InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PNPLA3

Summary

InnateDB Protein

IDBP-10821.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PNPLA3

Protein Name

patatin-like phospholipase domain containing 3

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000216180

InnateDB Gene

IDBG-10819 (PNPLA3)

Protein Structure

UniProt Annotation

Function

Multifunctional enzyme which has both triacylglycerol lipase and acylglycerol O-acyltransferase activities. {ECO:0000269PubMed:15364929}.

Subcellular Localization

Membrane {ECO:0000269PubMed:15364929}; Single-pass type II membrane protein {ECO:0000269PubMed:15364929}.

Disease Associations

Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]: 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. {ECO:0000269PubMed:18820647, ECO:0000269PubMed:19224197, ECO:0000269PubMed:19738004}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004623	phospholipase A2 activity
GO:0004806	triglyceride lipase activity
GO:0051264	mono-olein transacylation activity
GO:0051265	diolein transacylation activity

Biological Process

GO:0006629	lipid metabolic process
GO:0006644	phospholipid metabolic process
GO:0008152	metabolic process
GO:0019432	triglyceride biosynthetic process
GO:0019433	triglyceride catabolic process
GO:0036155	acylglycerol acyl-chain remodeling
GO:0044281	small molecule metabolic process
GO:0046474	glycerophospholipid biosynthetic process