PNPLA3
entrez
80339
canonical
uniprot
Q9NST1
canonical
ensembl
ENSG00000100344
resolver
ensp
ENSP00000216180
resolver
genesymbol
PNPLA3
resolver
genesymbol_syn
ADPN
resolver
genesymbol_syn
C22orf20
resolver
hgnc
HGNC:18590
resolver
uniprot
B0QYI0
resolver
uniprot
B2RCL3
resolver
uniprot
B3KW00
resolver
uniprot
Q6P1A1
resolver
uniprot
Q96CB4
resolver
uniprot_entry
PLPL3_HUMAN
resolver
uniprot_sec
B0QYI0
resolver
uniprot_sec
B2RCL3
resolver
uniprot_sec
B3KW00
resolver
uniprot_sec
Q6P1A1
resolver
uniprot_sec
Q96CB4
resolver
activity_regulation
ACTIVITY REGULATION: The triglyceride lipase activity is inhibited by BEL ((E)-6-(bromomethylene)-3-(1-naphthalenyl)-2H-tetrahydropyran-2-one), a suicide substrate inhibitor. {ECO:0000269|PubMed:15364929}.
uniprot
proteins
amino_acid_sequence
MYDAERGWSLSFAGCGFLGFYHVGATRCLSEHAPHLLRDARMLFGASAGALHCVGVLSGIPLEQTLQVLSDLVRKARSRNIGIFHPSFNLSKFLRQGLCKCLPANVHQLISGKIGISLTRVSDGENVLVSDFRSKDEVVDALVCSCFIPFYSGLIPPSFRGVRYVDGGVSDNVPFIDAKTTITVSPFYGEYDICPKVKSTNFLHVDITKLSLRLCTGNLYLLSRAFVPPDLKVLGEICLRGYLDAFRFLEEKGICNRPQPGLKSSSEGMDPEVAMPSWANMSLDSSPESAALAVRLEGDELLDHLRLSILPWDESILDTLSPRLATALSEEMKDKGGYMSKICNLLPIRIMSYVMLPCTLPVESAIAIVQRLVTWLPDMPDDVLWLQWVTSQVFTRVLMCLLPASRSQMPVSSQQASPCTPEQDWPCWTPCSPKGCPAETKAEATPRSILRSSLNFFLGNKVPAGAEGLSTFPSFSLEKSL
uniprot
proteins
disease_involvement
DISEASE: Non-alcoholic fatty liver disease 1 (NAFLD1) [MIM:613282]: A condition characterized by accumulation of triglycerides in the liver. It is associated with adverse metabolic consequences, including insulin resistance and dyslipidemia. In a subset of individuals, hepatic steatosis promotes an inflammatory response in the liver, referred to as steatohepatitis, which can progress to cirrhosis and liver cancer. NAFLD is the most common form of liver disease in Western countries. {ECO:0000269|PubMed:18820647, ECO:0000269|PubMed:19224197, ECO:0000269|PubMed:19738004, ECO:0000269|PubMed:27288299}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.51
uniprot
proteins
ec_number
3.1.1.3
uniprot
proteins
ec_number
3.1.1.4
uniprot
proteins
function
FUNCTION: Specifically catalyzes coenzyme A (CoA)-dependent acylation of 1-acyl-sn-glycerol 3-phosphate (2-lysophosphatidic acid/LPA) to generate phosphatidic acid (PA), an important metabolic intermediate and precursor for both triglycerides and glycerophospholipids. Does not esterify other lysophospholipids. Acyl donors are long chain (at least C16) fatty acyl-CoAs: arachidonoyl-CoA, linoleoyl-CoA, oleoyl-CoA and at a lesser extent palmitoyl-CoA (PubMed:22560221). Additionally possesses low triacylglycerol lipase and CoA-independent acylglycerol transacylase activities and thus may play a role in acyl-chain remodeling of triglycerides (PubMed:15364929, PubMed:20034933, PubMed:22560221). In vitro may express hydrolytic activity against glycerolipids triacylglycerol, diacylglycerol and monoacylglycerol, with a strong preference for oleic acid as the acyl moiety (PubMed:21878620). However, the triacylglycerol hydrolase activity is controversial and may be very low (PubMed:22560221). Possesses phospholipase A2 activity (PubMed:15364929). {ECO:0000269|PubMed:15364929, ECO:0000269|PubMed:20034933, ECO:0000269|PubMed:21878620, ECO:0000269|PubMed:22560221}.
uniprot
proteins
mass_dalton
52865
uniprot
proteins
mutagenesis
MUTAGEN 15; /note="C->S: 65% loss of 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity."; /evidence="ECO:0000269|PubMed:22560221"; MUTAGEN 47; /note="S->A: No effect on 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity. Almost completely abolishes triacylglycerol, diacylglycerol and monoacylglycerol hydrolase activity."; /evidence="ECO:0000269|PubMed:21878620, ECO:0000269|PubMed:22560221"; MUTAGEN 206; /note="D->A: No effect on 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity."; /evidence="ECO:0000269|PubMed:22560221"; MUTAGEN 311; /note="P->G: 67% loss of 1-acylglycerol-3-phosphate O-acyltransferase catalytic activity."; /evidence="ECO:0000269|PubMed:22560221
uniprot
proteins
pathway_participation
PATHWAY: Phospholipid metabolism. {ECO:0000269|PubMed:22560221}.; PATHWAY: Glycerolipid metabolism. {ECO:0000269|PubMed:15364929, ECO:0000269|PubMed:20034933, ECO:0000269|PubMed:22560221}.
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12529303
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15181042
uniprot
proteins
pubmed
15364929
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18728122
uniprot
proteins
pubmed
18820647
uniprot
proteins
pubmed
19224197
uniprot
proteins
pubmed
19738004
uniprot
proteins
pubmed
20034933
uniprot
proteins
pubmed
21878620
uniprot
proteins
pubmed
22560221
uniprot
proteins
pubmed
27288299
uniprot
proteins
sequence_length
481
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15364929, ECO:0000269|PubMed:22560221}; Single-pass type II membrane protein {ECO:0000269|PubMed:15364929}. Lipid droplet {ECO:0000269|PubMed:20034933, ECO:0000269|PubMed:22560221}.
uniprot
proteins
transmembrane_region
TRANSMEM 42..62; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins