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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PON1 Gene

protein-coding GIFtS: 66
GCID: GC07M094926

paraoxonase 1

(Previous symbol: PON)

Explore 173 diseases affiliated with
PON1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Paraoxonase 1¹ ²		Arylesterase B-Type²
PON¹ ² ³ ⁵		Esterase A²
ESA¹ ² ⁵		Paraoxonase B-Type²
Aromatic Esterase 1² ³		Serum Aryldiakylphosphatase²
Serum Aryldialkylphosphatase 1² ³		Serum Paraoxonase/Arylesterase 1²
K-45² ³		EC 3.1.1.2³
A-Esterase 1² ³		EC 3.1.1.81³
PON 1² ³		EC 3.1.8.1³
MVCD5² ⁵

External Ids:	HGNC: 9204¹	Entrez Gene: 5444²	Ensembl: ENSG00000005421⁷	OMIM: 168820⁵	UniProtKB: P27169³

Export aliases for PON1 gene to outside databases

Previous GC identifers: GC07M093462 GC07M094525 GC07M094539 GC07M094571 GC07M094764 GC07M089534

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PON1:

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, Oct 2008)

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169

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

Gene Wiki entry for PON1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000007.13 NC_018918.1 NT_007933.15 NT_079595.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the PON1 gene promoter:
AML1a Sp1 p53 HNF-4alpha1 Evi-1 MZF-1 PPAR-gamma1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PON1 promoter sequence

Search SABiosciences Chromatin IP Primers for PON1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PON1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.3 Ensembl cytogenetic band: 7q21.3 HGNC cytogenetic band: 7q21.3

PON1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PON1 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M094926: view genomic region (about GC identifiers)

Start:	94,926,988 bp from pter	End:	95,025,673 bp from pter
Size:	98,686 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 94,256,665-94,282,884

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169 (See protein sequence)

Recommended Name: Serum paraoxonase/arylesterase 1

Size: 355 amino acids; 39731 Da

Cofactor: Binds 2 calcium ions per subunit

Subunit: Homodimer. Heterooligomer with phosphate-binding protein (HPBP). Interacts with CLU

Subcellular location: Secreted, extracellular space

Miscellaneous: The 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

2 PDB 3D structures from and Proteopedia for PON1:

1V04 (3D)

1XHR (3D)

Secondary accessions: B2RA40 Q16052 Q6B0J6 Q9UCB1

Explore the universe of human proteins at neXtProt for PON1: NX_P27169

Post-translational modifications:

Glycosylated¹

The signal sequence is not cleaved¹

Present in two forms, form B contains a disulfide bond, form A does not¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P27169

PON1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000437.3

ENSEMBL proteins:

ENSP00000222381 ENSP00000407359 ENSP00000444854

Human Recombinant Protein Products:

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	Novus Biologicals PON1 Proteins Novus Biologicals PON1 Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for PON1
	Uscn Proteins for PON1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005615	extracellular space	IDA	7638166
GO:0005792	microsome	--	--
GO:0034364	high-density lipoprotein particle	TAS	10479665
GO:0034366	spherical high-density lipoprotein particle	IDA	16682745

PON1 for ontologies About GeneDecksing

PON1 Antibody Products:

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	Uscn Antibodies for PON1
	ThermoFisher Antibodies for PON1

Assay Products for PON1:

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	R&D Systems ELISAs for PON1 (see all)
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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PON1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PON1 for domains About GeneDecksing

3 InterPro domains/families:

IPR002640 Arylesterase

IPR011042 6-blade_b-propeller_TolB-like

IPR008363 Paraoxonase1

Graphical View of Domain Structure for InterPro Entry P27169

ProtoNet protein and cluster: P27169

1 Blocks protein family: IPB002640 Arylesterase

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169

Similarity: Belongs to the paraoxonase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169

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

Catalytic activity: A phenyl acetate + H(2)O = a phenol + acetate

Catalytic activity: An aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol

Catalytic activity: An N-acyl-L-homoserine lactone + H(2)O = an N-acyl-L-homoserine

