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PON1 paraoxonase 1 [ Homo sapiens (human) ]

Gene ID: 5444, updated on 27-Nov-2024

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
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Genomic context

See PON1 in Genome Data Viewer
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_000007.14Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 9A Neighboring gene PPP1R9A antisense RNA 1 Neighboring gene RNA, U4 small nuclear 16, pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:94897970-94899169 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18382 Neighboring gene endogenous retrovirus group FRD member 1, envelope pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:95005217-95006416 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: PON3

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 

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)

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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.

Genomic

  1. NG_008779.2 RefSeqGene

    Range
    5175..32031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000446.7NP_000437.3  serum paraoxonase/arylesterase 1

    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
    B2RA40, P27169, Q16052, Q6B0J6, Q9UCB1
    UniProtKB/TrEMBL
    B4DX19
    Related
    ENSP00000222381.3, ENST00000222381.8
    Conserved Domains (2) summary
    pfam01731
    Location:168253
    Arylesterase; Arylesterase
    cl26742
    Location:92295
    SGL; SMP-30/Gluconolaconase/LRE-like region

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    95297676..95324532 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    96533832..96560687 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)