EPHX1
Epoxide hydrolase 1
Also known as: EPHX, HYEP_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P07099
- Gene
- EPHX1
- Ensembl
- ENSG00000143819
- Chromosome
- 1
- Canonical length
- 455 aa
- Protein class
- Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
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 detoxification of epoxides. Mutations in this gene cause preeclampsia, epoxide hydrolase deficiency or increased epoxide hydrolase activity. Alternatively spliced transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Dec 2008]
Canonical amino-acid sequenceUniProt
455 residues, UniProt reviewed canonical sequence.
>P07099|EPHX1
1 MWLEILLTSV LGFAIYWFIS RDKEETLPLE DGWWGPGTRS AAREDDSIRP FKVETSDEEI
61 HDLHQRIDKF RFTPPLEDSC FHYGFNSNYL KKVISYWRNE FDWKKQVEIL NRYPHFKTKI
121 EGLDIHFIHV KPPQLPAGHT PKPLLMVHGW PGSFYEFYKI IPLLTDPKNH GLSDEHVFEV
181 ICPSIPGYGF SEASSKKGFN SVATARIFYK LMLRLGFQEF YIQGGDWGSL ICTNMAQLVP
241 SHVKGLHLNM ALVLSNFSTL TLLLGQRFGR FLGLTERDVE LLYPVKEKVF YSLMRESGYM
301 HIQCTKPDTV GSALNDSPVG LAAYILEKFS TWTNTEFRYL EDGGLERKFS LDDLLTNVML
361 YWTTGTIISS QRFYKENLGQ GWMTQKHERM KVYVPTGFSA FPFELLHTPE KWVRFKYPKL
421 ISYSYMVRGG HFAAFEEPEL LAQDIRKFLS VLERQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against EPHX1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.23
- Highest tissue expression
- 1,594 nTPM
Expression across tissuesHPA
Tissue
- liver: 1,594 nTPM
- adrenal gland: 1,147 nTPM
- choroid plexus: 557 nTPM
- pancreas: 506 nTPM
- ovary: 322 nTPM
- adipose tissue: 231 nTPM
Single-cell type
- hepatocytes: 1,002 nCPM
- adrenal cortex cells: 609 nCPM
- oocytes: 557 nCPM
- respiratory secretory cells: 355 nCPM
- ovarian stromal cells: 345 nCPM
- respiratory ciliated cells: 326 nCPM
Immune cell
- classical monocyte: 2.6 nTPM
- plasmacytoid DC: 0.9 nTPM
- total PBMC: 0.8 nTPM
- intermediate monocyte: 0.7 nTPM
- NK-cell: 0.7 nTPM
- myeloid DC: 0.6 nTPM
Brain region
- choroid plexus: 433 nTPM
- thalamus: 253 nTPM
- basal ganglia: 232 nTPM
- cerebellum: 206 nTPM
- midbrain: 201 nTPM
- hypothalamus: 198 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about EPHX1.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 143 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hereditary lipodystrophy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.13
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.06
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- arachidonate metabolic process
- epoxide metabolic process
- response to toxic substance
- xenobiotic metabolic process
- hydrocarbon catabolic process
Molecular functions
- epoxide hydrolase activity
- oxysterol binding
- cis-stilbene-oxide hydrolase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of EPHX1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EPHX1 as an antibody target. Whether an autoantibody or antibody against EPHX1 could matter depends on whether native EPHX1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EPHX1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label EPHX1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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