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. Polymo... See more...

Aliases for PON1 Gene

Aliases for PON1 Gene

  • Paraoxonase 1 2 3 5
  • Serum Paraoxonase/Arylesterase 1 3 4
  • 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
  • ESA 2 3
  • PON 3 4
  • Serum Aryldiakylphosphatase 3
  • Arylesterase B-Type 3
  • Paraoxonase B-Type 3
  • EC 3.1.1.81 4
  • EC 3.1.1.2 4
  • EC 3.1.8.1 4
  • MVCD5 3
  • PON1 5

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 Arachidonic acid metabolism and Phase I biotransformations, non P450. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phospholipid binding. An important paralog of this gene is PON2.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PON1 Gene

Genomics for PON1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PON1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J095324 Promoter 1 EPDnew Ensembl 271.4 -0.1 -68 0.8 YY1 HNF4A RAD21 REST SP1 TAF1 EED TCF12 RUNX3 PON1 HSALNG0059669 PON3
GH07J095322 Enhancer 0.2 Ensembl 250.7 +1.6 1632 0.6 PON1 ASB4 PON3 HSALNG0059668 PPP1R9A
GH07J095429 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.1 -108.3 -108264 6.8 ZNF600 MYC ZNF580 ZNF592 ZMYM3 CEBPA ATF3 NFIC ZIC2 POLR2A PON2 PON3 ASB4 PON1 ENSG00000233942 lnc-PON3-2 HSALNG0059680
GH07J095439 Enhancer 1.3 FANTOM5 Ensembl ENCODE 13.9 -117.1 -117083 4.2 SSRP1 CEBPA ATF3 CHD4 YY1 ZFP64 HOMEZ KMT2B THAP11 FOXA2 lnc-ASB4-2 piR-57135-071 PON1 PON3 ASB4 PON2 PDK4
GH07J095247 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 16 +78.0 78031 1.8 ZNF654 ZNF580 REST DEK TRIM22 FEZF1 CTCF ZNF610 RAD21 SMC3 PON1 PON3 RNU4-16P lnc-PON1-2 PPP1R9A-AS1 HSALNG0059658 PPP1R9A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PON1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PON1

Top Transcription factor binding sites by QIAGEN in the PON1 gene promoter:
  • AML1a
  • Evi-1
  • HNF-4alpha1
  • MZF-1
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • Sp1

Genomic Locations for PON1 Gene

Latest Assembly
chr7:95,297,676-95,324,532
(GRCh38/hg38)
Size:
26,857 bases
Orientation:
Minus strand

Previous Assembly
chr7:94,926,988-94,953,844
(GRCh37/hg19 by Entrez Gene)
Size:
26,857 bases
Orientation:
Minus strand

chr7:94,926,988-95,025,673
(GRCh37/hg19 by Ensembl)
Size:
98,686 bases
Orientation:
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:
    P27169-PON1_HUMAN
    Recommended name:
    Serum paraoxonase/arylesterase 1
    Protein Accession:
    P27169
    Secondary Accessions:
    • B2RA40
    • Q16052
    • Q6B0J6
    • Q9UCB1

    Protein attributes for PON1 Gene

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

    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

HGNC:
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

GenScript: Design optimal peptide antigens:
  • Serum aryldialkylphosphatase 1 (PON1_HUMAN)
  • Paraoxonase 1 (Q96P89_HUMAN)
  • Paraoxonase 1 (Q96P90_HUMAN)
  • Paraoxonase 1 (Q96P91_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27169

UniProtKB/Swiss-Prot:

PON1_HUMAN :
  • Belongs to the paraoxonase family.
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

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a phenyl acetate + H2O = a phenol + acetate + H(+); Xref=Rhea:RHEA:17309, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30089, ChEBI:CHEBI:33853, ChEBI:CHEBI:140310; EC=3.1.1.2; Evidence={ECO:0000269|PubMed:15098021, ECO:0000269|PubMed:15772423, ECO:0000269|PubMed:1673382, ECO:0000269|PubMed:1718413, ECO:0000269|PubMed:8393742};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=An aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol.; EC=3.1.8.1; Evidence={ECO:0000269|PubMed:15098021, ECO:0000269|PubMed:15772423, ECO:0000269|PubMed:1673382, ECO:0000269|PubMed:1718413, ECO:0000269|PubMed:8393742};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an N-acyl-L-homoserine lactone + H2O = an N-acyl-L-homoserine + H(+); Xref=Rhea:RHEA:22576, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:55474, ChEBI:CHEBI:58921; EC=3.1.1.81; Evidence={ECO:0000269|PubMed:15098021, ECO:0000269|PubMed:15772423};.
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

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 IBA,IDA 7638166
GO:0004064 arylesterase activity IEA,NAS 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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PON1

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

COMPARTMENTS
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 3
endoplasmic reticulum 3
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PON1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA,IDA 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

SIGNOR curated interactions for PON1 Gene

Is activated by:

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:0009636 response to toxic substance IBA 21873635
GO:0010875 positive regulation of cholesterol efflux IDA 15721011
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PON1: view

Drugs & Compounds for PON1 Gene

(65) Drugs for PON1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Atorvastatin Approved Pharma 928
Cefazolin Approved Pharma Target, inhibitor 175
Copper Approved, Investigational Pharma Target 276
Simvastatin Approved Pharma HMG-CoA reductase inhibitor 592
Drospirenone Approved Pharma Enzyme, substrate 121

