PON1: Polycystic Ovarian Syndrome Database

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PON1

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

PON1

Aliases

ESA, MVCD5, PON

Entrez Gene ID

5444

Gene Name

Paraoxonase 1

Chromosomal Location

7q21.3

HGNC ID

HGNC:9204

Summary

This gene encodes a member of the paraoxonase family of enzymes and exhibits lactonase and ester hydrolase activity. Following synthesis in the kidney and liver, the enzyme is secreted into the circulation, where it binds to high density lipoprotein (HDL) particles and hydrolyzes thiolactones and xenobiotics, including paraoxon, a metabolite of the insecticide parathion. Polymorphisms in this gene may be associated with coronary artery disease and diabetic retinopathy. The gene is found in a cluster of three related paraoxonase genes on chromosome 7. [provided by RefSeq, Aug 2017]

RefSeq DNA

NG_008779.2

RefSeq mRNA

NM_000446.7

e!Ensembl

Gene	ENSG00000005421
Transcript	ENST00000222381, ENST00000433729
Protein	ENSP00000222381, ENSP00000407359

Gene Ontology (GO)

Show/Hide all(25 )

GO ID	Ontology	Function	Evidence	Reference
GO:0009636	Biological process	Response to toxic substance	IBA	21873635
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 oxidation	IDA	15342686
GO:0046395	Biological process	Carboxylic acid catabolic process	IDA	7638166
GO:0046434	Biological process	Organophosphate catabolic process	IDA	7638166
GO:0046470	Biological process	Phosphatidylcholine metabolic process	IDA	15721011
GO:0051099	Biological process	Positive regulation of binding	IDA	15721011
GO:0005576	Cellular component	Extracellular region	NAS	14718574
GO:0005615	Cellular component	Extracellular space	IBA	21873635
GO:0005615	Cellular component	Extracellular space	IDA	7638166
GO:0034364	Cellular component	High-density lipoprotein particle	IDA	15721011
GO:0034364	Cellular component	High-density lipoprotein particle	TAS	10479665
GO:0034366	Cellular component	Spherical high-density lipoprotein particle	IDA	16682745
GO:0070062	Cellular component	Extracellular exosome	HDA	23533145
GO:0072562	Cellular component	Blood microparticle	HDA	22516433
GO:0004063	Molecular function	Aryldialkylphosphatase activity	IBA	21873635
GO:0004063	Molecular function	Aryldialkylphosphatase activity	IDA	7638166, 15098021
GO:0004064	Molecular function	Arylesterase activity	IBA	21873635
GO:0004064	Molecular function	Arylesterase activity	IDA	7638166, 15098021
GO:0004064	Molecular function	Arylesterase activity	NAS	1673382
GO:0005509	Molecular function	Calcium ion binding	IDA	15098021
GO:0005543	Molecular function	Phospholipid binding	IDA	10479665
GO:0042803	Molecular function	Protein homodimerization activity	IDA	15772423

Protein Information

Protein Name

Serum paraoxonase/arylesterase 1, A-esterase 1, K-45, PON 1, aromatic esterase 1, arylesterase 1, arylesterase B-type, esterase A, paraoxonase B-type, serum aryldiakylphosphatase, serum aryldialkylphosphatase 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

NP_000437.3

UniProt

P27169

PDB

1V04, 1XHR

Pfam

Pfam Accession	Pfam ID
PF01731	Arylesterase

Pathways
	Reactome
		Synthesis of 5-eicosatetraenoic acids

Interactions

STRING	MINT	IntAct
ENSP00000282091		P01270

View interactions

Associated Diseases

Show/Hide all(13 )

Disease group	Disease Name	References
Cardiovascular Diseases
	Arteriosclerosis	8675673, 9215303, 21629682
	Hemorrhoids	19022366
	Coronary Artery Vasospasm	11810302
	Atherosclerosis	26241956, 16216721, 19371607, 21629682, 16331452, 16229851
	Heart Failure	26670611
	Acute Coronary Syndrome	26241956
	Coronary heart disease	16882531, 16353344
	Heart Diseases	28396702
	Myocardial Failure	26670611
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Status Dysraphicus	21031563
Digestive System Diseases
	Fatty Liver	26945512
	Hepatitis	16099942
	Liver Diseases	16099942
	Periodontitis	19003935
	Cholestasis	27989131
Ear Or Mastoid Diseases
Ear Or Mastoid Diseases	Meniere Disease	28787010
Endocrine System Diseases
	Glomerulosclerosis	26884296
	Diabetes Mellitus	19003935, 19022366, 16229851
	Hyperthyroidism	14678291
	PCOS	295546656, 22301914
Eye Diseases
Eye Diseases	Diabetic Retinopathy	20012460, 9661650
Immune System Diseases
	Glomerulonephritis	16175651
	Rheumatoid Arthritis	16055108
Neoplasms
	Lung Cancer	16323636
	Primitive Neuroectodermal Tumor	16002382
	Prostate cancer	12783936, 21716162, 15538743
	Brain Neoplasms	16002382
	Medulloepithelioma	16002382
	Hematologic Neoplasms	22800774
	Spongioblastoma	16002382
	Neoplasms	16002382
	Hematopoietic Neoplasms	22800774
	Ependymoblastoma	16002382
	Lymphoma	22800774
Nervous System Diseases
	Lateral Sclerosis	17204329, 28070599
	Parkinson Disease	26457621
	Spina Bifida	21031563
Nutritional and Metabolic Diseases
	Hyperhomocysteinemia	17292331, 19028542
	Metabolic Syndrome X	21573798
	Hypercholesterolemia	16030523, 16238680, 16229851
	Hyperlipoproteinemia	15324535, 16030523, 16238680
	Metabolic Diseases	28396702
	Gluocose Intolerance	19401444
Psychiatric/Brain disorders
	Bipolar Disorder	21783258, 25037113, 24679385, 25600537
	Autistic Disorder	16027737, 16297937, 22490277
	Melancholia	19272368
	Mental Depression	19272368
	Schizophrenia	19018234, 11880198
	Obstructive Sleep Apnea	30244352
Renal Disorder
Renal Disorder	Diabetic Nephropathy	26884296
Reproductive disorders
	Male infertility	22206979, 21561808
	Preeclampsia	29938347

References

Show/Hide all(5)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22301914		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
25575948		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
23278234		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.
21355294		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
17977159		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

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