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

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; AllianceGenome:HGNC:18590
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: mouse all
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Genomic context

Location:: 22q13.31

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (43923805..43947582)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (44406936..44430721)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (44319685..44343462)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Epidemiological Study on the Interaction between the PNPLA3 (rs738409) and Gut Microbiota in Metabolic Dysfunction-Associated Steatotic Liver Disease.
Title: Epidemiological Study on the Interaction between the PNPLA3 (rs738409) and Gut Microbiota in Metabolic Dysfunction-Associated Steatotic Liver Disease.
The health care experience of adults with metabolic dysfunction-associated steatohepatitis and influence of PNPLA3: A qualitative study.
Title: The health care experience of adults with metabolic dysfunction-associated steatohepatitis and influence of PNPLA3: A qualitative study.
PNPLA3 risk allele is associated with risk of hepatocellular carcinoma but not decompensation in compensated cirrhosis.
Title: PNPLA3 risk allele is associated with risk of hepatocellular carcinoma but not decompensation in compensated cirrhosis.
Integrating genetic and socioeconomic data to predict the progression of nonalcoholic fatty liver disease.
Title: Integrating genetic and socioeconomic data to predict the progression of nonalcoholic fatty liver disease.
Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin.
Title: Genotypic variation in CYP2E1, GCKR, and PNPLA3 among nonalcoholic steatohepatitis patients of Turkish origin.
Exploring the impact of the PNPLA3 I148M variant on primary human hepatic stellate cells using 3D extracellular matrix models.
Title: Exploring the impact of the PNPLA3 I148M variant on primary human hepatic stellate cells using 3D extracellular matrix models.
Associations of dietary sugars with liver stiffness in Latino adolescents with obesity differ on PNPLA3 and liver disease severity.
Title: Associations of dietary sugars with liver stiffness in Latino adolescents with obesity differ on PNPLA3 and liver disease severity.
A PNPLA3-Deficient iPSC-Derived Hepatocyte Screen Identifies Pathways to Potentially Reduce Steatosis in Metabolic Dysfunction-Associated Fatty Liver Disease.
Title: A PNPLA3-Deficient iPSC-Derived Hepatocyte Screen Identifies Pathways to Potentially Reduce Steatosis in Metabolic Dysfunction-Associated Fatty Liver Disease.
PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans.
Title: PNPLA3 fatty liver allele was fixed in Neanderthals and segregates neutrally in humans.
No association of NAFLD-related polymorphisms in PNPLA3 and TM6SF2 with all-cause and cardiovascular mortality in an Austrian population study.
Title: No association of NAFLD-related polymorphisms in PNPLA3 and TM6SF2 with all-cause and cardiovascular mortality in an Austrian population study.

Submit: New GeneRIF Correction See all GeneRIFs (419)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of hepatic lipid content in extreme obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables acylglycerol O-acyltransferase activity	TAS Traceable Author Statement more info
enables diolein transacylation activity	IDA Inferred from Direct Assay more info	PubMed
enables lipoprotein lipase activity	TAS Traceable Author Statement more info
enables long-chain fatty acyl-CoA binding	IDA Inferred from Direct Assay more info	PubMed
enables lysophosphatidic acid acyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables lysophosphatidic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables mono-olein transacylation activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipase A2 activity	IDA Inferred from Direct Assay more info	PubMed
enables triacylglycerol lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triacylglycerol lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables triacylglycerol lipase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in acylglycerol acyl-chain remodeling	TAS Traceable Author Statement more info
involved_in cellular response to 3,3',5-triiodo-L-thyronine	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in glycerophospholipid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lipid homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in long-chain fatty acid metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in phosphatidic acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to sucrose	IEA Inferred from Electronic Annotation more info
involved_in triglyceride acyl-chain remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in triglyceride catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in triglyceride catabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in white fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
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
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

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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

EC 2.3.1.51

EC 3.1.1.3

EC 3.1.1.4

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.