP-seq
MIRT1986370	hsa-miR-4447	CLIP-seq
MIRT966809	hsa-miR-4453	CLIP-seq
MIRT1986371	hsa-miR-4470	CLIP-seq
MIRT1986372	hsa-miR-4472	CLIP-seq
MIRT966810	hsa-miR-4538	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966818	hsa-miR-4674	CLIP-seq
MIRT1986373	hsa-miR-4723-5p	CLIP-seq
MIRT1986374	hsa-miR-4736	CLIP-seq
MIRT1986375	hsa-miR-4763-3p	CLIP-seq
MIRT1986376	hsa-miR-491-5p	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT1986377	hsa-miR-650	CLIP-seq
MIRT1986378	hsa-miR-663	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT966804	hsa-miR-1275	CLIP-seq
MIRT966805	hsa-miR-2110	CLIP-seq
MIRT966806	hsa-miR-3150a-3p	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq
MIRT966808	hsa-miR-4259	CLIP-seq
MIRT966809	hsa-miR-4453	CLIP-seq
MIRT966810	hsa-miR-4538	CLIP-seq
MIRT966811	hsa-miR-4665-5p	CLIP-seq
MIRT966812	hsa-miR-571	CLIP-seq
MIRT966813	hsa-miR-939	CLIP-seq
MIRT966807	hsa-miR-3175	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004301	Function	Epoxide hydrolase activity	IBA
GO:0004301	Function	Epoxide hydrolase activity	IDA	22798687, 24958911
GO:0004301	Function	Epoxide hydrolase activity	TAS	7516776
GO:0005515	Function	Protein binding	IPI	32814053, 35156780, 36012204
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0008142	Function	Oxysterol binding	IEA
GO:0008142	Function	Oxysterol binding	ISS
GO:0009636	Process	Response to toxic substance	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016803	Function	Ether hydrolase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IDA	24958911
GO:0033961	Function	Cis-stilbene-oxide hydrolase activity	IDA	24958911
GO:0033961	Function	Cis-stilbene-oxide hydrolase activity	IEA
GO:0033961	Function	Cis-stilbene-oxide hydrolase activity	TAS
GO:0097176	Process	Epoxide metabolic process	IBA
GO:0097176	Process	Epoxide metabolic process	IDA	22798687
GO:0120253	Process	Hydrocarbon catabolic process	IEA

MIM	HGNC	e!Ensembl
132810	3401	ENSG00000143819

P07099

Protein name

Epoxide hydrolase 1 (EC 3.3.2.9) (Epoxide hydratase) (Microsomal epoxide hydrolase) (mEH)

Protein function

Biotransformation enzyme that catalyzes the hydrolysis of arene and aliphatic epoxides to less reactive and more water soluble dihydrodiols by the trans addition of water (By similarity). Plays a role in the metabolism of endogenous lipids such

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00561	Abhydrolase_1	142 → 405	alpha/beta hydrolase fold	Domain

Tissue specificity

TISSUE SPECIFICITY: Found in liver. {ECO:0000269|PubMed:12878321}.

Sequence

MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEI
HDLHQRIDKFRFTPPLEDSCFHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKI
EGLDIHFIHVKPPQLPAGHTPKPLLMVHGWPGSFYEFYKIIPLLTDPKNHGLSDEHVFEV
ICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGGDWGSLICTNMAQLVP
SHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVML
YWTTGTIISSQRFYKENLGQGWMTQKHERMKVYVPTGFSAFPFELLHTPEKWVRFKYPKL
ISYSYMVRGGHFAAFEEPELLAQDIRKFLSVLERQ

Sequence length

455

Interactions

View interactions

	KEGG		Reactome
	Metabolism of xenobiotics by cytochrome P450 Bile secretion Chemical carcinogenesis - DNA adducts Chemical carcinogenesis - receptor activation Chemical carcinogenesis - reactive oxygen species		Phase I - Functionalization of compounds

