Type |
Details |
Score |
Protein Domain |
Type: |
Family |
Description: |
This family represents PNPLA3 (patatin-like phospholipase domain-containing protein 3) from mammals, also known as ADPN (adiponutrin) or iPLA2-epsilon (calcium-independent phospholipase A2). PNPLA3 is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes and is an indicator of the nutritional state. Human adiponutrins are bound to the cell membrane of adipocytes and show transacylase, TG hydrolase, and PLA2 activity [, , ]. In murine models, PNPLA3 was found to be involved in the hepatic metabolism of triglycerides and in the regulation of systemic glucose homeostasis []. |
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UniProt Feature |
Begin: |
1 |
Description: |
1-acylglycerol-3-phosphate O-acyltransferase Pnpla3 |
Type: |
chain |
End: |
413 |
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•
•
•
•
•
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Allele |
Name: |
patatin-like phospholipase domain containing 3; endonuclease-mediated mutation 1, Shanghai Model Organisms Center |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Not Specified |
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•
•
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Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
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•
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Publication |
First Author: |
Kienesberger PC |
Year: |
2009 |
Journal: |
J Lipid Res |
Title: |
Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions. |
Volume: |
50 Suppl |
|
Pages: |
S63-8 |
|
•
•
•
•
•
|
Publication |
First Author: |
Wilson PA |
Year: |
2006 |
Journal: |
J Lipid Res |
Title: |
Characterization of the human patatin-like phospholipase family. |
Volume: |
47 |
Issue: |
9 |
Pages: |
1940-9 |
|
•
•
•
•
•
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Publication |
First Author: |
Kabbani M |
Year: |
2022 |
Journal: |
Cell Rep |
Title: |
Human hepatocyte PNPLA3-148M exacerbates rapid non-alcoholic fatty liver disease development in chimeric mice. |
Volume: |
40 |
Issue: |
11 |
Pages: |
111321 |
|
•
•
•
•
•
|
Publication |
First Author: |
Xie M |
Year: |
2015 |
Journal: |
PLoS Genet |
Title: |
The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in C. elegans. |
Volume: |
11 |
Issue: |
6 |
Pages: |
e1005284 |
|
•
•
•
•
•
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Publication |
First Author: |
Narbonne P |
Year: |
2009 |
Journal: |
Nature |
Title: |
Caenorhabditis elegans dauers need LKB1/AMPK to ration lipid reserves and ensure long-term survival. |
Volume: |
457 |
Issue: |
7226 |
Pages: |
210-4 |
|
•
•
•
•
•
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Publication |
First Author: |
Zhang SO |
Year: |
2010 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Genetic and dietary regulation of lipid droplet expansion in Caenorhabditis elegans. |
Volume: |
107 |
Issue: |
10 |
Pages: |
4640-5 |
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•
•
•
•
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Publication |
First Author: |
Noble T |
Year: |
2013 |
Journal: |
Cell Metab |
Title: |
An integrated serotonin and octopamine neuronal circuit directs the release of an endocrine signal to control C. elegans body fat. |
Volume: |
18 |
Issue: |
5 |
Pages: |
672-84 |
|
•
•
•
•
•
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Publication |
First Author: |
Lee JH |
Year: |
2014 |
Journal: |
Mol Cell Biol |
Title: |
Lipid droplet protein LID-1 mediates ATGL-1-dependent lipolysis during fasting in Caenorhabditis elegans. |
Volume: |
34 |
Issue: |
22 |
Pages: |
4165-76 |
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•
•
•
•
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Publication |
First Author: |
Xie M |
Year: |
2015 |
Journal: |
PLoS One |
Title: |
AMP-Activated Kinase Regulates Lipid Droplet Localization and Stability of Adipose Triglyceride Lipase in C. elegans Dauer Larvae. |
Volume: |
10 |
Issue: |
6 |
Pages: |
e0130480 |
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Protein Domain |
Type: |
Family |
Description: |
This entry includes patatin-like phospholipase domain-containing proteins 1-5 (PNPLA1-5) from humans and Atgl-1 from Caenorhabditis elegans. They are a group of lipid hydrolases. Atgl-1 may play a role in the response of the organism to starvation, enhancing hydrolysis of triglycerides and providing free fatty acids to other tissues to be oxidized in situations of energy depletion [, , , , , ]. In humans PNPLA1 has a role in the formation of the epidermal lipid barrier; mutations in this gene are associated with the skin disorder known as ichthyosis []. PNPLA1 acts as an omega-hydroxyceramide transacylase involved in the synthesis of omega-O-acylceramides (esterified omega-hydroxyacyl-sphingosine; EOS), which are extremely hydrophobic lipids involved in skin barrier formation [, ]. It catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramid [].Human PNPLA2 catalyses the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets []. PNPLA3 has both triacylglycerol lipase and acylglycerol O-acyltransferase activities []. |