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
parathion
  • Diethyl p-nitrophenyl thiophosphate
  • Diethyl parathion
  • DNTP
  • Ethyl parathion
  • O,O-Diethyl O-(4-nitrophenyl) thiophosphate
56-38-2
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
71-41-0
4-Hydroxyphenyl acetate
  • 1,4-Benzenediol, monoacetate
  • 4-Acetoxyphenol
  • 4-Hydroxyphenylacetate
  • Hydroquinone monoacetate
  • 1,4-Benzenediol, monoacetic acid
Diethylphosphate
  • Diethylphosphoric acid
  • O,O-Diethylphosphoric acid
  • O,O-Diethylphosphate
  • DEP
  • Di-ethyl phosphate
598-02-7
genes like me logo Genes that share compounds with PON1: view

Transcripts for PON1 Gene

mRNA/cDNA for PON1 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PON1

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: - -
SP3:

Relevant External Links for PON1 Gene

GeneLoc Exon Structure for
PON1

Expression for PON1 Gene

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



Protein tissue co-expression partners for PON1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PON1

SOURCE GeneReport for Unigene cluster for PON1 Gene:

Hs.370995

mRNA Expression by UniProt/SwissProt for PON1 Gene:

P27169-PON1_HUMAN
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(4.3)
  • Heart(2.8)
  • Kidney(2.3)
  • Intestine(2.3)
  • Skin(2.1)
  • Muscle(2.1)

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

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

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia PON1 29 30
  • 99.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PON1 29 30
  • 89.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PON1 29 30
  • 85.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pon1 29 16 30
  • 83.19 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pon1 29
  • 82.54 (n)
Oppossum
(Monodelphis domestica)
Mammalia PON1 30
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PON2 30
  • 67 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 56 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia pon1-prov 29
Zebrafish
(Danio rerio)
Actinopterygii pon2 30
  • 53 (a)
ManyToMany
zgc:174637 30 30
  • 52 (a)
ManyToMany
pon1 30
  • 48 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea poml-3 30
  • 27 (a)
ManyToMany
poml-2 30
  • 26 (a)
ManyToMany
poml-4 30
  • 26 (a)
ManyToMany
mec-6 30
  • 20 (a)
ManyToMany
Species where no ortholog for PON1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for PON1 (if available)
TreeFam:
Gene Tree for PON1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PON1: view image
Alliance of Genome Resources:
Additional Orthologs for PON1

Paralogs for PON1 Gene

Paralogs for PON1 Gene

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

  • PON1_HUMAN
  • F5H4W9_HUMAN
  • F8WF42_HUMAN
  • Q96P89_HUMAN
  • Q96P90_HUMAN
  • Q96P91_HUMAN
genes like me logo Genes that share paralogs with PON1: view

Variants for PON1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PON1 Gene

PON1_HUMAN-P27169
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PON1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
873305 Uncertain Significance: Amyotrophic lateral sclerosis 95,306,358(-) T/C
NM_000446.7(PON1):c.707A>G (p.Tyr236Cys)
MISSENSE
rs148452713 Benign: not provided 95,308,106(-) C/T
NM_000446.7(PON1):c.603G>A (p.Ala201=)
SYNONYMOUS
rs150388378 Likely Benign: not provided 95,315,482(-) C/T
NM_000446.7(PON1):c.210G>A (p.Lys70=)
SYNONYMOUS
rs61736513 Not Provided: not provided 95,315,367(-) C/A
NM_000446.7(PON1):c.325G>T (p.Val109Leu)
MISSENSE
rs662 Association, Risk Factor: Enzyme activity finding; Coronary artery disease, susceptibility to; Coronary artery spasm 2, susceptibility to 95,308,134(-) T/Cp.Gln192Arg
NM_000446.7(PON1):c.575A>G (p.Gln192Arg)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PON1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for PON1 Gene

Human Gene Mutation Database (HGMD)
PON1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PON1
Leiden Open Variation Database (LOVD)
PON1

SNP Genotyping and Copy Number Assays for research

Disorders for PON1 Gene

MalaCards: The human disease database

(61) MalaCards diseases for PON1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
microvascular complications of diabetes 5
  • microvascular complications of diabetes, susceptibility to, 5
amyotrophic lateral sclerosis 1
  • als1
multiple chemical sensitivity
  • 20th century disease
coronary stenosis
  • coronary artery stenosis
carotid artery disease
  • disorder of carotid artery
- elite association - COSMIC cancer census association via MalaCards
Search PON1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PON1_HUMAN
  • 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 variants 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.

Additional Disease Information for PON1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 gene cluster is a genetic marker for early microvascular complications in type 1 diabetes. (PMID: 11918623) Kao Y … Silink M (Diabetic medicine : a journal of the British Diabetic Association 2002) 3 22 40 72
  2. Paraoxonase-1 L55M polymorphism is associated with an abnormal oral glucose tolerance test and differentiates high risk coronary disease families. (PMID: 11889198) Deakin S … European Atherosclerosis Risk Study Group (The Journal of clinical endocrinology and metabolism 2002) 3 22 40 72
  3. Paraoxonase gene Gln192Arg (Q192R) polymorphism is associated with coronary artery spasm. (PMID: 11810302) Ito T … Ogawa H (Human genetics 2002) 3 22 40 72
  4. The molecular basis of the human serum paraoxonase activity polymorphism. (PMID: 8098250) Humbert R … Furlong CE (Nature genetics 1993) 3 4 22 72
  5. Paraoxonase-1 is a major determinant of clopidogrel efficacy. (PMID: 21170047) Bouman HJ … Taubert D (Nature medicine 2011) 3 40 72

Products for PON1 Gene

Sources for PON1 Gene