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Aliases for PON1 Gene

Aliases for PON1 Gene

  • Paraoxonase 1 2 3 5
  • Serum Aryldialkylphosphatase 1 3 4
  • Aromatic Esterase 1 3 4
  • Arylesterase 1 2 3
  • A-Esterase 1 3 4
  • Esterase A 2 3
  • PON 1 3 4
  • K-45 3 4
  • PON 3 4
  • Serum Paraoxonase/Arylesterase 1 3
  • Serum Aryldiakylphosphatase 3
  • Arylesterase B-Type 3
  • Paraoxonase B-Type 3
  • EC 4
  • EC 4
  • EC 4
  • MVCD5 3
  • ESA 3

External Ids for PON1 Gene

Previous HGNC Symbols for PON1 Gene

  • PON

Previous GeneCards Identifiers for PON1 Gene

  • GC07M093462
  • GC07M094525
  • GC07M094539
  • GC07M094571
  • GC07M094764
  • GC07M094926
  • GC07M089534

Summaries for PON1 Gene

Entrez Gene Summary for PON1 Gene

  • 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]

GeneCards Summary for PON1 Gene

PON1 (Paraoxonase 1) is a Protein Coding gene. Diseases associated with PON1 include Microvascular Complications Of Diabetes 5 and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Imipramine/Desipramine Pathway, Pharmacokinetics and Metabolism. GO annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is PON2.

UniProtKB/Swiss-Prot for PON1 Gene

  • 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 Gene

Additional gene information for PON1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PON1 Gene

Genomics for PON1 Gene

Regulatory Elements for PON1 Gene

Enhancers for PON1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H095439 1.3 FANTOM5 ENCODE 13.9 -116.9 -116908 4.2 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 TCF12 ATF7 SP5 PON1 PON3 PON2 PDK4 ASB4
GH07H095429 1.3 Ensembl ENCODE 11.1 -108.1 -108089 6.8 HDGF FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 YY1 PON3 PON2 ASB4 PON1 ENSG00000233942 ENSG00000273138
GH07H095263 0.8 ENCODE 16.4 +60.0 59999 2.7 TBP ATF1 JUN INSM2 MAX SIN3A BRCA1 RFX5 HIC1 POLR2A PON1 PON3 CASD1 PPP1R9A GC07P095276 GC07M095243
GH07H095544 1.1 Ensembl ENCODE 10.5 -221.8 -221829 4.1 RAD21 RFX5 YY1 GTF3C2 ZNF366 FOS SMARCA5 ZNF654 ZNF362 CEBPB ENSG00000231170 PON3 RPS3AP25 PON1 ASB4 ENSG00000279525 PDK4
GH07H095246 1.1 Ensembl ENCODE 10.4 +77.7 77671 0.5 CTCF PKNOX1 RB1 FEZF1 ZNF2 RAD21 POLR2A ZNF366 SMC3 ZNF143 PON1 PON3 RNU4-16P GC07M095243 GC07P095276
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PON1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for PON1 Gene

Genomic Locations for PON1 Gene
27,032 bases
Minus strand

Genomic View for PON1 Gene

Genes around PON1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PON1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PON1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PON1 Gene

Proteins for PON1 Gene

  • Protein details for PON1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serum paraoxonase/arylesterase 1
    Protein Accession:
    Secondary Accessions:
    • B2RA40
    • Q16052
    • Q6B0J6
    • Q9UCB1

    Protein attributes for PON1 Gene

    355 amino acids
    Molecular mass:
    39731 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homodimer. Heterooligomer with phosphate-binding protein (HPBP). Interacts with CLU.
    • 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.

