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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
a) triacylglycerol lipase
b) 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
General
acyltransferase
multifunctional enzyme
patatin-like phospholipase domain-containing protein (PNPLA)
triglyceride lipase
Properties
SIZE: entity length = 481 aa
MW = 53 kD
COMPARTMENT: cellular membrane
MOTIF: Patatin {10-179}
MOTIF: transmembrane domain {42-62}
GXSXG {45-49}
serine residue {S47}
N-glycosylation site {N89}
N-glycosylation site {N280}
Database Correlations
OMIM correlations
UniProt Q9NST1
Pfam PF01734
Entrez Gene 80339
Kegg hsa:80339
ENZYME 3.1.1.3
References
UniProt :accession Q9NST1