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 = Journal of Lipid Research | volume = 47 | issue = 9 | pages = 1940–9 | date = 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 = Journal of Lipid Research | volume = 50 Suppl | issue = | pages = S63-8 | date = April 2009 | issue = Suppl | 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 = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=80339| access-date = }}</ref>

Upstream of the gene, putative 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.

An association between alcoholic liver disease in [[Caucasian race|caucasian]]s and variations in this gene has been confirmed.<ref name="pmid22110053">{{cite journal | vauthors = Stickel F, Hampe J | title = Genetic determinants of alcoholic liver disease | journal = Gut | volume = 61 | issue = 1 | pages = 150–9 | date = January 2012 | pmid = 22110053 | doi = 10.1136/gutjnl-2011-301239 | s2cid = 22559086 }}</ref> A mutation of isoleucine to methionine (I[ATC]>M[ATG]) SNP rs738409 has been confirmed to increase susceptibility to non-alcoholic liver disease and also to have effects in diabetes.<ref name="pmid29935383">{{cite journal | vauthors = Pingitore P, Romeo S | title = The role of PNPLA3 in health and disease | journal = Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids | volume = 1864 | issue = 6 | pages = 900–906 | date = June 2019 | pmid = 29935383 | doi = 10.1016/j.bbalip.2018.06.018 | s2cid = 49392249 }}</ref>

* {{cite journal | vauthors = Dunham I, Shimizu N, Roe BA, Chissoe 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 | date = December 1999 | pmid = 10591208 | doi = 10.1038/990031 | bibcode = 1999Natur.402..489D | doi-access = free }}

* {{cite journal | vauthors = Liu YM, Moldes M, Bastard JP, Bruckert E, Viguerie N, Hainque B, Basdevant A, Langin D, Pairault J, Clément K | title = Adiponutrin: A new gene regulated by energy balance in human adipose tissue | journal = The Journal of Clinical Endocrinology and Metabolism | volume = 89 | issue = 6 | pages = 2684–9 | date = June 2004 | pmid = 15181042 | doi = 10.1210/jc.2003-031978 | doi-access = free }}

* {{cite journal | vauthors = Jenkins CM, Mancuso DJ, Yan W, Sims HF, Gibson B, Gross RW | title = Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities | journal = The Journal of Biological Chemistry | volume = 279 | issue = 47 | pages = 48968–75 | date = November 2004 | pmid = 15364929 | doi = 10.1074/jbc.M407841200 | doi-access = free }}

* {{cite journal | vauthors = Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, Goward ME, Aguado B, Mallya M, Mokrab Y, Huckle EJ, Beare DM, Dunham I | title = A genome annotation-driven approach to cloning the human ORFeome | journal = Genome Biology | volume = 5 | issue = 10 | pages = R84 | year = 2005 | pmid = 15461802 | pmc = 545604 | doi = 10.1186/gb-2004-5-10-r84 | doi-access = free }}

* {{cite journal | vauthors = Lake AC, Sun Y, Li JL, Kim JE, Johnson JW, Li D, Revett T, Shih HH, Liu W, Paulsen JE, Gimeno RE | title = Expression, regulation, and triglyceride hydrolase activity of Adiponutrin family members | journal = Journal of Lipid Research | volume = 46 | issue = 11 | pages = 2477–87 | date = November 2005 | pmid = 16150821 | doi = 10.1194/jlr.M500290-JLR200 | doi-access = free }}

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