PNPLA3

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PNPLA3
Identifiers
AliasesPNPLA3, ADPN, C22orf20, iPLA(2)epsilon, patatin like phospholipase domain containing 3
External IDsMGI: 2151796 HomoloGene: 11883 GeneCards: PNPLA3
Gene location (Human)
Chromosome 22 (human)
Chr.Chromosome 22 (human)[1]
Chromosome 22 (human)
Genomic location for PNPLA3
Genomic location for PNPLA3
Band22q13.31Start43,923,739 bp[1]
End43,964,488 bp[1]
RNA expression pattern
PBB GE PNPLA3 220675 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_025225

NM_054088

RefSeq (protein)

NP_079501

NP_473429

Location (UCSC)Chr 22: 43.92 – 43.96 MbChr 15: 84.17 – 84.19 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6][7]

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.[7]

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000100344 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000041653 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ 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 2674697Freely accessible. PMID 19029121. 
  7. ^ a b "Entrez Gene: PNPLA3 patatin-like phospholipase domain containing 3". 

Further reading[edit]