PNPLA3

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Patatin-like phospholipase domain containing 3
Identifiers
Symbols PNPLA3 ; ADPN; C22orf20; iPLA(2)epsilon
External IDs OMIM609567 MGI2151796 HomoloGene11883 GeneCards: PNPLA3 Gene
EC number 3.1.1.3
RNA expression pattern
PBB GE PNPLA3 220675 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 80339 116939
Ensembl ENSG00000100344 ENSMUSG00000041653
UniProt Q9NST1 Q91WW7
RefSeq (mRNA) NM_025225 NM_054088
RefSeq (protein) NP_079501 NP_473429
Location (UCSC) Chr 22:
44.32 – 44.36 Mb
Chr 15:
84.17 – 84.19 Mb
PubMed search [1] [2]

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.[1][2][3]

Function[edit]

Adiponutrin is 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[edit]

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 length.

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[edit]

The recommended 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 significance - if any - of these forms is not known.

Clinical relevance[edit]

An association between alcoholic liver disease in caucasians and variations in this gene has been confirmed. Gut 2012;61:150-159 doi:10.1136/gutjnl-2011-301239, Genetic determinants of alcoholic liver disease, Felix Stickel,Jochen Hampe.

References[edit]

  1. ^ Wilson PA, Gardner SD, Lambie NM, Commans SA, Crowther DJ (Aug 2006). "Characterization of the human patatin-like phospholipase family". J Lipid Res 47 (9): 1940–9. doi:10.1194/jlr.M600185-JLR200. PMID 16799181. 
  2. ^ Kienesberger PC, Oberer M, Lass A, Zechner R (Apr 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. 
  3. ^ a b "Entrez Gene: PNPLA3 patatin-like phospholipase domain containing 3". 

Further reading[edit]