Type |
Details |
Score |
Strain |
Attribute String: |
coisogenic, mutant strain, endonuclease-mediated mutation |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
599
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
432
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
305
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
158
|
Fragment?: |
true |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
599
|
Fragment?: |
false |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
70
|
Fragment?: |
false |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
486
|
Fragment?: |
false |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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 |
|
•
•
•
•
•
|
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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