• Gene id: 2052

Gene Summary

• Gene Symbol: EPHX1   Gene   UCSC   Ensembl
• Aliases: EPHX, EPOX, HYL1, MEH
• Gene name: epoxide hydrolase 1
• Alternate names: epoxide hydrolase 1, epoxide hydratase, epoxide hydrolase 1 microsomal, epoxide hydrolase 1, microsomal (xenobiotic),
• Gene location: 1q42.12 (225810123: 225845562)     Exons: 11     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 615090

Protein Summary

• Protein general information: P07099  
  • Name: Epoxide hydrolase 1 (EC 3.3.2.9) (Epoxide hydratase) (Microsomal epoxide hydrolase) (mEH)
  • Length: 455  
  • Mass: 52949
  • Tissue specificity: Found in liver. {ECO
• Sequence:

  MWLEILLTSVLGFAIYWFISRDKEETLPLEDGWWGPGTRSAAREDDSIRPFKVETSDEEIHDLHQRIDKFRFTPP
  LEDSCFHYGFNSNYLKKVISYWRNEFDWKKQVEILNRYPHFKTKIEGLDIHFIHVKPPQLPAGHTPKPLLMVHGW
  PGSFYEFYKIIPLLTDPKNHGLSDEHVFEVICPSIPGYGFSEASSKKGFNSVATARIFYKLMLRLGFQEFYIQGG
  DWGSLICTNMAQLVPSHVKGLHLNMALVLSNFSTLTLLLGQRFGRFLGLTERDVELLYPVKEKVFYSLMRESGYM
  HIQCTKPDTVGSALNDSPVGLAAYILEKFSTWTNTEFRYLEDGGLERKFSLDDLLTNVMLYWTTGTIISSQRFYK
  ENLGQGWMTQKHERMKVYVPTGFSAFPFELLHTPEKWVRFKYPKLISYSYMVRGGHFAAFEEPELLAQDIRKFLS
  VLERQ

• Structural information:
  • Interpro: IPR029058  IPR000639  IPR010497  IPR016292  
  • STRING: ENSP00000480004
• Other Databases: GeneCards:  EPHX1  Malacards:  EPHX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097176	epoxide metabolic process	IDA	biological process
GO:0004301	epoxide hydrolase activity	IDA	molecular function
GO:0033961	cis-stilbene-oxide hydrolase activity	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0009636	response to toxic substance	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019439	aromatic compound catabolic process	IEA	biological process
GO:0004301	epoxide hydrolase activity	TAS	molecular function
GO:0033961	cis-stilbene-oxide hydrolase activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0033961	cis-stilbene-oxide hydrolase activity	TAS	molecular function
GO:0006725	cellular aromatic compound metabolic process	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0031090	organelle membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0033961	cis-stilbene-oxide hydrolase activity	IDA	molecular function
GO:0019369	arachidonic acid metabolic process	IDA	biological process
GO:0004301	epoxide hydrolase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05204	Chemical carcinogenesis
hsa00980	Metabolism of xenobiotics by cytochrome P450
hsa04976	Bile secretion

Diseases

Associated diseases	References
Familial hypercholanemia	KEGG:H01935
Familial hypercholanemia	KEGG:H01935
Non-Hodgkin lymphoma	PMID:11406608
Bone disease	PMID:19657367
Pre-eclampsia	PMID:11283205
Alzheimer's disease	PMID:16630050
urinary bladder cancer	PMID:19252927
aplastic anemia	PMID:26999617
aplastic anemia	PMID:21228718
Parkinson's disease	PMID:10720475
Respiratory system disease	PMID:14593914
Anemia	PMID:24533712
Asthma	PMID:17711870
Chronic obstructive pulmonary disease	PMID:18811882
lung non-small cell carcinoma	PMID:17273734
Leber hereditary optic neuropathy	PMID:15838728
acute myeloid leukemia	PMID:11849215
multiple myeloma	PMID:16949155
Pulmonary emphysema	PMID:12579334
acute lymphocytic leukemia	PMID:21983886
acute lymphocytic leukemia	PMID:22930568
acute lymphocytic leukemia	PMID:19593802
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray