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PNPLA2 the rate-limiting lipolytic enzyme in mammals, flies, and yeast. Catalyzes the initial step in triglyceride hydrolysis in adipocyte and non-adipocyte lipid droplets. Upregulated by exercise training in human skeletal muscle. Has acylglycerol transacylase activity. May act coordinately with HSL within the lipolytic cascade. Regulates adiposome size and may be involved in the degradation of adiposomes. May play an important role in energy homeostasis. 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. Interacting with ABHD5 stimulates its triglyceride hydrolase activity. Despite a colocalization in lipid droplets, it probably does not interact with perilipin. Transcriptionally regulated by FOXO1A. Defects cause neutral lipid storage disease (NLSD), an autosomal recessive disorder characterized by the excessive accumulation of neutral lipids in multiple tissues. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC; Lipase; Membrane protein, integral
Chromosomal Location of Human Ortholog: 11p15.5
Cellular Component: cytoplasm; endoplasmic reticulum lumen; endoplasmic reticulum membrane; lipid particle; membrane; nucleoplasm
Molecular Function: acylglycerol O-acyltransferase activity; lipoprotein lipase activity; triacylglycerol lipase activity
Biological Process: cellular protein metabolic process; lipid homeostasis; post-translational protein modification
Disease: Neutral Lipid Storage Disease With Myopathy
Reference #:  Q96AD5 (UniProtKB)
Alt. Names/Synonyms: 1110001C14Rik; Adipose triglyceride lipase; ATGL; Calcium-independent phospholipase A2; Desnutrin; DKFZp667M109; FP17548; IPLA2-zeta; patatin-like phospholipase domain containing 2; Patatin-like phospholipase domain-containing protein 2; PEDF-R; Pigment epithelium-derived factor; PLPL2; PNPLA2; Transport-secretion protein 2; transport-secretion protein 2.2; triglyceride hydrolase; TTS-2.2; TTS2; TTS2.2
Gene Symbols: PNPLA2
Molecular weight: 55,316 Da
Basal Isoelectric point: 6.65  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

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