Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    PNPLA3 patatin-like phospholipase domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 80339, updated on 28-Jun-2015
    Official Symbol
    PNPLA3provided by HGNC
    Official Full Name
    patatin-like phospholipase domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:18590
    See related
    Ensembl:ENSG00000100344; HPRD:12430; MIM:609567; Vega:OTTHUMG00000150555
    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
    ADPN; C22orf20; iPLA(2)epsilon
    Summary
    The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes. [provided by RefSeq, Jul 2008]
    Orthologs
    See PNPLA3 in Epigenomics, MapViewer
    Location:
    22q13.31
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 22 NC_000022.11 (43923739..43947568)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (44319619..44343451)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene DNA-directed RNA polymerase II subunit RPB1-like Neighboring gene sulfotransferase family 4A, member 1 Neighboring gene patatin-like phospholipase domain containing 5 Neighboring gene ribosomal protein L35a pseudogene 36 Neighboring gene SAMM50 sorting and assembly machinery component Neighboring gene parvin, beta Neighboring gene transfer RNA-SeC (TCA) 2-1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
    NHGRI GWA Catalog
    Genome-wide analysis of hepatic lipid content in extreme obesity.
    NHGRI GWA Catalog
    Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
    NHGRI GWA Catalog
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    NHGRI GWA Catalog
    Genome-wide association study of hematological and biochemical traits in a Japanese population.
    NHGRI GWA Catalog
    Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.
    NHGRI GWA Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    NHGRI GWA Catalog
    Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Potential readthrough

    Included gene: SAMM50

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    diolein transacylation activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mono-olein transacylation activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipase A2 activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride lipase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acylglycerol acyl-chain remodeling TAS
    Traceable Author Statement
    more info
     
    glycerophospholipid biosynthetic process TAS
    Traceable Author Statement
    more info
     
    phospholipid metabolic process TAS
    Traceable Author Statement
    more info
     
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    triglyceride acyl-chain remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    patatin-like phospholipase domain-containing protein 3
    Names
    patatin-like phospholipase domain-containing protein 3
    acylglycerol O-acyltransferase
    adiponutrin
    calcium-independent phospholipase A2-epsilon
    iPLA2-epsilon
    iPLA2epsilon
    NP_079501.2

    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_008631.1 RefSeqGene

      Range
      5001..28830
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025225.2NP_079501.2  patatin-like phospholipase domain-containing protein 3

      See identical proteins and their annotated locations for NP_079501.2

      Status: REVIEWED

      Source sequence(s)
      AL138578
      Consensus CDS
      CCDS14054.1
      UniProtKB/Swiss-Prot
      Q9NST1
      Related
      ENSP00000216180, OTTHUMP00000197822, ENST00000216180, OTTHUMT00000318891
      Conserved Domains (1) summary
      cd07221
      Location:8259
      Pat_PNPLA3; Patatin-like phospholipase domain containing protein 3

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p2 Primary Assembly

      Range
      43923739..43947568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018933.2 Alternate CHM1_1.1

      Range
      44278349..44302177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)