Patatin-like phospholipase domain-containing protein
IPR033562
Definition
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 [[cite:PMID:19052547], [cite:PMID:20176933], [cite:PMID:24120942], [cite:PMID:25202121], [cite:PMID:26083785], [cite:PMID:26098762]]. 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 PMID:22246504. 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 [[cite:PMID:27751867], [cite:PMID:28248318]]. It catalyzes the last step of the synthesis of omega-O-acylceramides by transferring linoleic acid from triglycerides to an omega-hydroxyceramid PMID:28248318. Human PNPLA2 catalyses the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets PMID:15550674. PNPLA3 has both triacylglycerol lipase and acylglycerol O-acyltransferase activities PMID:15364929. PNPLA4 additionally possesses acylglycerol transacylase and phospholipase A2 activities [[cite:PMID:15364929], [cite:PMID:17603008]].
5 human proteins with this domain
Each is a reviewed human protein in the Seroatlas serome and a potential autoantibody target; this domain groups them into one antibody-relevant category. Every entry links to its own record.
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