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FLASH GENE
Symbol PON1 contributors: npt/mct - updated : 29-11-2017
HGNC name paraoxonase 1
HGNC id 9204
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 26.21 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
text structure
  • CA repeat region
  • proximal -230 to -96 bp region of the promoter contains regulatory element(s) necessary for promoter activity and bile acid repression
  • MAPPING cloned Y linked Y status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 1769 - 355 - 1999 10052953
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbrain   moderately
    Respiratorylung   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion serum, plasma
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer heteromer , oligo
    HOMOLOGY
    interspecies homolog to rattus Pon1 (80.56 pc)
    homolog to murine Pon1 (81.97 pc)
    Homologene
    FAMILY
  • paraoxonase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    text secreted by the liver and transported in the blood complexed to HDL
    basic FUNCTION
  • hydrolyzing the toxic metabolites of a variety of organophosphorous insecticides
  • may mediate an enzymatic protection of low density lipoproteins against oxidative modification
  • leading to anti-atherogenic effects by specifically binding to macrophage binding sites
  • having antioxidative and atheroprotective role
  • high-density lipoprotein (HDL)-bound enzyme that exerts antiatherogenic properties by protecting low-density lipoprotein (LDL)-cholesterol from oxidative modification
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS detoxification
    PATHWAY
    metabolism
    signaling
    a component
  • MPO, PON1, and high-density lipoprotein bind to one another, forming a ternary complex, wherein PON1 partially inhibits MPO activity, while MPO inactivates PON1
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
  • binding to macrophage
  • REGULATION
    repressed by bile acids through the actions of NR1H4 and FGF19
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in atherosclerosis
    constitutional     --low  
    in patients with calcific aortic valve stenosis (AS) and its activity was inversely correlated with the severity of AS
    Susceptibility
  • to coronary heart disease but not myocardial infarction
  • atherosclerosis
  • pesticide poisoning
  • exsudative age-related macular degeneration
  • to abdominal aortic aneurysm (Giusti 2008)
  • Alzheimer disease (AD)
  • to sporadic amyotrophic lateral sclerosis
  • to attaining longevity
  • to strocke
  • Variant & Polymorphism SNP , other
  • Arg192 allele increased survival at extreme advanced age
  • polymorphism 192Q/R, 55M/L,and promoter variant 107C/T increases protection against coronary artery disease
  • -161[C/T] SNP in creasing the risk of Alzheimer
  • Q192R polymorphism increasing the risk of sporadic amyotrophic lateral sclerosis and associated with stroke and myocardial infarction
  • variants at codon 192 impact on the probability of attaining longevity
  • Q192R polymorphism could be an important risk factor for stroke
  • rs854563 associated with coronary atherosclerosis
  • multiple variants in PON influence serum paraoxonase activity, and low serum paraoxonase activity is a risk factor for AD
  • Candidate gene
    Marker
    Therapy target
  • for future cardio protection therapy via the macrophage PON1 binding sites
  • ANIMAL & CELL MODELS