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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
    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