Entity Details

Primary name LIPE
Entity type gene
Source Source Link

Details

PrimaryID3991
RefseqGeneNG_034246
SymbolLIPE
Namelipase E, hormone sensitive type
Chromosome19
Location19q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-21
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLIPS_HUMAN

GO terms

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GOName
GO:0004771 sterol esterase activity
GO:0004806 triglyceride lipase activity
GO:0005811 lipid droplet
GO:0005829 cytosol
GO:0005901 caveola
GO:0006468 protein phosphorylation
GO:0008203 cholesterol metabolic process
GO:0016020 membrane
GO:0016042 lipid catabolic process
GO:0019433 triglyceride catabolic process
GO:0033878 hormone-sensitive lipase activity
GO:0046340 diacylglycerol catabolic process
GO:0046485 ether lipid metabolic process
GO:0047372 acylglycerol lipase activity
GO:0047376 all-trans-retinyl-palmitate hydrolase, all-trans-retinol forming activity
GO:0050253 retinyl-palmitate esterase activity
GO:0102258 1,3-diacylglycerol acylhydrolase activity
GO:0102259 1,2-diacylglycerol acylhydrolase activity

Diseases

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Disease IDSourceNameDescription
615980 OMIMLipodystrophy, familial partial, 6 (FPLD6)A form of lipodystrophy characterized by abnormal subcutaneous fat distribution. Affected individuals have increased visceral fat, impaired lipolysis, dyslipidemia, hepatic steatosis, systemic insulin resistance, and diabetes. Some patients manifest muscular dystrophy. The disease is caused by variants affecting the gene represented in this entry.