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    PON1 paraoxonase 1 [ Homo sapiens (human) ]

    Gene ID: 5444, updated on 16-Jul-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
    NEW
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (95297676..95324532, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (96533832..96560687, complement)
    105.20220307 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 HERV-FRD provirus ancestral Env polyprotein 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)

    NEW Try the new Transcript table

    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_2023_10

    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)