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FLASH GENE
Symbol PON1 contributors: npt/mct - updated : 29-11-2017
HGNC name paraoxonase 1
HGNC id 9204
Location 7q21.3      Physical location : 94.927.670 - 94.953.884
Synonym name
  • aryldialkylphosphatase, calcium-dependent organophosphatase
  • esterase A
  • serum aryldiakylphosphatase
  • aromatic esterase 1
  • Synonym symbol(s) PON, ESA, MVCD5, K-45
    EC.number 3.1.1.2, 3.1.8.1
    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
    Physical map
    MGC40405 7q21.3 hypothetical protein MGC40405 CDK6 7q21-q22 cyclin-dependent kinase 6 FLJ20073 7q21.3 FLJ20073 protein FLJ39885 7q21.3 hypothetical protein FLJ39885 LOC253012 7q21.3 hypothetical protein LOC253012 FLJ20097 7q21.3 hypothetical protein FLJ20097 CALCR 7q21.3 calcitonin receptor LOC346588 7q21.3 similar to Protein C6orf66 (HSPC125) (My013 protein) TFPI2 7q22 tissue factor pathway inhibitor 2 GNGT1 7q21.3 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1 GNG11 7q21.3 guanine nucleotide binding protein (G protein), gamma 11 BET1 7q21.1-q22 BET1 homolog (S. cerevisiae) COL1A2 7q21.3 collagen, type I, alpha 2 CAS1 7q21.3 O-acetyltransferase SGCE 7q21.3 sarcoglycan, epsilon PEG10 7q21 paternally expressed 10 LOC392073 7 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 LOC392074 7 similar to dJ133P16.1 (ADP-ribosylation factor 1) PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A PON1 7q21.3 paraoxonase 1 PON3 7q21.3 paraoxonase 3 PON2 7q21.3 paraoxonase 2 ASB4 7q21-q22 ankyrin repeat and SOCS box-containing 4 PDK4 7q21.3 pyruvate dehydrogenase kinase, isoenzyme 4 LOC389533 7 LOC389533 DNCI1 7q21.3 dynein, cytoplasmic, intermediate polypeptide 1 SLC25A13 7q21.3 solute carrier family 25, member 13 (citrin) HCP18 7q21.3 cytochrome c, somatic pseudogene SHFM1 LOC392075 7 similar to Ser/Thr protein kinase PAR-1Balpha DLX6 7q21.3 distal-less homeo box 6 DLX5 7q21.3 distal-less homeo box 5 ACN9 7q22.1 ACN9 homolog (S. cerevisiae) LOC392076 7 similar to Rpl7a protein TAC1 7q21.3-q22.1 tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) ASNS 7q21.3 asparagine synthetase LOC389534 7 LOC389534 LOC389535 7 similar to hypothetical protein LOC286031 LOC389536 7 similar to seven transmembrane helix receptor
    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