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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PON1 Gene

protein-coding   GIFtS: 67
GCID: GC07M094926

Paraoxonase 1


(Previous symbol: PON)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Paraoxonase 11 2     MVCD52 5
PON1 2 3 5     Arylesterase B-Type2
Esterase A1 2     Paraoxonase B-Type2
Aromatic Esterase 12 3     Serum Aryldiakylphosphatase2
Serum Aryldialkylphosphatase 12 3     Serum Paraoxonase/Arylesterase 12
K-452 3     EC 3.1.1.23
A-Esterase 12 3     EC 3.1.1.813
PON 12 3     EC 3.1.8.13
ESA2 5     

External Ids:    HGNC: 92041   Entrez Gene: 54442   Ensembl: ENSG000000054217   OMIM: 1688205   UniProtKB: P271693   

Export aliases for PON1 gene to outside databases

Previous GC identifers: GC07M093462 GC07M094525 GC07M094539 GC07M094571 GC07M094764 GC07M089534


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PON1 Gene:
The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol.
Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the
insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found
in a cluster of three related paraoxonase genes at 7q21.3. (provided by RefSeq, Oct 2008)

GeneCards Summary for PON1 Gene: 
PON1 (paraoxonase 1) is a protein-coding gene. Diseases associated with PON1 include carotid artery disease, and microvascular complications of diabetes 5, and among its related super-pathways are Metabolism. GO annotations related to this gene include phospholipid binding and calcium ion binding. An important paralog of this gene is PON3.

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169
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

Gene Wiki entry for PON1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PON1 gene promoter:
         AML1a   Sp1   p53   HNF-4alpha1   Evi-1   MZF-1   PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PON1 promoter sequence
   Search SABiosciences Chromatin IP Primers for PON1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PON1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q21.3   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3

PON1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PON1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M094926:  view genomic region     (about GC identifiers)

Start:
94,926,988 bp from pter      End:
95,025,673 bp from pter
Size:
98,686 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 94,256,665-94,282,884     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PON1_HUMAN, P27169 (See protein sequence)
Recommended Name: Serum paraoxonase/arylesterase 1  
Size: 355 amino acids; 39731 Da
Cofactor: Binds 2 calcium ions per subunit
Subunit: Homodimer. Heterooligomer with phosphate-binding protein (HPBP). Interacts with CLU
Subcellular location: Secreted, extracellular space
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
2 PDB 3D structures from and Proteopedia for PON1:
1V04 (3D)        1XHR (3D)    
Secondary accessions: B2RA40 Q16052 Q6B0J6 Q9UCB1

Explore the universe of human proteins at neXtProt for PON1: NX_P27169

Explore proteomics data for PON1 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated
  • UniProtKB: The signal sequence is not cleaved
  • UniProtKB: Present in two forms, form B contains a disulfide bond, form A does not
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P27169

  • PON1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PON1 Protein Expression
    REFSEQ proteins: NP_000437.3  
    ENSEMBL proteins: 
     ENSP00000222381   ENSP00000407359   ENSP00000444854  

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    Novus Biologicals PON1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for PON1
    Cloud-Clone Corp. Proteins for PON1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS14718574
    GO:0005615extracellular space IDA7638166
    GO:0034364high-density lipoprotein particle TAS10479665
    GO:0034366spherical high-density lipoprotein particle IDA16682745
    GO:0043231intracellular membrane-bounded organelle IEA--

    PON1 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for PON1 
    Cloud-Clone Corp. CLIAs for PON1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PON: Paraoxonases

    3 InterPro protein domains:
     IPR002640 Arylesterase
     IPR011042 6-blade_b-propeller_TolB-like
     IPR008363 Paraoxonase1

    Graphical View of Domain Structure for InterPro Entry P27169

    ProtoNet protein and cluster: P27169

    1 Blocks protein domain: IPB002640 Arylesterase

    UniProtKB/Swiss-Prot: PON1_HUMAN, P27169
    Similarity: Belongs to the paraoxonase family


    PON1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PON1_HUMAN, P27169
    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
    Catalytic activity: A phenyl acetate + H(2)O = a phenol + acetate
    Catalytic activity: An aryl dialkyl phosphate + H(2)O = dialkyl phosphate + an aryl alcohol
    Catalytic activity: An N-acyl-L-homoserine lactone + H(2)O = an N-acyl-L-homoserine

