patatin-like phospholipase domain-containing protein 3; acylglycerol O-acyltransferase; adiponutrin; Ca+2-independent phospholipase A2-epsilon; iPLA2-epsilon (PNPLA3, ADPN, C22orf20)

Function

• multifunctional enzyme
  • triacylglycerol lipase
  • acylglycerol O-acyltransferase activities
• glycerolipid metabolism; triacylglycerol degradation

Structure

contains 1 patatin domain

Compartment

• membrane
• single-pass type 2 membrane protein

Alternative splicing

named isoforms=2

Expression

• induced by changes in energy balance
  • down-regulated following very low-calorie diet
  • refeeding elevates the mRNA level

Pathology

• genetic variations in PNPLA3 are a cause of susceptibility to non-alcoholic fatty liver disease type 1

Polymorphism

• polymorphic variation at position 148 influences insulin secretion & obesity
• in obese subjects, body mass index & waist circumference are higher in carriers of the Ile-148 allele
• the Ile-148 carriers also display decreased insulin secretion in response to oral glucose tolerance test
• Met-148 allele carriers are seemingly more insulin resistant at a lower body mass index

More general terms

• triglyceride lipase
• acyltransferase
• multifunctional enzyme
• patatin-like phospholipase domain-containing protein (PNPLA)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=80339
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:80339
• OMIM: https://mirror.omim.org/entry/609567
• OMIM: https://mirror.omim.org/entry/613282
• UniProt: http://www.uniprot.org/uniprot/Q9NST1.html