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs80119745	RCV005911589
Cystic fibrosis	Benign	rs1051740	RCV000991132
Decreased total lymphocyte count	Benign	rs761149789	RCV002227883
Decreased total neutrophil count	Benign	rs761149789	RCV002227883
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs112721617	RCV004560253
EPHX1-related disorder	Benign; Likely benign	rs34143170, rs2234698, rs35967527, rs56300109	RCV003975820 RCV003917007 RCV003967320 RCV003951830
EPOXIDE HYDROLASE 1 POLYMORPHISM	Benign	rs1051740, rs2234922	RCV000018075 RCV000018079
Hypercholanemia, familial 1	Uncertain significance	rs35073925	RCV000680161
Uterine carcinosarcoma	Benign	rs80119745	RCV005911590
Uterine corpus endometrial carcinoma	Benign	rs80119745	RCV005911591

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Kidney Injury	Associate	40526606
Adenocarcinoma	Associate	12915882
Adenocarcinoma of Lung	Associate	37965333
Adenoma	Associate	18093316
Airway Obstruction	Associate	31348278
Alzheimer Disease	Associate	38104851
Asthma	Associate	17711870, 18439551, 22610343
Asthma Exercise Induced	Associate	22610343
Bone Diseases	Associate	19657367
Brain Neoplasms	Associate	24260161
Breast Neoplasms	Associate	17416769, 18423013, 22564471
Carcinogenesis	Associate	17695473, 22524818, 26295053
Carcinoma Hepatocellular	Associate	7892276
Carcinoma Squamous Cell	Associate	10732758
Chromosome Aberrations	Associate	11849215
Cognition Disorders	Associate	21734345
Colorectal Neoplasms	Associate	10408710, 17695473, 18093316, 20886582, 25058500, 28018104
Crohn Disease	Associate	12631667
Death	Associate	37965333
Emphysema	Associate	10853854, 17363767, 17686149, 21734345
Epilepsy	Associate	26555147, 31164100
Esophageal Neoplasms	Associate	12854128, 19360286
Esophagitis	Associate	12854128
Fibrosis	Associate	34428046
Follicular Cyst	Associate	23651475
Heart Defects Congenital	Associate	31348278
Hepatitis C	Associate	17296285
Hepatitis C Chronic	Associate	17296285
Hypercholanemia Familial	Associate	12878321, 25992604
Hypospadias	Associate	32728162
Hypoxia	Associate	19017876, 30867055
Insulin Resistance	Associate	34342583
Intrahepatic Cholestasis of Pregnancy	Associate	34638773
Leukemia Myeloid Acute	Associate	39300580
Lipodystrophy Familial Partial	Associate	34342583
Lung Diseases	Associate	21734345
Lung Neoplasms	Associate	10601573, 12915882, 15901990, 18298806, 37965333
Lymphoma	Associate	23651475, 33883344
Lymphoma B Cell	Associate	23651475, 33883344
Lymphoma Large B Cell Diffuse	Associate	21228414, 23651475
Macular Degeneration	Associate	15774926
Medulloblastoma	Associate	22994552
Multiple Myeloma	Associate	19657367
Multiple Organ Failure	Associate	34342583
Neoplasms	Associate	10408710, 12747973, 17548691, 22253860, 22524818, 25058500, 34428046
Neoplasms Multiple Primary	Associate	22253860
Non alcoholic Fatty Liver Disease	Associate	34428046
Ovarian Neoplasms	Stimulate	21480392
Ovarian Neoplasms	Associate	21480392
Pancreatic Neoplasms	Associate	22301281
Polycystic Ovary Syndrome	Associate	12798882, 24505354
Polyposis Syndrome Hereditary Mixed 1	Associate	18093316
Pre Eclampsia	Associate	11283205
Precancerous Conditions	Associate	12854128, 17296285
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	23433810
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	11849215
Prostatic Neoplasms	Associate	14719475
Pulmonary Disease Chronic Obstructive	Associate	10601573, 10639528, 15218992, 15702235, 15817713, 16456143, 17363767, 18461673, 19017876, 19111454, 20525719, 21044285, 21309732, 21734345, 22118311 View all (5 more)
Pulmonary Disease Chronic Obstructive Severe Early Onset	Associate	19111454
Respiratory Tract Diseases	Associate	17711870
Seizures	Associate	31164100
Skin Neoplasms	Associate	26295053
Smoke Inhalation Injury	Associate	18298806, 20886582
Stevens Johnson Syndrome	Associate	24861996, 34350628
Tobacco Use Disorder	Associate	34707353
Urinary Bladder Neoplasms	Associate	19252927, 22524818

EPHX1 (epoxide hydrolase 1)