Genatlas biochemistry entry for PON1:

paraoxonase,high-density-lipoprotein associated enzyme,susceptibility locus for coronary heart disease but not

myocardial infarction in type 2 diabetic patients and for Parkinson disease in some populations but not in Chinese in

Taiwan

Enzyme Numbers (IUBMB): EC 3.1.1.2¹ EC 3.1.1.81¹ EC 3.1.8.1¹

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		hsa-miR-26a hsa-miR-26b hsa-miR-1297
		SwitchGear 3'UTR luciferase reporter plasmid: PON1 3' UTR sequence

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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for PON1

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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PON1
		Search LifeMap BioReagents cell lines for PON1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PON1

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004063	aryldialkylphosphatase activity	IDA	7638166
GO:0004064	arylesterase activity	NAS	1673382
GO:0005509	calcium ion binding	IDA	15098021
GO:0005543	phospholipid binding	IDA	10479665
GO:0042803	protein homodimerization activity	IDA	15772423

PON1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for PON1:

Increased cell number in G2M,

Animal Models:
Mouse knock-out Pon1^tm1Lus for PON1
3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Pon1):

cardiovascular system

cellular

homeostasis/metabolism

PON1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Phase I, non P450

Phase I, non P450

1.00

Metabolism

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for PON1

Phase I, non P450

1 Kegg Pathway (Kegg details for PON1):

Metabolic pathways

PON1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PON1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

4 Interacting proteins for PON1 (P27169³ ENSP00000222381⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ALB	P02768³, ENSP00000295897⁴	I2D: score=1 STRING: ENSP00000295897
APOA1	P02647³, ENSP00000236850⁴	I2D: score=1 STRING: ENSP00000236850
CLU	ENSP00000315130⁴	STRING: ENSP00000315130
SUMO4	ENSP00000318635⁴	STRING: ENSP00000318635

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	--	--
GO:0008203	cholesterol metabolic process	--	--
GO:0009605	response to external stimulus	NAS	1657140
GO:0009636	response to toxin	IEA	--
GO:0010875	positive regulation of cholesterol efflux	IDA	15721011

PON1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

PON1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PON1

10 HMDB Compounds for PON1 About this table

Compound	Synonyms	CAS #	PubMed Ids
1-Butanol	1-Butanol (see all 10)	71-36-3	--
1-Hexanol	1-Hexyl alcohol (see all 30)	111-27-3	--
1-Pentanol	1-Pentol (see all 34)	71-41-0	--
Atorvastatin	Atorvastatin acid (see all 4)	134523-00-5	--
Ethanol	1-Hydroxyethane (see all 57)	64-17-5	--
Isobutanol	1-Hydroxymethylpropane (see all 18)	78-83-1	--
Isopropyl alcohol	2-Propanol (see all 12)	67-63-0	--
Paraoxon	O,O-Diethyl-O-p-nitrophenylphosphoric acid	311-45-5	--
Phenol	acide carbolique (see all 51)	108-95-2	--
Propyl alcohol	1-Hydroxypropane (see all 17)	71-23-8	--

1 DrugBank Compound for PON1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Cefazolin	Cefazolin sodium (see all 4)	25953-19-9	target	inhibitor	16600468

