PNPLA3 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | PNPLA3 |
| Official Name | patatin like phospholipase domain containing 3 [Source:HGNC Symbol;Acc:HGNC:18590] |
| Ensembl ID | ENSG00000100344 |
| Bio databases IDs | |
| Aliases | patatin like phospholipase domain containing 3 |
| Synonyms | Adiponutrin, ADPN, C22orf20, iPLA(2)epsilon, iPLA2-epsilon, iPLA(2)ε, iPLA2-ε, patatin-like phospholipase domain containing 3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PNPLA3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- acylglycerol O-acyltransferase
- Patatins and Phospholipases
- phospholipid binding
- lysophosphatidic acid acyltransferase
- binding protein
- 1-acylglycerol-3-phosphate O-acyltransferase
- acyl-CoA binding
- enzyme
- lipoprotein lipase
- phospholipase A2
- triacylglycerol lipase
Pathways
Biological processes and signaling networks where the PNPLA3 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatocellular carcinoma
- epithelial cancer
- liver neoplasia
- liver cancer
- liver neoplasm
- non-insulin-dependent diabetes mellitus
- gout
- hepatic abscess
- nonalcoholic steatohepatitis
- secondary thrombocytopenia
role in cell
- expression in
- production in
- morphology
- organization
- enrichment in
- turnover in
- oxygen consumption rate
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- cell periphery
- cellular membrane
- Endoplasmic Reticulum
- lipid droplets
- cytosol
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PNPLA3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- acylglycerol acyl-chain remodeling
- triglyceride acyl-chain remodeling
- lipid homeostasis
- glycerophospholipid metabolic process
- response to sucrose stimulus
- phosphatidic acid biosynthetic process
- cellular response to insulin stimulus
- white fat cell differentiation
- long-chain fatty acid metabolic process
- triglyceride biosynthetic process
- lipid particle organization
- triglyceride catabolic process
Cellular Component
Where in the cell the gene product is active
- lipid particle
- endoplasmic reticulum membrane
- cytoplasm
- membrane
Molecular Function
What the gene product does at the molecular level
- 1-acylglycerol-3-phosphate O-acyltransferase activity
- phospholipase A2 activity
- lysophosphatidic acid acyltransferase activity
- lysophosphatidic acid binding
- mono-olein transacylation activity
- long-chain fatty acyl-CoA binding
- diolein transacylation activity
- triglyceride lipase activity
- lipoprotein lipase activity
- acylglycerol O-acyltransferase activity