         Genatlas biochemistry entry for PON1:
    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): EC 3.1.1.21 EC 3.1.1.811 EC 3.1.8.11

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004063aryldialkylphosphatase activity IDA15098021
    GO:0004064arylesterase activity NAS1673382
    GO:0005509calcium ion binding IDA15098021
    GO:0005543phospholipid binding IDA10479665
    GO:0016844strictosidine synthase activity ----
         
    PON1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PON1:
     Increased cell number in G2M,  

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pon1):
     cardiovascular system  cellular  homeostasis/metabolism 

    PON1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Pon1tm1Lus for PON1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PON1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PON1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PON1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PON1 

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    hsa-miR-26a hsa-miR-26b hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidPON1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PON1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PON1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    2Phase I, non P450
    Phase I, non P450

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for PON1
        Phase I, non P450



    1         Kegg Pathway  (Kegg details for PON1):
        Metabolic pathways


    PON1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PON1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for PON1 (P271693 ENSP000002223814) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    CLUENSP000003151304STRING: ENSP00000315130
    SUMO4ENSP000003186354STRING: ENSP00000318635
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0008203cholesterol metabolic process IEA--
    GO:0009058biosynthetic process ----
    GO:0009605response to external stimulus NAS1657140
    GO:0009636response to toxic substance IEA--

    PON1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PON1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PON1

    10 HMDB Compounds for PON1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    AtorvastatinAtorvastatin acid (see all 4)134523-00-5--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--
    ParaoxonO,O-Diethyl-O-p-nitrophenylphosphoric acid 311-45-5--
    Phenolacide carbolique (see all 51)108-95-2--
    Propyl alcohol1-Hydroxypropane (see all 17)71-23-8--

    1 DrugBank Compound for PON1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CefazolinCefazolin sodium (see all 4)25953-19-9targetinhibitor16600468

    10/87 Novoseek inferred chemical compound relationships for PON1 gene (see all 87)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraoxon 95 203 15924216 (5), 19402156 (4), 11022865 (4), 18597495 (3) (see all 99)
    phenylacetate 94.9 132 17444597 (3), 15924216 (3), 15853770 (3), 10421463 (2) (see all 81)
    diazoxon 94.3 57 11022865 (3), 19446239 (3), 15924216 (3), 10898114 (2) (see all 25)
    chlorpyrifos oxon 79.4 12 18597495 (1), 17504771 (1), 17129656 (1), 18711144 (1) (see all 7)
    homocysteine thiolactone 79.3 19 16875684 (2), 17217688 (2), 17543200 (1), 18610586 (1) (see all 10)
    lipid hydroperoxide 75.3 7 17301599 (2), 16684543 (1), 18154731 (1), 17335792 (1)
    soman 75.2 10 18952040 (2), 17129656 (2), 8896566 (2), 10421440 (1) (see all 6)
    sarin 74.4 11 18952040 (2), 8896566 (2), 11724436 (2), 9385372 (1) (see all 6)
    cholesterol 74.4 275 15721011 (6), 12351939 (6), 12615663 (5), 7749820 (3) (see all 99)
    lipid 72.8 351 15298047 (5), 11916277 (4), 18492126 (4), 16479138 (4) (see all 99)

    2 PharmGKB related drug/compound annotations for PON1 gene    About this table
    Drug/compound PharmGKB Annotation
    Tumor necrosis factor alpha (TNF-alpha) inhibitorsCA  
    clopidogrelCA  

    Search CenterWatch for drugs/clinical trials and news about PON1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PON1 gene: 
    NM_000446.5  

    Unigene Cluster for PON1:

    Paraoxonase 1
    Hs.370995  [show with all ESTs]
    Unigene Representative Sequence: Z70723
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000222381(uc003uns.3 uc011kih.2) ENST00000462594 ENST00000433729
    ENST00000470502 ENST00000542556

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    SwitchGear 3'UTR luciferase reporter plasmidPON1 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK314027.1 BC074719.2 D84371.1 M63012.1 M63013.1 M63014.1 S64615.1 U53784.1 
    Z70723.1 

    5 DOTS entries:

    DT.40264412  DT.113100  DT.91751049  DT.86859617  DT.95263131 

    24/51 AceView cDNA sequences (see all 51):

    M63013 CB164403 CB122285 BM353989 CB162447 BQ575109 BC074719 CB156812 
    BM273064 AV656816 BE504556 CB161923 BE550842 CB161971 CB156020 U53784 
    AV651038 AV691199 M63012 AV693905 BX110996 BF433207 CB124854 NM_000446 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PON1    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:              -                                                                     
    SP2:              -                 -                                                   
    SP3:                                                                                    