10/87 Novoseek chemical compound relationships for PON1 gene (see all 87) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
paraoxon	95	203	15924216 (5), 19402156 (4), 11022865 (4), 18597495 (3) (see all 99)
phenylacetate	94.9	132	17444597 (3), 15924216 (3), 15853770 (3), 10421463 (2) (see all 81)
diazoxon	94.3	57	11022865 (3), 19446239 (3), 15924216 (3), 10898114 (2) (see all 25)
chlorpyrifos oxon	79.4	12	18597495 (1), 17504771 (1), 17129656 (1), 18711144 (1) (see all 7)
homocysteine thiolactone	79.3	19	16875684 (2), 17217688 (2), 17543200 (1), 18610586 (1) (see all 10)
lipid hydroperoxide	75.3	7	17301599 (2), 16684543 (1), 18154731 (1), 17335792 (1)
soman	75.2	10	18952040 (2), 17129656 (2), 8896566 (2), 10421440 (1) (see all 6)
sarin	74.4	11	18952040 (2), 8896566 (2), 11724436 (2), 9385372 (1) (see all 6)
cholesterol	74.4	275	15721011 (6), 12351939 (6), 12615663 (5), 7749820 (3) (see all 99)
lipid	72.8	351	15298047 (5), 11916277 (4), 18492126 (4), 16479138 (4) (see all 99)

2 PharmGKB related drug/compound annotations for PON1 gene

Drug/compound	PharmGKB Annotation
Tumor necrosis factor alpha (TNF-alpha) inhibitors	CA
clopidogrel	CA

About this table

Search CenterWatch for drugs/clinical trials and news about PON1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PON1 gene:

NM_000446.5

Unigene Cluster for PON1:

Paraoxonase 1

Hs.370995 [show with all ESTs]

Unigene Representative Sequence: Z70723

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000222381(uc003uns.3 uc011kih.2) ENST00000462594 ENST00000433729

ENST00000470502 ENST00000542556

miRNA Products:		OriGene 3'-UTR Clone: PON1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PON1
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		hsa-miR-26a hsa-miR-26b hsa-miR-1297
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PON1

Additional cDNA sequence:

AK314027.1 BC074719.2 D84371.1 M63012.1 M63013.1 M63014.1 S64615.1 U53784.1

Z70723.1

5 DOTS entries:

DT.40264412 DT.113100 DT.91751049 DT.86859617 DT.95263131

24/51 AceView cDNA sequences (see all 51):

BE504556 BM353989 CB164403 CB156812 BC074719 BM273064 CB161923 M63013

CB162447 AV656816 CB122285 BQ575109 BE550842 M63012 CB156020 CB161971

NM_000446 CB115377 AV691199 M63014 D84371 BV207792 Z70723 U53784

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for PON1 About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8	^	9a	·	9b
SP1:					-
SP2:					-						-
SP3:

ECgene alternative splicing isoforms for PON1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PON1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCATCAAA

About this image

PON1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Body Subcutaneous White Adipose

Adipose

Thoracic Perivascular Adipose

Adipose

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See PON1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PON1

SOURCE GeneReport for Unigene cluster: Hs.370995

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169

Tissue specificity: Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain,

placenta, lung, skeletal muscle, kidney or pancreas

SABiosciences Expression via Pathway-Focused PCR Arrays including PON1:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Drug Metabolism in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PON1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PON1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PON1 gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	PON2⁶	Uncharacterized protein	63(a)	1 → many	2(23811551-23827703)
lizard (Anolis carolinensis)	Reptilia	--	--	58(a)	1 → many	6(22507087-22522423)
African clawed frog (Xenopus laevis)	Amphibia	pon1-prov²	Serum paraoxonase/arylesterase 2	75.23(n)		BC044294.1
zebrafish (Danio rerio)	Actinopterygii	57088761²	--	72.87(n)		57088761
worm (Caenorhabditis elegans)	Secernentea	E01A2.7⁶ E01A2.10⁶ (see all 5)	--	26(a) 25(a) (see all 5)	possible ortholog possible ortholog (see all 5)	I(4142288-4144585) I(4145314-4147138)

ENSEMBL Gene Tree for PON1 (if available)
TreeFam Gene Tree for PON1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for PON1 gene

