Entity Details

Primary name PNPLA3
Entity type gene
Source Source Link

Details

PrimaryID80339
RefseqGeneNG_008631
SymbolPNPLA3
Namepatatin like phospholipase domain containing 3
Chromosome22
Location22q13.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-05-27
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsPLPL3_HUMAN

GO terms

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GOName
GO:0001676 long-chain fatty acid metabolic process
GO:0003841 1-acylglycerol-3-phosphate O-acyltransferase activity
GO:0004623 phospholipase A2 activity
GO:0004806 triglyceride lipase activity
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005811 lipid droplet
GO:0006650 glycerophospholipid metabolic process
GO:0006654 phosphatidic acid biosynthetic process
GO:0009744 response to sucrose
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0019432 triglyceride biosynthetic process
GO:0019433 triglyceride catabolic process
GO:0032869 cellular response to insulin stimulus
GO:0034389 lipid droplet organization
GO:0035727 lysophosphatidic acid binding
GO:0036042 long-chain fatty acyl-CoA binding
GO:0036153 triglyceride acyl-chain remodeling
GO:0036155 acylglycerol acyl-chain remodeling
GO:0042171 lysophosphatidic acid acyltransferase activity
GO:0050872 white fat cell differentiation
GO:0051264 mono-olein transacylation activity
GO:0051265 diolein transacylation activity
GO:0055088 lipid homeostasis
GO:1905243 cellular response to 3,3',5-triiodo-L-thyronine

Diseases

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Disease IDSourceNameDescription
613282 OMIMNon-alcoholic fatty liver disease 1 (NAFLD1)A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
PNPLA3AKT2BioGRID, IntAct21988832 details
PNPLA3SNX27BioGRID, IntAct21988832 details
PNPLA3PEX14BioGRID, IntAct26186194 28514442 details
PNPLA3SLC27A2BioGRID, IntAct26186194 28514442 details
PNPLA3AHNAKBioGRID, IntAct30021884 details
PNPLA3HNRNPH1BioGRID26760575 details