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    PON1 paraoxonase 1 [ Homo sapiens (human) ]

    Gene ID: 5444, updated on 19-Nov-2017
    Official Symbol
    PON1provided by HGNC
    Official Full Name
    paraoxonase 1provided by HGNC
    Primary source
    HGNC:HGNC:9204
    See related
    Ensembl:ENSG00000005421 MIM:168820; Vega:OTTHUMG00000153894
    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]
    Orthologs
    Location:
    7q21.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (95298357..95324572, 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 histidine triad nucleotide binding protein 1 pseudogene 2 Neighboring gene RNA, U4 small nuclear 16, pseudogene Neighboring gene HERV-FRD provirus ancestral Env polyprotein pseudogene Neighboring gene paraoxonase 3

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    Products Interactant Other Gene Complex Source Pubs Description

    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 IDA
    Inferred from Direct Assay
    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 external stimulus NAS
    Non-traceable Author Statement
    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
     
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    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 
    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

    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, OTTHUMP00000204571, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      95298357..95324572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      94857684..94883916 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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