PON3² PON2²

2 SIMAP similar genes for PON1 using alignment to 6 protein entries: PON1_HUMAN (see all proteins):

PON2 PON3

PON1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169

Polymorphism: The 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

SNP ID	Valid	Clinical significance	Chr 7 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61736513^1,2	C,F,	untested	94273678(+)	`AGATAA/C/TATCAA`	3	I V L	mis¹		2	NS NA	4620
rs662^1,2	C,F,O,H,	other	94266443(-)	`CTTACA/GATCCT`	2	Q R	mis¹ ese³		59	NA EA MN NS WA CSA EU	17913
rs854560^1,2	C,F,	other	94275083(+)	`CTCCAA/C/ G/N/TGTCTT`	5	M L V	mis¹ syn¹		28	MN NS NA CSA WA EA EU	11270
rs3917580^1,2	C,F	--	89534248(-)	`TTTTC-/ATTT ATTTA`	1	--	ds500¹		2	NS	94
rs3917579^1,2	C,F	--	89534375(-)	`ATAGAA/TAGGTA`	1	--	ds500¹ ese³		4	NS NA	92
rs3917578^1,2	F	--	89534378(-)	`AAAATAATA/- GAAAG`	1	--	ds500¹		2	NS	88
rs13306695^1,2	C,F,H,	--	94256842(-)	`TCTTTA/GGAACT`	1	--	ut3¹ ese³		4	NS EA	416
rs3917576^1,2	C,F,H,	--	94256861(-)	`AGCAGG/AGTTAG`	1	--	ut3¹ ese³		19	NS NA EA CSA WA	1736
rs3917575^1,2	C,F,H,	--	94256992(-)	`TCAGTT/CATGTC`	1	--	ut3¹ ese³		15	NS NA WA	1292
rs59744786^1,2	C,	--	94257825(+)	`AGGAGC/ATTAAC`	1	--	int¹		2	WA CSA	3

HapMap Linkage Disequilibrium report for PON1 (94926988 - 95025673 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PON1: --
Human Gene Mutation Database (HGMD): PON1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PON1

DNA2.0 Custom Variant and Variant Library Synthesis for PON1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PON1 for disorders           About GeneDecksing

OMIM gene information: 168820
OMIM disorders: 612633
UniProtKB/Swiss-Prot: PON1_HUMAN, P27169

Genetic variation in PON1 is associated with susceptibility to microvascular complications of diabetes type 5

(MVCD5) [MIM:612633]. These are 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=Homozygosity for the

Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients

20/173 diseases for PON1 (see all 173): About MalaCards

coronary artery spasm 2 organophosphate poisoning, sensitivity to glycogen storage disease type ia cerebral amyloid angiopathy

microvascular complications of diabetes 5 open-angle glaucoma lipoprotein lipase deficiency focal segmental glomerulosclerosis

glycogen storage disease age related macular degeneration carotid artery disease amyotrophic lateral sclerosis

arterial occlusive disease carotid stenosis peripheral arterial occlusive disease aortic valve stenosis

multiple chemical sensitivity polycystic ovary syndrome myocardial infarction pre-eclampsia

4 diseases from the University of Copenhagen DISEASES database for PON1:

Atherosclerosis Coronary heart disease Diabetes mellitus Myocardial infarction

10/95 Novoseek disease relationships for PON1 gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atherosclerosis	82.7	315	11935033 (6), 16627808 (4), 19371607 (4), 9261251 (4) (see all 99)
coronary heart disease	68.4	142	9739487 (3), 10619995 (3), 15243212 (2), 9194756 (2) (see all 78)
cardiovascular diseases	65.6	118	18355454 (3), 15990587 (3), 19474728 (2), 19201174 (2) (see all 74)
coronary artery disease	63.5	91	16797516 (4), 16781370 (2), 15928879 (2), 17525004 (2) (see all 57)
vascular diseases	54.9	55	15995178 (5), 11073850 (3), 12805074 (2), 16729301 (2) (see all 26)
poisoning	51	33	12141395 (2), 12742701 (2), 15922013 (2), 11724436 (2) (see all 24)
gulf war syndrome	49.7	7	11027539 (2), 9703197 (1), 15256524 (1), 16822964 (1) (see all 5)
niddm	48.9	49	9712341 (5), 15124181 (4), 17704557 (4), 9591753 (2) (see all 29)
carotid atherosclerosis	45.4	14	15087255 (2), 19371607 (2), 12204800 (2), 10729387 (2) (see all 8)
diabetes mellitus	41.3	32	9712341 (2), 12679462 (2), 12149827 (2), 9215303 (1) (see all 25)