    Three dimensional structures from OCA and Proteopedia for PON1 Gene

neXtProt entry for PON1 Gene

Post-translational modifications for PON1 Gene

Other Protein References for PON1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PON1 Gene

Domains & Families for PON1 Gene

Gene Families for PON1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins
  • Transporters

Protein Domains for PON1 Gene

Suggested Antigen Peptide Sequences for PON1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the paraoxonase family.
  • Belongs to the paraoxonase family.
genes like me logo Genes that share domains with PON1: view

Function for PON1 Gene

Molecular function for PON1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot CatalyticActivity:
A phenyl acetate + H(2)O = a phenol + acetate.
UniProtKB/Swiss-Prot CatalyticActivity:
An aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol.
UniProtKB/Swiss-Prot CatalyticActivity:
An N-acyl-L-homoserine lactone + H(2)O = an N-acyl-L-homoserine.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PON1 Gene

Phenotypes From GWAS Catalog for PON1 Gene

Gene Ontology (GO) - Molecular Function for PON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004063 aryldialkylphosphatase activity IDA 7638166
GO:0004064 arylesterase activity NAS,IEA 1673382
GO:0005509 calcium ion binding IDA 15098021
GO:0005543 phospholipid binding IDA 10479665
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PON1: view
genes like me logo Genes that share phenotypes with PON1: view

Human Phenotype Ontology for PON1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PON1 Gene

MGI Knock Outs for PON1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for PON1 Gene

Localization for PON1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PON1 Gene

Secreted, extracellular space.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PON1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
peroxisome 1
nucleus 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS,IEA --
GO:0005615 extracellular space IDA,IEA 7638166
GO:0034364 high-density lipoprotein particle TAS 10479665
GO:0034366 spherical high-density lipoprotein particle IDA 16682745
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with PON1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PON1 Gene

Pathways & Interactions for PON1 Gene

genes like me logo Genes that share pathways with PON1: view

Pathways by source for PON1 Gene

Gene Ontology (GO) - Biological Process for PON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
GO:0009605 response to external stimulus NAS 1657140
GO:0009636 response to toxic substance IBA,IEA --
GO:0010875 positive regulation of cholesterol efflux IDA 15721011
genes like me logo Genes that share ontologies with PON1: view

No data available for SIGNOR curated interactions for PON1 Gene

Drugs & Compounds for PON1 Gene

(56) Drugs for PON1 Gene - From: DrugBank, PharmGKB, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Cefazolin Approved Pharma Target, inhibitor 124
Copper Approved Pharma Target 188
Simvastatin Approved Pharma Competitive, Inhibitor 528
Zinc Approved Pharma Target 2359

(52) Additional Compounds for PON1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • O,O-Diethyl-O-p-nitrophenylphosphoric acid
  • Alkron
  • Alleron
  • American cyanamid 3422
  • Aphamite
  • Aqua 9-Parathion
  • 1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Alcohol C-6
  • Alcohol(C6)
  • 1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Alcool amylique (french)
4-Hydroxyphenyl acetate
genes like me logo Genes that share compounds with PON1: view

Transcripts for PON1 Gene

mRNA/cDNA for PON1 Gene

Unigene Clusters for PON1 Gene

Paraoxonase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PON1 Gene

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

Relevant External Links for PON1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PON1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PON1 Gene

mRNA differential expression in normal tissues according to GTEx for PON1 Gene

This gene is overexpressed in Liver (x48.0).

Protein differential expression in normal tissues from HIPED for PON1 Gene

This gene is overexpressed in Plasma (24.1), Serum (21.7), and Synovial fluid (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PON1 Gene

Protein tissue co-expression partners for PON1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PON1 Gene:


SOURCE GeneReport for Unigene cluster for PON1 Gene:


mRNA Expression by UniProt/SwissProt for PON1 Gene:

Tissue specificity: Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain, placenta, lung, skeletal muscle, kidney or pancreas.

