PNPLA3: Difference between revisions

'''Patatin-like phospholipase domain-containing protein 3''' (PNPLA3), also known 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]].<ref name="pmid16799181">{{cite journal | vauthors = Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ | title = Characterization of the human patatin-like phospholipase family | journal = JJournal of Lipid ResResearch | volume = 47 | issue = 9 | pages = 1940–9 | date =Aug September 2006 | pmid = 16799181 | pmc = | doi = 10.1194/jlr.M600185-JLR200 | doi-access = free }}</ref><ref name="pmid19029121">{{cite journal | vauthors = Kienesberger PC, Oberer M, Lass A, Zechner R | title = Mammalian patatin domain containing proteins: a family with diverse lipolytic activities involved in multiple biological functions | journal = JJournal of Lipid ResResearch | volume = 50 Suppl | issuepages = S63-8 | pagesdate = S63–8April 2009 |date issue =Apr 2009Suppl | pmid = 19029121 | pmc = 2674697 | doi = 10.1194/jlr.R800082-JLR200 |doi-access=free }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: PNPLA3 patatin-like phospholipase domain containing 3| url = httphttps://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80339| accessdate = }}</ref>

Upstream of the gene, putaiveputative binding sites for several transcription factors have been identified. These include [[PPAR-gamma]], [[POU2F1]], and [[Oct-2|POU2F2]]. IfIt is not known at present whether any of these transcriptions factors are actually involved in the regulation of this gene is not known at present.

The recommended name for the gene product is ''patatin-like phospholipase domain-containing protein 3''. It is a Singlesingle-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 kiloDaltonskilodaltons (kDa). Two of the isoforms have been described, but the functional significance - (if any -) of these forms is not known.

== References ==

== Further reading ==

* {{cite journal | vauthors = Dunham I, Shimizu N, Roe BA, etalChissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP | title = The DNA sequence of human chromosome 22 | journal = Nature | volume = 402 | issue = 6761 | pages = 489–95 |year date = December 1999 | pmid = 10591208 | doi = 10.1038/990031 | bibcode = 1999Natur.402..489D | doi-access = free }}

* {{cite journal | vauthors =Strausberg RLCollins JE, FeingoldGoward EAME, GrouseCole LHCG, etalSmink |title=GenerationLJ, andHuckle initialEJ, analysisKnowles ofS, moreBye thanJM, 15Beare DM,000 full-lengthDunham I | title = Reevaluating human andgene mouseannotation: cDNAa sequencessecond-generation analysis of chromosome 22 | journal =Proc. Natl.Genome Acad.Research Sci.| U.S.A. |volume =99 13 | issue = 261 | pages = 16899–90327–36 |year date = January 2003 | pmid = 1247793212529303 | pmc = 430954 | doi = 10.10731101/pnasgr.242603899 | pmc=139241695703 }}

* {{cite journal | vauthors =Collins JELiu YM, GowardMoldes MEM, ColeBastard CGJP, etalBruckert E, Viguerie N, Hainque B, Basdevant A, Langin D, Pairault J, Clément K | title =Reevaluating humanAdiponutrin: A new gene annotation:regulated aby second-generationenergy analysisbalance ofin chromosomehuman 22adipose tissue | journal =Genome Res.The Journal of Clinical Endocrinology and Metabolism | volume =13 89 | issue = 16 | pages = 27–362684–9 |year date = 2003June 2004 | pmid = 1252930315181042 | doi = 10.11011210/grjc.695703 2003-031978 | pmcdoi-access =430954 free }}

* {{cite journal | vauthors =Liu YMJenkins CM, MoldesMancuso MDJ, BastardYan JPW, etalSims HF, Gibson B, Gross RW | title =Adiponutrin: AIdentification, newcloning, geneexpression, regulatedand bypurification energyof balancethree innovel human adiposecalcium-independent tissuephospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities | journal =J. Clin.The Endocrinol.Journal Metab.of Biological Chemistry | volume =89 279 | issue = 647 | pages = 2684–948968–75 |year date = November 2004 | pmid = 1518104215364929 | doi = 10.12101074/jcjbc.2003M407841200 | doi-031978access = free }}

* {{cite journal | vauthors =Jenkins CMCollins JE, MancusoWright DJCL, YanEdwards WCA, etalDavis |title=IdentificationMP, cloningGrinham JA, expressionCole CG, andGoward purificationME, ofAguado threeB, novelMallya humanM, calcium-independentMokrab phospholipaseY, A2Huckle familyEJ, membersBeare possessingDM, triacylglycerolDunham lipaseI and| acylglyceroltitle transacylase= activitiesA genome annotation-driven approach to cloning the human ORFeome | journal =J. Biol.Genome Chem.Biology | volume =279 5 | issue = 4710 | pages = 48968–75R84 | year = 2005 | pmid = 1536492915461802 | pmc = 545604 | doi = 10.10741186/jbc.M407841200gb-2004-5-10-r84 | doi-access = free }}

* {{cite journal | vauthors =Collins Lake AC, Sun Y, Li JL, Kim JE, WrightJohnson CLJW, EdwardsLi CAD, etalRevett T, Shih HH, Liu W, Paulsen JE, Gimeno RE | title =A genomeExpression, annotation-drivenregulation, approachand totriglyceride cloninghydrolase theactivity humanof ORFeomeAdiponutrin family members | journal =Genome Biol.Journal of Lipid Research | volume =5 46 | issue = 1011 | pages = R842477–87 |year date = November 2005 | pmid = 1546180216150821 | doi = 10.11861194/gb-2004jlr.M500290-5-10-r84 JLR200 | pmcdoi-access =545604 free }}

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