    ECgene alternative splicing isoforms for PON1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PON1 expression in normal human tissues (normalized intensities)      PON1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCATCAAA
    PON1 Expression
    About this image


    PON1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             skeletal muscle ; myocytes   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
     
     Adrenal Gland (Endocrine System)    fully expand to see all 2 entries
             adrenal gland ; glandular cells   
             adrenal cortex   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    See PON1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PON1

    SOURCE GeneReport for Unigene cluster: Hs.370995

    UniProtKB/Swiss-Prot: PON1_HUMAN, P27169
    Tissue specificity: Plasma, associated with HDL (at protein level). Expressed in liver, but not in heart, brain,
    placenta, lung, skeletal muscle, kidney or pancreas

        SABiosciences Expression via Pathway-Focused PCR Arrays including PON1: 
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Drug Metabolism in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PON1 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pon11 , 5 paraoxonase 11, 5 83.19(n)1
    82.25(a)1
      6 (1.99 cM)5
    189791  NM_011134.31  NP_035264.21 
     51680905 
    chicken
    (Gallus gallus)
    Aves PON26
    serum paraoxonase/arylesterase 2 precursor
    66(a)
    1 → many
    2(23977867-23996726)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    56(a)
    1 → many
    6(22503357-22522885)
    African clawed frog
    (Xenopus laevis)
    Amphibia pon1-prov2 Serum paraoxonase/arylesterase 2 75.23(n)    BC044294.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570887612   -- 72.87(n)    57088761 
    worm
    (Caenorhabditis elegans)
    Secernentea poml-36
    poml-26
    (see all 4)
    Protein POML-2
    (see all 4)
    26(a)
    26(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    I(4145312-4147136)
    I(4142286-4144583)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PON1 gene
    PON32  PON22  
    2 SIMAP similar genes for PON1 using alignment to 6 protein entries:     PON1_HUMAN (see all proteins):
    PON2    PON3

    PON1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: PON1_HUMAN, P27169
    Polymorphism: 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


    10/712 SNPs in PON1 are shown (see all 712)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617365131,2
    C,Funtested198251297(+) AGATAA/C/TATCAA 2 V L mis12NS NA 4620
    rs6621,2,4
    C,F,O,Hother198244066(-) CTTACA/GATCCT 2 Q R mis1 ese359Minor allele frequency- N:0.00NA EA MN NS WA CSA EU 17913
    rs8545601,2,4
    C,Fother198252702(+) CTCCAA/C/    
       G
    /N/T
    GTCTT
    2 M L mis128MN NS NA CSA WA EA EU 11270
    VAR_0158824
    ----see VAR_0158822 I V mis40--------
    rs39175621,2
    C,F--94261662(-) AAGCAAGCA/-  
            
    TGGAG
    1 -- int13Minor allele frequency- -:0.28NS CSA 92
    rs718678961,2
    C--94261670(+) TTGCT-/TTCT  
            
    CCATC
    1 -- int10--------
    rs347096241,2
    C--94262659(+) TTTTT-/TAGATG 1 -- int12Minor allele frequency- T:0.25NA 4
    rs1389324371,2
    C--94265382(+) TTTTT-/TAAAAAA 1 -- int10--------
    rs105485701,2
    C--94266787(+) ACGTCGT/-GTGTG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs1414824661,2
    C--94266787(+) ACGTC-/GTG   
       TGTGT
    GTGTG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for PON1 (94926988 - 95025673 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PON1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv528555CNV Loss19592680
    nsv888741CNV Loss21882294
    nsv5851CNV Loss18451855
    nsv888740CNV Gain21882294


    Human Gene Mutation Database (HGMD): PON1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 168820   
    OMIM disorders: 612633  
    UniProtKB/Swiss-Prot: PON1_HUMAN, P27169
  • 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

  • 20/157 diseases for PON1 (see all 157):    About MalaCards
    carotid artery disease    microvascular complications of diabetes 5    carotid stenosis    coronary heart disease
    multiple chemical sensitivity    thalassemia minor    coronary stenosis    vitamin b12 deficiency
    cerebral amyloid angiopathy    membranoproliferative glomerulonephritis    osteoporotic fracture    lipoprotein lipase deficiency
    familial hypercholesterolemia    cerebrovascular disease    hereditary angioedema    hypercholesterolemia
    hypertriglyceridemia    antiphospholipid syndrome    iron deficiency anemia    arterial occlusive disease