Evidence on tissue expression from TISSUES for PON1 Gene

  • Liver(4.8)
  • Blood(4.6)
  • Nervous system(4.5)
  • Bone marrow(4.1)
  • Heart(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PON1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
  • biliary tract
  • liver
  • stomach
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PON1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PON1 Gene

Orthologs for PON1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PON1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PON1 33 34
  • 99.53 (n)
(Canis familiaris)
Mammalia PON1 33 34
  • 89.11 (n)
(Bos Taurus)
Mammalia PON1 33 34
  • 85.35 (n)
(Mus musculus)
Mammalia Pon1 33 16 34
  • 83.19 (n)
(Rattus norvegicus)
Mammalia Pon1 33
  • 82.54 (n)
(Monodelphis domestica)
Mammalia PON1 34
  • 70 (a)
(Gallus gallus)
Aves PON2 34
  • 67 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
African clawed frog
(Xenopus laevis)
Amphibia pon1-prov 33
(Danio rerio)
Actinopterygii pon2 34
  • 53 (a)
zgc:174637 34 34
  • 52 (a)
pon1 34
  • 48 (a)
(Caenorhabditis elegans)
Secernentea poml-3 34
  • 27 (a)
poml-2 34
  • 26 (a)
poml-4 34
  • 26 (a)
mec-6 34
  • 20 (a)
Species where no ortholog for PON1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PON1 Gene

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

Paralogs for PON1 Gene

Paralogs for PON1 Gene

(2) SIMAP similar genes for PON1 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PON1: view

Variants for PON1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PON1 Gene

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.

Sequence variations from dbSNP and Humsavar for PON1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs662 other 95,308,134(-) CTTAC(A/G)ATCCT reference, missense
rs705379 other 95,324,583(+) GCCCC(A/G)CCCCT upstream-variant-2KB
rs854560 other 95,316,772(+) CTCCA(A/C/G/N/T)GTCTT reference, missense
rs61736513 untested 95,315,367(+) AGATA(A/C/T)ATCAA reference, missense
rs1000364356 -- 95,301,019(+) TTAAC(A/G)CTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PON1 Gene

Variant ID Type Subtype PubMed ID
nsv5851 CNV deletion 18451855
nsv528555 CNV loss 19592680
nsv1023193 CNV gain 25217958
nsv1015973 CNV loss 25217958
esv3571999 CNV loss 25503493

Variation tolerance for PON1 Gene

Residual Variation Intolerance Score: 91.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.06; 80.32% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PON1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for PON1 Gene

MalaCards: The human disease database

(31) MalaCards diseases for PON1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
microvascular complications of diabetes 5
  • diabetic nephropathy
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
coronary artery disease
  • coronary artery anomaly
coronary stenosis
  • coronary artery stenosis
artery disease
  • arteriopathic disease
- elite association - COSMIC cancer census association via MalaCards
Search PON1 in MalaCards View complete list of genes associated with diseases


  • Microvascular complications of diabetes 5 (MVCD5) [MIM:612633]: 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=Disease susceptibility is associated with variations affecting the gene represented in this entry. Homozygosity for the Leu-55 allele is strongly associated with the development of retinal disease in diabetic patients.

Relevant External Links for PON1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PON1: view

No data available for Genatlas for PON1 Gene

Publications for PON1 Gene

  1. Paraoxonase status and plasma butyrylcholinesterase activity in chlorpyrifos manufacturing workers. (PMID: 19223938) Albers JW … Richardson RJ (Journal of exposure science & environmental epidemiology 2010) 3 22 45 60
  2. Paraoxonase 1, agricultural organophosphate exposure, and Parkinson disease. (PMID: 19907334) Manthripragada AD … Ritz B (Epidemiology (Cambridge, Mass.) 2010) 3 22 45 60
  3. The role of polymorphisms within paraoxonases (192 Gln/Arg in PON1 and 311Ser/Cys in PON2) in the modulation of cardiovascular risk: a pilot study. (PMID: 19939821) Gluba A … Rysz J (Angiology 2010) 3 22 45 60
  4. The relationship between paraoxonase1-192 polymorphism and activity with coronary artery disease. (PMID: 20026099) Mohamed RH … Abd El-Aziz TA (Clinical biochemistry 2010) 3 22 45 60
  5. Longitudinal changes in PON1 enzymatic activities in Mexican-American mothers and children with different genotypes and haplotypes. (PMID: 20045427) Huen K … Holland N (Toxicology and applied pharmacology 2010) 3 22 45 60

Products for PON1 Gene

Sources for PON1 Gene

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