Template:PBB Patatin-like phospholipase domain-containing protein 3 (PNPLA3) also knows as adiponutrin (ADPN), acylglycerol O-acyltransferase or calcium-independent phospholipase A2-epsilon (iPLA2-epsilon) is an enzyme that in humans is encoded by the PNPLA3 gene.[1][2][3]
Function
Adiponutrin 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.[3]
Genomics
The gene is located on the long arm of chromosome 22 at band 13.31 (22q13.31). It lies on the Watson (plus) strand and is 40,750 bases in lengh.
Upstream of the gene putaive binding sites for several transcription factors have been identified. These include PPAR-gamma, POU2F1, and POU2F2. If any of these transcriptions factors are actually involved in the regulation of this gene is not known at present.
Biochemistry
The recmmended name for the gene product is patatin-like phospholipase domain-containing protein 3. It is a Single-pass type II membrane protein and is a multifunctional enzyme with both triacylglycerol lipase and acylglycerol O-acyltransferase activities. It is involved in the triacylglycerol hydrolysis in adipocytes and may play a role in energy metabolism.
The mature protein is 481 amino acids in length and the predicted molecular weight is 52.865 kiloDaltons (kDa). Two the isoforms have been described but the functional signifcance - if any - of these forms is not known.
Clinical relevence
An association between alcoholic liver disease in caucasians and variations in this gene has been reported.[4]
References
- ^ Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ (2006). "Characterization of the human patatin-like phospholipase family". J Lipid Res. 47 (9): 1940–9. doi:10.1194/jlr.M600185-JLR200. PMID 16799181.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ Kienesberger PC, Oberer M, Lass A, Zechner R (2009). "Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions". J Lipid Res. 50 Suppl: S63–8. doi:10.1194/jlr.R800082-JLR200. PMC 2674697. PMID 19029121.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - ^ a b "Entrez Gene: PNPLA3 patatin-like phospholipase domain containing 3".
- ^ Stickel F, Buch S, Lau K, Zu Schwabedissen HM, Berg T, Ridinger M, Rietschel M, Schafmayer C, Braun F, Hinrichsen H, Günther R, Arlt A, Seeger M, Müller S, Seitz HK, Soyka M, Lerch M, Lammert F, Sarrazin C, Kubitz R, Häussinger D, Hellerbrand C, Bröring D, Schreiber S, Kiefer F, Spanagel R, Mann K, Datz C, Krawczak M, Wodarz N, Völzke H, Hampe J (2010). "Genetic variation in the PNPLA3 gene is associated with alcoholic liver injury in caucasians". Hepatology. doi:10.1002/hep.24017. PMID 21140471.
{{cite journal}}: Unknown parameter|month=ignored (help)CS1 maint: multiple names: authors list (link)
Further reading
- Dunham I, Shimizu N, Roe BA; et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Collins JE, Goward ME, Cole CG; et al. (2003). "Reevaluating human gene annotation: a second-generation analysis of chromosome 22". Genome Res. 13 (1): 27–36. doi:10.1101/gr.695703. PMC 430954. PMID 12529303.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Liu YM, Moldes M, Bastard JP; et al. (2004). "Adiponutrin: A new gene regulated by energy balance in human adipose tissue". J. Clin. Endocrinol. Metab. 89 (6): 2684–9. doi:10.1210/jc.2003-031978. PMID 15181042.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Jenkins CM, Mancuso DJ, Yan W; et al. (2005). "Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities". J. Biol. Chem. 279 (47): 48968–75. doi:10.1074/jbc.M407841200. PMID 15364929.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - Collins JE, Wright CL, Edwards CA; et al. (2005). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biol. 5 (10): R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link) - Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) - Lake AC, Sun Y, Li JL; et al. (2006). "Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members". J. Lipid Res. 46 (11): 2477–87. doi:10.1194/jlr.M500290-JLR200. PMID 16150821.
{{cite journal}}: Explicit use of et al. in:|author=(help)CS1 maint: multiple names: authors list (link) CS1 maint: unflagged free DOI (link)
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