    4 diseases from the University of Copenhagen DISEASES database for PON1:
    Atherosclerosis     Coronary heart disease     Diabetes mellitus     Myocardial infarction

    PON1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/95 Novoseek inferred disease relationships for PON1 gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atherosclerosis 82.7 315 11935033 (6), 16627808 (4), 19371607 (4), 9261251 (4) (see all 99)
    coronary heart disease 68.4 142 9739487 (3), 10619995 (3), 15243212 (2), 9194756 (2) (see all 78)
    cardiovascular diseases 65.6 118 18355454 (3), 15990587 (3), 19474728 (2), 19201174 (2) (see all 74)
    coronary artery disease 63.5 91 16797516 (4), 16781370 (2), 15928879 (2), 17525004 (2) (see all 57)
    vascular diseases 54.9 55 15995178 (5), 11073850 (3), 12805074 (2), 16729301 (2) (see all 26)
    poisoning 51 33 12141395 (2), 12742701 (2), 15922013 (2), 11724436 (2) (see all 24)
    gulf war syndrome 49.7 7 11027539 (2), 9703197 (1), 15256524 (1), 16822964 (1) (see all 5)
    niddm 48.9 49 9712341 (5), 15124181 (4), 17704557 (4), 9591753 (2) (see all 29)
    carotid atherosclerosis 45.4 14 15087255 (2), 19371607 (2), 12204800 (2), 10729387 (2) (see all 8)
    diabetes mellitus 41.3 32 9712341 (2), 12679462 (2), 12149827 (2), 9215303 (1) (see all 25)

    Genetic Association Database (GAD): PON1
    Human Genome Epidemiology (HuGE) Navigator: PON1 (452 documents)

    Export disorders for PON1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PON1 gene, integrated from 9 sources (see all 1449):
    (articles sorted by number of sources associating them with PON1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New paraoxonase 1 polymorphism I102V and the risk of prostate cancer in Finnish men. (PubMed id 12783936)1, 2, 4, 9 Marchesani M.... Salonen J.T. (2003)
    2. Relationship of paraoxonase 1 (PON1) gene polymorphisms and functional activity with systemic oxidative stress and cardiovascular risk. (PubMed id 18349088)1, 4, 9 Bhattacharyya T....Hazen S.L. (2008)
    3. Paraoxonase (Pon1) Q192R polymorphism and serum Pon1 activity in diabetic patients on maintenance hemodialysis. (PubMed id 14579940)1, 4, 9 Zhang B....Saku K. (2003)
    4. Paraoxonase (PON1) and the risk for coronary heart disease and myocardial infarction in a general population of Dutch women. (PubMed id 18164014)1, 4, 9 van Himbergen T.M....Roest M. (2008)
    5. The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status. (PubMed id 15995178)1, 4, 9 Rozek L.S....Jarvik G.P. (2005)
    6. Effect of atorvastatin on paraoxonase1 (PON1) and oxi dative status. (PubMed id 19904013)1, 4, 9 Nagila A....Porntadavity S. (2009)
    7. High-density lipoprotein cholesterol and paraoxonase 1 (PON1) genetics and serum PON1 activity in prepubertal children in Spain. (PubMed id 18601602)1, 4, 9 Garces C....de Oya M. (2008)
    8. Association between PON 1 polymorphisms, PON activity and diabetes complications. (PubMed id 16949520)1, 4, 9 Hofer S.E....Donaghue K.C. (2006)
    9. Paraoxonase 1 status in the Thai population. (PubMed id 15924216)1, 4, 9 Phuntuwate W....Mackness B. (2005)
    10. Longitudinal changes in PON1 enzymatic activities in Mexican-American mothers and children with different genotypes and haplotypes. (PubMed id 20045427)1, 4, 9 Huen K....Holland N. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5444 HGNC: 9204 AceView: PON1 Ensembl:ENSG00000005421 euGenes: HUgn5444
    ECgene: PON1 Kegg: 5444 H-InvDB: PON1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PON1 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/pon1/
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=PON1

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PON1 gene:
    Search GeneIP for patents involving PON1

    Licensable Technologies for PON1 gene:
    Weizmann Institute:PON1 for treatment of atherosclerosis    (see all 2)
    GeneCards and IP:
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