PNPLA3 - patatin like phospholipase domain containing 3 Gene

Also Known as ADPN; C22orf20; iPLA(2)epsilon

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80339

About PNPLA3

Cytogenetic location: 22q13.31 Genomic coordinates (GRCh38): 22:43,923,805-43,947,582 (from NCBI)

This gene has 5 transcripts (splice variants), 303 orthologues, 4 paralogues and is associated with 1 phenotype. Biased expression in liver (RPKM 8.6), kidney (RPKM 3.4) and 4 other tissues.

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]

PNPLA3 Products (1)

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables 1-acylglycerol-3-phosphate O-acyltransferase activity	IDA IDA: Inferred from direct assay	22560221	GOA
enables diolein transacylation activity	IDA IDA: Inferred from direct assay	15364929	GOA
enables long-chain fatty acyl-CoA binding	IDA IDA: Inferred from direct assay	22560221	GOA
enables lysophosphatidic acid acyltransferase activity	IDA IDA: Inferred from direct assay	22560221	GOA
enables lysophosphatidic acid binding	IDA IDA: Inferred from direct assay	22560221	GOA
enables mono-olein transacylation activity	IDA IDA: Inferred from direct assay	15364929	GOA
enables phospholipase A2 activity	IDA IDA: Inferred from direct assay	15364929	GOA
enables triacylglycerol lipase activity	IDA IDA: Inferred from direct assay	15364929	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in glycerophospholipid metabolic process	IDA IDA: Inferred from direct assay	22560221	GOA
involved in lipid droplet organization	IMP IMP: Inferred from mutant phenotype	23398201	GOA
involved in long-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	22560221	GOA
involved in phosphatidic acid biosynthetic process	IDA IDA: Inferred from direct assay	22560221	GOA
involved in triglyceride acyl-chain remodeling	IDA IDA: Inferred from direct assay	24511104	GOA
involved in triglyceride biosynthetic process	IDA IDA: Inferred from direct assay	15364929	GOA
involved in triglyceride catabolic process	IDA IDA: Inferred from direct assay	15364929	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in lipid droplet	IDA IDA: Inferred from direct assay	20034933	GOA
located in membrane	IDA IDA: Inferred from direct assay	22560221	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PNPLA3 Protein Structure

Patatin

0
100
200
300
400
481 a.a.

Protein Preferred Names	Protein Names
1-acylglycerol-3-phosphate O-acyltransferase PNPLA3	acylglycerol O-acyltransferase

Related Diseases

Diseases	Alias
Fatty Liver Disease	Alcoholic Fatty Liver Fatty Liver Fatty Liver, Alcoholic Fatty Change Of Liver Hepatic Lipidosis Steatosis Of Liver Fatty Liver Alcoholic Steatohepatitis Etoh Fatty Liver Etoh Fatty Liver Metamorphosis Fatty Etoh Liver Necrosis
Non-Alcoholic Fatty Liver Disease	Fatty Liver Non-Alcoholic Fatty Liver Nafld Nonalcoholic Fatty Liver Disease Nonalcoholic Steatohepatitis Steatosis Nafl Nash Non-Alcoholic Steatohepatitis Susceptibility To Nonalcoholic Fatty Liver Disease Steatohepatitis Fatty Degeneration Non-Alcoholic Fatty Liver Disease Without Mention Of Non-Alcoholic Steatohepatitis Nafld Without Nash Nafld Without Mention Of Nash
Liver Disease	Liver Failure Liver Diseases Abnormality Of The Liver Liver Dysfunction Disorder Of Liver Hepatic Disorder Hepatic Disease Disease Of Bilirubin Metabolism Disorder Of Bilirubin Metabolism Liver Decompensation Liver Function Failure Hepatic Failure Nos Liver Failure Nos End Stage Liver Disease Decompensated Liver Failure Decompensation Of Liver Function Hepatic Decompensation Hepatic Insufficiency Liver Cell Necrosis With Hepatic Failure Liver Insufficiency Decompensated Liver Disease End Stage Liver Failure Liver Necrosis With Hepatic Failure
Non-Alcoholic Steatohepatitis	Nonalcoholic Steatohepatitis Nash Nash - [Non-Alcoholic Steatohepatitis] Non-Alcoholic Steatohepatosis
Lipid Storage Disease	Lipoidosis Inborn Lipid Storage Disorder Lipoid Storage Diseas Lipid Storage Diseases Lipidoses
Liver Cirrhosis	Cirrhosis Cirrhosis Of Liver CIRRH Cryptogenic Cirrhosis Cirrhosis, Cryptogenic Cirrhosis Nos
Nodular Nonsuppurative Panniculitis	Weber-Christian Disease Relapsing Febrile Nodular Nonsuppurative Panniculitis Idiopathic Nodular Panniculitis Pfeiffer-Weber-Christian Syndrome Weber-Christian Panniculitis Panniculitis, Nodular Nonsuppurative Nodular Non-Suppurative Febrile Panniculitis Weber - Christian Disease Panniculitis Nodular Nonsuppurative Nodular Non-Suppurative Panniculitis Idiopathic Lobular Panniculitis Relapsing Febrile Nodular Panniculitis Wcd
Liver Lipoma	Hepatic Lipoma Lipoma Of The Liver
Chanarin-Dorfman Syndrome	Neutral Lipid Storage Disease CDS Neutral Lipid Storage Disease With Ichthyosis Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation Triglyceride Storage Disease With Ichthyosis Nlsdi Ichthyotic Neutral Lipid Storage Disease Dorfman-Chanarin Syndrome Dcs Chanarin-Dorfman Disease Ichthyosiform Erythroderma With Leukocyte Vacuolation Lipidosis With Triglyceride Storage Disease Disorder Of Cornification 12 Dorfman Chanarin Syndrome Neutral Lipid Storage Disease With Ichthyotic Dorfman-Chanarin Disease
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
Lysosomal Storage Disease	Lysosomal Storage Diseases Disorder Of Lysosomal Enzyme Inborn Lysosomal Enzyme Disorder Lysosomal Storage Metabolism Disorder Lysosomal Storage Disorder
Esophageal Varix	Esophageal Varices Bleeding Esophageal Varices Bleeding Oesophageal Varices Esophageal Varices In Disease Classified Elsewhere, With Bleeding Esophageal Varices With Bleeding Esophageal Varices With Bleeding In Disease Ec Esophageal Varices Without Bleeding Esophageal Varices Without Mention Of Bleeding
Hepatic Vascular Disease	Vascular Disorder Of Liver
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Diabetes Mellitus	Diabetes
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Cholangitis, Primary Sclerosing	Primary Sclerosing Cholangitis PSC Sclerosing Cholangitis Cholangitis, Sclerosing Cholangitis Primary Sclerosing Psc - [Primary Sclerosing Cholangitis]
Primary Biliary Cholangitis	Primary Biliary Cirrhosis Biliary Liver Cirrhosis Chronic Nonsuppurative Destructive Cholangitis Familial Primary Biliary Cirrhosis Pbc Hanot Syndrome Cholestatic Cirrhosis Biliary Cirrhosis Primary Liver Cirrhosis, Biliary Hanot'S Cirrhosis Biliary Cirrhosis Pericholangiolic Biliary Cirrhosis Tannhauser-Magendantz Syndrome Hanot-Rossle Syndrome Hypertrophic Cirrhosis Todd Cirrhosis Hanot Cirrhosis Charcot Cirrhosis Mahon-Tannhauser Syndrome Toxic Cirrhosis Hypertrophic Biliary Cirrhosis Monolobular Cirrhosis Unilobar Cirrhosis Xanthomatous Biliary Cirrhosis
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Phase
HY-163959	PF-07853578	Modulator	99.08%	Phase 1

Pre-clinical Phase

Bioactive Molecules (6)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-N1967	Dihydrocurcumin	Modulator	99.58%	Unkown
HY-177628	Edutirsen	Inhibitor	98.52%	Unkown
HY-RS10794	PNPLA3 Human Pre-designed siRNA Set A		/	Unkown
HY-173599	NUV-244	Inhibitor	/	Unkown
HY-177628A	Edutirsen sodium	Inhibitor	/	Unkown
HY-159656	PNPLA3 modifier 1	Modulator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PNPLA3	VGNC	VGNC:76061
Canis familiaris	PNPLA3	VGNC	VGNC:44754
Rattus norvegicus	PNPLA3	RGD	RGD:1595843
Mus musculus	PNPLA3	MGD	MGI:2151796
Others	PNPLA3	NCBI