PON1

Gene Information
 
Gene Symbol
PON1
 
Aliases
ESA, MVCD5, PON
 
Entrez Gene ID
 
Gene Name
Paraoxonase 1
 
Chromosomal Location
7q21.3
 
HGNC ID
 
Summary
The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. (provided by RefSeq)
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0009605 Biological process Response to external stimulus NAS 1657140
GO:0010875 Biological process Positive regulation of cholesterol efflux IDA 15721011
GO:0019439 Biological process Aromatic compound catabolic process IDA 15772423
GO:0032411 Biological process Positive regulation of transporter activity IDA 15721011
GO:0034445 Biological process Negative regulation of plasma lipoprotein particle oxidation IDA 15342686
Protein Information
 
Protein Name
Serum paraoxonase/arylesterase 1
 
Function
Hydrolyzes 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
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF01731 Arylesterase Arylesterase
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Alzheimers disease 19268306, 16319130, 12618290, 17624629, 11803456, 11935033, 15090300, 16780669, 12566597, 19863653, 11328206, 12480756, 16996683, 18322397, 15925115
Antiphospholipid syndrome 12384928, 19755700, 16603439, 10866101
Artery stenosis 11409295
Asthma 19556304, 12235690, 16943596, 19796573
Atherosclerosis 11935033, 16627808, 19371607, 9261251, 16140307, 10694505, 18607188, 10496287, 20221877, 17554394, 8393738, 15346646, 15939049, 18796237, 15922013, 16882531, 19672401, 16875684, 17904830, 11222122, 20037493, 17512573, 17173245, 16684543, 15265000, 12829216, 16052486, 12740482, 20182519, 16792468, 12957728, 17086419, 20078196, 8743898, 9690920, 9703197, 9712341, 10536926, 10078566, 16596803, 10898114, 10407490, 10232833, 19902425, 19275503, 19361349, 18759451, 17537444, 16357806, 19550323, 19359600, 19103284, 19013297, 18279029, 17543199, 16378884, 16423902, 16540037, 12756158, 11855794, 11472729, 10323788, 20221878, 18028194, 17435182, 17118352, 16331452, 9739487, 9711883, 9430369, 19454176, 18976644, 18203326, 17854416, 16949193, 16023312, 16353344, 15607900, 15517772, 15473886, 16855361, 15721011, 15704252, 15298047, 14686479, 14579940, 12018630, 11257265, 10480377, 10421475, 9506841, 8902155, 8390852, 20161844, 16681435, 19902017, 15642273, 15580063, 15336559, 15225502, 15181084
   
References
 
Primary:

Evidence for association between paraoxonase 1 gene polymorphisms and polycystic ovarian syndrome in southwest Chinese women.

Wang Ying, Liu Hongwei, Fan Ping, Bai Huai, Zhang Jinxia, Zhang Feng
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan, People's Republic of China.
Eur J Endocrinol. 2012 May;166(5):877-85. Epub 2012 Feb 2.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS 
192Q/R, 55L/M 
 
Related 
1113 subjects of Chinese Han nationality in Chengdu area (610 patients with PCOS and 503 control women) 
The 192Q/R, but not 55L/M, polymorphism in PON1 gene is associated with the risk of PCOS in south-west Chinese women 
 
PCOS 
-108C/T, 192Q/R, and 55L/M 
 
Direct 
455 PCOS patients, 441 control women 
The serum lactonase activities and concentrations of PON1 are increased in PCOS patients. The increased oxidative stress and the -108C/T, 192Q/R, and 55L/M genetic polymorphisms of PON1 may be associated with these changes 
 
PCOS 
c.-108C>T (PON1-108), c.163T>A (PON1-55), c.575A>G (PON1-192) 
 
Direct 
142 PCOS cases,112 controls 
The decreased PON1 activity-associated PON1-108 TT and the PON1-192 RR genotypes are more frequently found in GreekPCOS women and are associated with hyperandrogenaemia. 
 
PCOS 
-108 C/T 
 
Related 
346 Chinese patients with PCOS and 315 Chinese control women 
This study indicated that the -108 C/T polymorphism in the promoter of PON1 gene was associated with hormonal levels, glucose metabolism and oxidative stress in the control women, but not associated with PCOS in Chinese women of Chengdu area 
 
PCOS 
 
 
Related 
31 PCOS, 33 controls 
Decreased PON1 activity might contribute to an increased propensity for the development of cardiovascular disease in women withPCOS in addition to known risk factors, such as insulin resistance, hypertension, dyslipidemia and increased oxidative stress 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
26061725, PMC4541615
Prenatal Testosterone Treatment Leads to Changes in the Morphology of KNDy Neurons, Their Inputs, and Projections to GnRH Cells in Female Sheep. 
Effect of treatment 
25956367
PON1 polymorphisms are associated with polycystic ovary syndrome susceptibility, related traits, and PON1 activity in Indian women with the syndrome. 
Clinical study 
24840107
The platelet activating factor acetyl hydrolase, oxidized low-density lipoprotein, paraoxonase 1 and arylesterase levels in treated and untreated patients with polycystic ovary syndrome. 
Clinical study 
24649106, PMC3917741
Association of -108 C>T PON1 polymorphism with polycystic ovary syndrome. 
Clinical study 
24517721
The effects of metformin on endothelial dysfunction, lipid metabolism and oxidative stress in women with polycystic ovary syndrome. 
Effect of treatment 

 

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