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PON1 paraoxonase 1 [ Homo sapiens (human) ]

Gene ID: 5444, updated on 8-Dec-2018

Summary

Official Symbol
PON1provided by HGNC
Official Full Name
paraoxonase 1provided by HGNC
Primary source
HGNC:HGNC:9204
See related
Ensembl:ENSG00000005421 MIM:168820
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

Genomic context

See PON1 in Genome Data Viewer
Location:
7q21.3
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (95297676..95324706, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94927669..94953884, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 9A Neighboring gene uncharacterized LOC105375405 Neighboring gene RNA, U4 small nuclear 16, pseudogene Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene Neighboring gene paraoxonase 3

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Microvascular complications of diabetes 5
MedGen: C2674665 OMIM: 612633 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PON3

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acyl-L-homoserine-lactone lactonohydrolase activity TAS
Traceable Author Statement
more info
 
aryldialkylphosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aryldialkylphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
arylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
arylesterase activity IDA
Inferred from Direct Assay
more info
PubMed 
arylesterase activity NAS
Non-traceable Author Statement
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
aromatic compound catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
carboxylic acid catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
lipoxygenase pathway TAS
Traceable Author Statement
more info
 
NOT negative regulation of plasma lipoprotein oxidation IDA
Inferred from Direct Assay
more info
PubMed 
organophosphate catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylcholine metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of binding IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
response to fluoride IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 
high-density lipoprotein particle TAS
Traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IEA
Inferred from Electronic Annotation
more info
 
spherical high-density lipoprotein particle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_008779.2 RefSeqGene

    Range
    5001..32031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000446.6NP_000437.3  serum paraoxonase/arylesterase 1 precursor

    See identical proteins and their annotated locations for NP_000437.3

    Status: REVIEWED

    Source sequence(s)
    AC004022, AV652982, BC074719, BJ993711, M63014
    Consensus CDS
    CCDS5638.1
    UniProtKB/Swiss-Prot
    P27169
    Related
    ENSP00000222381.3, ENST00000222381.7
    Conserved Domains (2) summary
    pfam01731
    Location:168253
    Arylesterase; Arylesterase
    cl26742
    Location:92295
    SGL; SMP-30/Gluconolaconase/LRE-like region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    95297676..95324706 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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