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

Gene ID: 80339, updated on 3-Jun-2018
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 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]
Expression
Biased expression in liver (RPKM 8.6), kidney (RPKM 3.4) and 4 other tissues See more
Orthologs
See PNPLA3 in Genome Data Viewer
Location:
22q13.31
Exon count:
9
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC107987326 Neighboring gene parvin beta

  • 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?

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
acylglycerol O-acyltransferase activity TAS
Traceable Author Statement
more info
 
catalytic activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
diolein transacylation activity IDA
Inferred from Direct Assay
more info
PubMed 
lipoprotein lipase activity TAS
Traceable Author Statement
more info
 
long-chain fatty acyl-CoA binding IDA
Inferred from Direct Assay
more info
PubMed 
lysophosphatidic acid acyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
lysophosphatidic acid binding 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
triglyceride lipase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
acylglycerol acyl-chain remodeling TAS
Traceable Author Statement
more info
 
glycerophospholipid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
lipid homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid particle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
long-chain fatty acid metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidic acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
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
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
patatin-like phospholipase domain-containing protein 3
Names
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
    ENSP00000216180.3, OTTHUMP00000197822, ENST00000216180.7, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

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