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MGP002370

UniProt Annotations

Entry Information
Gene Nameparaoxonase 1
Protein EntryPON1_HUMAN
UniProt IDP27169
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityAn aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol.
Catalytic ActivityAn N-acyl-L-homoserine lactone + H(2)O = an N- acyl-L-homoserine.
Catalytic ActivityA phenyl acetate + H(2)O = a phenol + acetate.
CofactorName=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 2 calcium ions per subunit.;
DiseaseMicrovascular complications of diabetes 5 (MVCD5) [MIM:612633]: Pathological conditions that develop in numerous tissues and organs as a consequence of diabetes mellitus. They include diabetic retinopathy, diabetic nephropathy leading to end- stage renal disease, and diabetic neuropathy. Diabetic retinopathy remains the major cause of new-onset blindness among diabetic adults. It is characterized by vascular permeability and increased tissue ischemia and angiogenesis. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Homozygosity for the Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients.
FunctionHydrolyzes the toxic metabolites of a variety of organophosphorus insecticides. Capable of hydrolyzing a broad spectrum of organophosphate substrates and lactones, and a number of aromatic carboxylic acid esters. Mediates an enzymatic protection of low density lipoproteins against oxidative modification and the consequent series of events leading to atheroma formation. {ECO:0000269|PubMed:10479665, ECO:0000269|PubMed:15772423}.
MiscellaneousThe preferential association of PON1 with HDL is mediated in part by its signal peptide, by binding phospholipids directly, rather than binding apo AI. The retained signal peptide may allow transfer of the protein between phospholipid surfaces.
PolymorphismThe allelic form of the enzyme with Gln-192 (allozyme A) hydrolyzes paraoxon with a low turnover number and the one with Arg-192 (allozyme B) with a high turnover number.
PtmGlycosylated. {ECO:0000269|PubMed:14760718, ECO:0000269|PubMed:16335952, ECO:0000269|PubMed:19159218}.
PtmPresent in two forms, form B contains a disulfide bond, form A does not.
PtmThe signal sequence is not cleaved.
SimilarityBelongs to the paraoxonase family. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space.
SubunitHomodimer. Heterooligomer with phosphate-binding protein (HPBP). Interacts with CLU. {ECO:0000269|PubMed:15098021, ECO:0000269|PubMed:15772423, ECO:0000269|PubMed:16531243, ECO:0000269|PubMed:8292612}.
Tissue SpecificityPlasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas. {ECO:0000269|PubMed:8292612, ECO:0000269|PubMed:8382160}.
Web ResourceName=SeattleSNPs; URL="http://pga.gs.washington.edu/data/pon1/";
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PON1";
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