Genetic Association Database (GAD): PON1
Human Genome Epidemiology (HuGE) Navigator: PON1 (452 documents)

Export disorders for PON1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PON1 gene, integrated from 9 sources (see all 1395):
(articles sorted by number of sources associating them with PON1)

Utopia: connect your pdf to the dynamic
world of online information

New paraoxonase 1 polymorphism I102V and the risk of prostate cancer in Finnish men. (PubMed id 12783936)^{1, 2, 4, 9} Marchesani M.... Salonen J.T. (2003)
Paraoxonase (Pon1) Q192R polymorphism and serum Pon1 activity in diabetic patients on maintenance hemodialysis. (PubMed id 14579940)^{1, 4, 9} Zhang B....Saku K. (2003)
The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status. (PubMed id 15995178)^{1, 4, 9} Rozek L.S....Jarvik G.P. (2005)
Paraoxonase 1 status in the Thai population. (PubMed id 15924216)^{1, 4, 9} Phuntuwate W....Mackness B. (2005)
Genetic polymorphisms and activity of PON1 in a Mexican population. (PubMed id 15922013)^{1, 4, 9} Rojas-Garcia A.E....Quintanilla-Vega B. (2005)
Indications that paraoxonase-1 contributes to plasma high density lipoprotein levels in familial hypercholesterolemia. (PubMed id 15576850)^{1, 4, 9} van Himbergen T.M....van Tits L.J. (2005)
R/R genotype of human paraoxonase (PON1) is more protective against lipoprotein oxidation and coronary artery disease in Japanese subjects. (PubMed id 12740482)^{1, 4, 9} Kuremoto K....Daida H. (2003)
HDL3-related decreased serum paraoxonase (PON) activity in uremic patients: comparison with the PON1 allele polymorphism. (PubMed id 12204423)^{1, 4, 9} Schiavon R....Guidi G. (2002)
[Effects of oxidative DNA damage induced by polycyclic aromatic hydrocarbons and genetic polymorphism of the paraoxonase-1 (PON1) gene on lung cancer] (PubMed id 16323636)^{1, 4, 9} Lee C.H....Kim H. (2005)
Antioxidant effect of atorvastatin is independent of PON1 gene T(-107)C, Q192R and L55M polymorphisms in hypercholesterolaemic patients. (PubMed id 15969877)^{1, 4, 9} Sardo M.A....Saitta A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 5444	HGNC: 9204	AceView: PON1	Ensembl:ENSG00000005421	euGenes: HUgn5444
ECgene: PON1	Kegg: 5444	H-InvDB: PON1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for PON1	Pharmacogenomics, SNPs, Pathways
SeattleSNPs	http://pga.gs.washington.edu/data/pon1/
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PON1

Intellectual Property for PON1 gene
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Patent Information for PON1 gene:
Search GeneIP for patents involving PON1

Licensable Technologies for PON1 gene:

Weizmann Institute:

PON1 for treatment of atherosclerosis

(see all 2)

GeneCards and IP:
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Dementia
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sepsis
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insulin sensitivity
Myocardial Ischemia
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ENDOGENOUS HYPERTRIGLYCERIDEMIA
Hypercholesterolemia
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Polycystic Ovary Syndrome
restenosis
STROKE
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DYSFUNCTION THYROID
chronic liver disease
CEREBROVASCULAR DISEASE
Lymphoma Non-Hodgkins
Glomerulonephritis
NIDDM
Syndrome X
Hypercholesterolemia Familial
Carotid Artery Diseases
Lupus Erythematosus Systemic
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paraoxonase 1

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