MGP Database

MGP001824

UniProt Annotations

Entry Information
Gene Namelipase, hepatic
Protein EntryLIPC_HUMAN
UniProt IDP11150
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityTriacylglycerol + H(2)O = diacylglycerol + a carboxylate.
DiseaseHepatic lipase deficiency (HL deficiency) [MIM:614025]: A disorder characterized by elevated levels of beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins. {ECO:0000269|PubMed:10660332, ECO:0000269|PubMed:1301939}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionHepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin.
PolymorphismGenetic variations in LIPC are associated with non- insulin-dependent diabetes mellitus susceptibility (NIDDM susceptibility) [MIM:125853].
PolymorphismGenetic variations in LIPC define the high density lipoprotein cholesterol level quantitative trait locus 12 (HDLCQ12) [MIM:612797].
SimilarityBelongs to the AB hydrolase superfamily. Lipase family. {ECO:0000305}.
SimilarityContains 1 PLAT domain. {ECO:0000255|PROSITE- ProRule:PRU00152}.
Subcellular LocationSecreted.
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LIPC";
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