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_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (43923805..43947582)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (44406936..44430721)
105.20220307	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
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?

Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
Title: Impact of PNPLA3 I148M on alpha-1 antitrypsin deficiency-dependent liver disease progression.
The PNPLA3 I148M variant increases ketogenesis and decreases hepatic de novo lipogenesis and mitochondrial function in humans.
Title: The PNPLA3 I148M variant increases ketogenesis and decreases hepatic de novo lipogenesis and mitochondrial function in humans.
Parental History of Type 2 Diabetes Mellitus and PNPLA3 Polymorphism Increase the Risk of Severe Stages of Nonalcoholic Fatty Liver Disease.
Title: Parental History of Type 2 Diabetes Mellitus and PNPLA3 Polymorphism Increase the Risk of Severe Stages of Nonalcoholic Fatty Liver Disease.
Association of liver fibrosis with extrahepatic cancer in steatotic liver disease patients with PNPLA3 I148M GG genotype.
Title: Association of liver fibrosis with extrahepatic cancer in steatotic liver disease patients with PNPLA3 I148M GG genotype.
PNPLA3-associated mitochondrial dysfunction.
Title: PNPLA3-associated mitochondrial dysfunction.
A study of genetic variants, genetic risk score and DNA methylation of PNPLA3 and TM6SF2 in alcohol liver cirrhosis.
Title: A study of genetic variants, genetic risk score and DNA methylation of PNPLA3 and TM6SF2 in alcohol liver cirrhosis.
Impact of PNPLA3 rs738409 Polymorphism on the Development of Liver-Related Events in Patients With Nonalcoholic Fatty Liver Disease.
Title: Impact of PNPLA3 rs738409 Polymorphism on the Development of Liver-Related Events in Patients With Nonalcoholic Fatty Liver Disease.
Interaction between estrogen receptor-alpha and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women.
Title: Interaction between estrogen receptor-α and PNPLA3 p.I148M variant drives fatty liver disease susceptibility in women.
The greater impact of PNPLA3 polymorphism on liver-related events in Japanese non-alcoholic fatty liver disease patients: A multicentre cohort study.
Title: The greater impact of PNPLA3 polymorphism on liver-related events in Japanese non-alcoholic fatty liver disease patients: A multicentre cohort study.
Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.
Title: Association of HSD17B13 and PNPLA3 With Liver Enzymes and Fibrosis in Hispanic/Latino Individuals of Diverse Genetic Ancestries.

Submit: New GeneRIF Correction See all GeneRIFs (405)

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 triglyceride lipase activity	IBA Inferred from Biological aspect of Ancestor more info
enables triglyceride lipase activity	IDA Inferred from Direct Assay more info	PubMed
enables triglyceride 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.