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PNPLA3
HPA
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  • PNPLA3
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PNPLA3
Synonyms adiponutrin, ADPN, C22orf20, dJ796I17.1, FLJ22012, iPLA2epsilon
Gene descriptioni

Full gene name according to HGNC.

Patatin like phospholipase domain containing 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 22
Cytoband q13.31
Chromosome location (bp) 43923792 - 43964488
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

2
Ensembl ENSG00000100344 (version 109)
Entrez gene 80339
HGNC HGNC:18590
UniProt Q9NST1 (UniProt - Evidence at protein level)
neXtProt NX_Q9NST1
GeneCards PNPLA3
Antibodypedia PNPLA3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA 1. Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides 2, 3, 4. In vitro may express hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety 5. However, the triacylglycerol hydrolase activity is controversial and may be very low 6. Possesses phospholipase A2 activity 7.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Acyltransferase, Hydrolase, Transferase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PNPLA3-201
ENSP00000216180
ENST00000216180
Q9NST1
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3
Show all
Enzymes
   ENZYME proteins
   Transferases
   Hydrolases
Metabolic proteins
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Digestive system diseases
   Liver diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001676 [long-chain fatty acid metabolic process]
GO:0003824 [catalytic activity]
GO:0003841 [1-acylglycerol-3-phosphate O-acyltransferase activity]
GO:0004465 [lipoprotein lipase activity]
GO:0004623 [phospholipase A2 activity]
GO:0004806 [triglyceride lipase activity]
GO:0005737 [cytoplasm]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0006629 [lipid metabolic process]
GO:0006650 [glycerophospholipid metabolic process]
GO:0006654 [phosphatidic acid biosynthetic process]
GO:0008654 [phospholipid biosynthetic process]
GO:0009744 [response to sucrose]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016411 [acylglycerol O-acyltransferase activity]
GO:0016740 [transferase activity]
GO:0016746 [acyltransferase activity]
GO:0016787 [hydrolase activity]
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]
Show all
481 aa
52.9 kDa
No 0
PNPLA3-203
ENSP00000397987
ENST00000423180
Q9NST1
[Direct mapping] 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3
Show all
Enzymes
   ENZYME proteins
   Transferases
   Hydrolases
Metabolic proteins
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Digestive system diseases
   Liver diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001676 [long-chain fatty acid metabolic process]
GO:0003824 [catalytic activity]
GO:0003841 [1-acylglycerol-3-phosphate O-acyltransferase activity]
GO:0004465 [lipoprotein lipase activity]
GO:0004623 [phospholipase A2 activity]
GO:0004806 [triglyceride lipase activity]
GO:0005737 [cytoplasm]
GO:0005789 [endoplasmic reticulum membrane]
GO:0005811 [lipid droplet]
GO:0006629 [lipid metabolic process]
GO:0006650 [glycerophospholipid metabolic process]
GO:0006654 [phosphatidic acid biosynthetic process]
GO:0008654 [phospholipid biosynthetic process]
GO:0016020 [membrane]
GO:0016042 [lipid catabolic process]
GO:0016411 [acylglycerol O-acyltransferase activity]
GO:0016740 [transferase activity]
GO:0016746 [acyltransferase activity]
GO:0016787 [hydrolase activity]
GO:0019432 [triglyceride biosynthetic process]
GO:0019433 [triglyceride catabolic process]
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:0051264 [mono-olein transacylation activity]
GO:0051265 [diolein transacylation activity]
GO:0055088 [lipid homeostasis]
Show all
477 aa
52.5 kDa
No 0

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