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Publication |
First Author: |
Saeed A |
Year: |
2020 |
Journal: |
Hum Mol Genet |
Title: |
Glycogen storage disease type 1a is associated with disturbed vitamin A metabolism and elevated serum retinol levels. |
Volume: |
29 |
Issue: |
2 |
Pages: |
264-273 |
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•
•
•
•
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Publication |
First Author: |
Das A |
Year: |
2024 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
The ubiquitin E3 ligase BFAR promotes degradation of PNPLA3. |
Volume: |
121 |
Issue: |
6 |
Pages: |
e2312291121 |
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•
•
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•
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Publication |
First Author: |
Kosters A |
Year: |
2013 |
Journal: |
PLoS One |
Title: |
Sexually dimorphic genome-wide binding of retinoid X receptor alpha (RXRα) determines male-female differences in the expression of hepatic lipid processing genes in mice. |
Volume: |
8 |
Issue: |
8 |
Pages: |
e71538 |
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•
•
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•
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Publication |
First Author: |
Matsuzaka T |
Year: |
2020 |
Journal: |
Hepatology |
Title: |
Hepatocyte ELOVL Fatty Acid Elongase 6 Determines Ceramide Acyl-Chain Length and Hepatic Insulin Sensitivity in Mice. |
Volume: |
71 |
Issue: |
5 |
Pages: |
1609-1625 |
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•
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Publication |
First Author: |
Zimmermann R |
Year: |
2004 |
Journal: |
Science |
Title: |
Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. |
Volume: |
306 |
Issue: |
5700 |
Pages: |
1383-6 |
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•
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Publication |
First Author: |
Grond S |
Year: |
2017 |
Journal: |
J Invest Dermatol |
Title: |
PNPLA1 Deficiency in Mice and Humans Leads to a Defect in the Synthesis of Omega-O-Acylceramides. |
Volume: |
137 |
Issue: |
2 |
Pages: |
394-402 |
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•
•
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•
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Publication |
First Author: |
Grall A |
Year: |
2012 |
Journal: |
Nat Genet |
Title: |
PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. |
Volume: |
44 |
Issue: |
2 |
Pages: |
140-7 |
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•
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Publication |
First Author: |
Ohno Y |
Year: |
2017 |
Journal: |
Nat Commun |
Title: |
PNPLA1 is a transacylase essential for the generation of the skin barrier lipid ω-O-acylceramide. |
Volume: |
8 |
|
Pages: |
14610 |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
599
 |
Fragment?: |
false |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
432
 |
Fragment?: |
false |
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•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
305
 |
Fragment?: |
true |
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•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
158
 |
Fragment?: |
true |
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•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
599
 |
Fragment?: |
false |
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•
•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
70
 |
Fragment?: |
false |
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•
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Publication |
First Author: |
Jenkins CM |
Year: |
2004 |
Journal: |
J Biol Chem |
Title: |
Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities. |
Volume: |
279 |
Issue: |
47 |
Pages: |
48968-75 |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
486
 |
Fragment?: |
false |
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•
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•
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Publication |
First Author: |
Gerhard DS |
Year: |
2004 |
Journal: |
Genome Res |
Title: |
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |
Volume: |
14 |
Issue: |
10B |
Pages: |
2121-7 |
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•
•
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•
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Publication |
First Author: |
Huttlin EL |
Year: |
2010 |
Journal: |
Cell |
Title: |
A tissue-specific atlas of mouse protein phosphorylation and expression. |
Volume: |
143 |
Issue: |
7 |
Pages: |
1174-89 |
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•
•
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•
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Publication |
First Author: |
Church DM |
Year: |
2009 |
Journal: |
PLoS Biol |
Title: |
Lineage-specific biology revealed by a finished genome assembly of the mouse. |
Volume: |
7 |
Issue: |
5 |
Pages: |
e1000112 |
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