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FLASH GENE
Symbol EPHX1 contributors: mct - updated : 02-02-2015
HGNC name epoxide hydrolase 1, microsomal (xenobiotic)
HGNC id 3401
Corresponding disease
EPHX1 fetal hydantoin syndrome
Location 1q42.12      Physical location : 225.997.796 - 226.033.260
Synonym name
  • Microsomal epoxide hydrolase
  • Synonym symbol(s) EPHX, MEH, EPOX, HYL1
    EC.number 3.3.2.9
    DNA
    TYPE functioning gene
    STRUCTURE 35.46 kb     9 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    KIAA0483 1q42.12 KIAA0483 protein LOC388746 1 LOC388746 DEGS 1q41 degenerative spermatocyte homolog, lipid desaturase (Drosophila) NVL 1q41-q42.2 nuclear VCP-like HSPC163 1q42.12 HSPC163 protein WDR26 1q42.12-q42.13 WD repeat domain 26 FLJ38993 1q42.13 hypothetical protein FLJ38993 MGC27277 1q42.13 hypothetical protein MGC27277 LOC388747 1 similar to RIKEN cDNA A230079K17 LOC127602 1q42.13 similar to KIAA1697 protein LBR 1q42.1 lamin B receptor ENAH 1q41 enabled homolog (Drosophila) SRP9 1q42.13 signal recognition particle 9kDa LEFTY3 1q42.1 LEFTY family pseudogene EPHX1 1q42.1 epoxide hydrolase 1, microsomal (xenobiotic) KIAA0792 1q42.13 epoxide hydrolase 1, microsomal (xenobiotic) LEFTB 1q42.1 left-right determination, factor B P5CR2 1q42.13 pyrroline 5-carboxylate reductase isoform EBAF 1q42.1 endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily) FLJ35382 1q42.13 hypothetical protein FLJ35382 H3F3A 1q41 H3 histone, family 3A ACBD3 1q42.13 acyl-Coenzyme A binding domain containing 3 MIXL1 1q41 Mix1 homeobox-like 1 (Xenopus laevis) TGS 1q42.13 TUDOR gene similar ADPRT 1q42 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) LOC391168 1 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC391169 1 similar to hypothetical protein D11Ertd497e LOC388748 1 LOC388748 LOC388749 1 LOC388749 ITPKB 1q41-q42 inositol 1,4,5-trisphosphate 3-kinase B LOC391170 1 similar to hypothetical protein PSEN2 1q42.1 presenilin 2 (Alzheimer disease 4) CABC1 1q42.11 chaperone, ABC1 activity of bc1 complex like (S. pombe) CDC42BPA 1q42.11 CDC42 binding protein kinase alpha (DMPK-like) LOC343363 1q42.13 similar to basic transcription factor 3
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1678 - 455 - -
    9 - 1847 - 455 - -
    9 - 2085 - 455 - -
    - - - - - predominant driver of EPHX1 expression in all human tissues 2013 23564882
    - - - - - readily detected in all tissues examined, with highest levels maintained in human ovary 2013 23564882
  • possesses unusual functional features in its 5prime-untranslated region, including a GC-rich leader sequence and two upstream AUGs that encode for short peptides of 26 and 17 AAs in length, respectively
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY peptidase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • dihydroorotase, catalyzing the third step of the pyrimidine de novo biosynthesis (see CAD)
  • bifunctional protein playing a central role in carcinogen metabolism and mediating the sodium-dependent uptake of bile acids into hepatocytes
  • detoxifies genotoxic compounds and participates in the removal of reactive oxygen species (ROS)
  • plays a central role in the detoxification of potentially genotoxic epoxide intermediates
  • critical xenobiotic-metabolizing enzyme, catalyzing both detoxification and bioactivation reactions that direct the disposition of chemical epoxides, including the carcinogenic metabolites of several polycyclic aromatic hydrocarbons
  • can regulate estradiol concentrations, indicating a role for EPHX1 in steroidogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    nucleotide
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SP1 and SP3 are functionally involved as transcriptional integrators regulating the basal expression of the derived EPHX1 E1b variant transcript
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EPHX1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    by methylation of the EPHX1 promoter might be associated with polycystic ovary syndrome
    Susceptibility
  • to preeclampsia
  • to fetal hydantoin syndrome
  • to chronic obstructive pulmonary disease
  • to development of childhood ALL
  • Variant & Polymorphism SNP
  • Tyr113 His139
  • increasing the risk of chronic obstructive pulmonary disease
  • EPHX1 Tyr113His polymorphism together with DNA protein XRCC1 Arg399Gln variant known for its deficient DNA repair capacity would represent more prominent risk factors for the development of childhood ALL
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS