PNPLA3 - patatin like phospholipase domain containing 3 Gene

Homo sapiens

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

Gene ID: 80339 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N1967	Dihydrocurcumin	Inhibitor	99.77%	Unkown
HY-163959	PNPLA3 degrader-1		/	Unkown
HY-RS10794	PNPLA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-159656	PNPLA3 modifier 1		/	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

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