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

Gene ID: 80339, updated on 11-Jun-2021

Summary

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
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
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Genomic context

See PNPLA3 in Genome Data Viewer
Location:
22q13.31
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (43923805..43947582)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (44319685..44343462)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 15126 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

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
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese.
GeneReviews: Not available
Genome-wide analysis of hepatic lipid content in extreme obesity.
GeneReviews: Not available
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.
GeneReviews: Not available
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
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.
GeneReviews: Not available
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SAMM50

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in lipid droplet IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
1-acylglycerol-3-phosphate O-acyltransferase PNPLA3
Names
acylglycerol O-acyltransferase
acylglycerol transacylase
adiponutrin
calcium-independent phospholipase A2-epsilon
iPLA2-epsilon
iPLA2epsilon
lysophosphatidic acid acyltransferase
patatin-like phospholipase domain-containing protein 3
NP_079501.2

NCBI Reference Sequences (RefSeq)

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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
    5067..28844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025225.3NP_079501.2  1-acylglycerol-3-phosphate O-acyltransferase PNPLA3

    See identical proteins and their annotated locations for NP_079501.2

    Status: REVIEWED

    Source sequence(s)
    AL035398, AL138578
    Consensus CDS
    CCDS14054.1
    UniProtKB/Swiss-Prot
    Q9NST1
    Related
    ENSP00000216180.3, ENST00000216180.8
    Conserved Domains (1) summary
    cd07221
    Location:8259
    Pat_PNPLA3; Patatin-like phospholipase domain containing protein 3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    43923805..43947582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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