PON1 paraoxonase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PON1provided by HGNC
Official Full Name: paraoxonase 1provided by HGNC
Primary source: HGNC:HGNC:9204
See related: Ensembl:ENSG00000005421 MIM:168820; AllianceGenome:HGNC:9204
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ESA; PON; MVCD5
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]
Expression: Restricted expression toward liver (RPKM 222.6) See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (95297676..95324532, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (96533832..96560687, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (94926988..94953844, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PON1 has palmitoyl-protein thioesterase (PPT) activity, and can affect the presence of SR-B1 on the endothelial cell membrane.
Title: PON1 has palmitoyl-protein thioesterase (PPT) activity, and can affect the presence of SR-B1 on the endothelial cell membrane.
The Association of the Cholesterol Efflux Capacity with the Paraoxonase 1 Q192R Genotype and the Paraoxonase Activity.
Title: The Association of the Cholesterol Efflux Capacity with the Paraoxonase 1 Q192R Genotype and the Paraoxonase Activity.
At the end, it is POT1 again: Phosphorylation allows human telomeric protein POT1 to recruit the C-rich strand end replication machinery.
Title: At the end, it is POT1 again: Phosphorylation allows human telomeric protein POT1 to recruit the C-rich strand end replication machinery.
PON1 rs662, rs854560 and TRIB1 rs17321515, rs2954029 Gene Polymorphisms Are Associated with Lipid Parameters in Patients with Unstable Angina.
Title: PON1 rs662, rs854560 and TRIB1 rs17321515, rs2954029 Gene Polymorphisms Are Associated with Lipid Parameters in Patients with Unstable Angina.
PON1, APOE and SDF-1 Gene Polymorphisms and Risk of Retinal Vein Occlusion: A Case-Control Study.
Title: PON1, APOE and SDF-1 Gene Polymorphisms and Risk of Retinal Vein Occlusion: A Case-Control Study.
Paraoxonase 1 Activity and Phenotype Distribution in Lumbar Disc Herniation Patients.
Title: Paraoxonase 1 Activity and Phenotype Distribution in Lumbar Disc Herniation Patients.
[Association of the -c.108C>T and c.192Q>R polymorphisms of the PON1 gene with preeclampsia among Chinese women].
Title: [Association of the -c.108C>T and c.192Q>R polymorphisms of the PON1 gene with preeclampsia among Chinese women].
mTOR-dependent loss of PON1 secretion and antiphospholipid autoantibody production underlie autoimmunity-mediated cirrhosis in transaldolase deficiency.
Title: mTOR-dependent loss of PON1 secretion and antiphospholipid autoantibody production underlie autoimmunity-mediated cirrhosis in transaldolase deficiency.
Role of PON1 L55M Gene Polymorphism in Parkinson's Disease among North Indian Population.
Title: Role of PON1 L55M Gene Polymorphism in Parkinson's Disease among North Indian Population.
The association of paraoxonase I gene polymorphisms Q192R (rs662) and L55M (rs854560) and its activity with metabolic syndrome components in fars ethnic group.
Title: The association of paraoxonase I gene polymorphisms Q192R (rs662) and L55M (rs854560) and its activity with metabolic syndrome components in fars ethnic group.

Submit: New GeneRIF Correction See all GeneRIFs (1022)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Microvascular complications of diabetes, susceptibility to, 5 MedGen: C2674665 OMIM: 612633 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism. EBI GWAS Catalog EBI GWAS CatalogPubMed
Clinical and genetic association of serum paraoxonase and arylesterase activities with cardiovascular risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH92541 (e-PCR)
- UniSTS:84043

STS-M63012 (e-PCR)
- UniSTS:46466

NoName (e-PCR)
- UniSTS:481927

G44327 (e-PCR)
- UniSTS:95116

GDB:194296 (e-PCR)
- UniSTS:155789

RH12859 (e-PCR)
- UniSTS:63408

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acyl-L-homoserine-lactone lactonohydrolase activity	IDA Inferred from Direct Assay more info	PubMed
enables aryldialkylphosphatase activity	IBA Inferred from Biological aspect of Ancestor more info
enables aryldialkylphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables arylesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arylesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables arylesterase activity	NAS Non-traceable Author Statement more info	PubMed
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carboxylic acid catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in lactone catabolic process	IDA Inferred from Direct Assay more info	PubMed
NOT involved_in negative regulation of plasma lipoprotein oxidation	IDA Inferred from Direct Assay more info	PubMed
involved_in organophosphate catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidylcholine metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in response to toxic substance	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to toxic substance	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
part_of high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
part_of high-density lipoprotein particle	TAS Traceable Author Statement more info	PubMed
part_of spherical high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: serum paraoxonase/arylesterase 1

Names: 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

NP_000437.3

EC 3.1.1.2

EC 3.1.1.81

EC 3.1.8.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.