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FLASH GENE
Symbol LIPA contributors: mct - updated : 27-12-2018
HGNC name lipase A, lysosomal acid, cholesterol esterase
HGNC id 6617
PROTEIN
PHYSICAL PROPERTIES acid
STRUCTURE
motifs/domains
conjugated GlycoP , RiboP
HOMOLOGY
interspecies ortholog to rattus Lipa
ortholog to murine Lip1
Homologene
FAMILY
  • AB hydrolase superfamily
  • lipase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • playing a crucial role in the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor-mediated endocytosis of lipoprotein particles
  • being important in mediating the effect of LDL (low density lipoprotein) uptake on suppression of hydroxymethylglutaryl-CoA reductase and activation of endogenous cellular cholesteryl ester formation
  • involved in cholesterol metabolism and responsible for catalysing the hydrolysis of cholesteryl esters and triglycerides inside the lysosome (von Trotha 2006)
  • having a role in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters (Wang 2008)
  • serine hydrolase which hydrolyzes cholesteryl ester and triglycerides delivered to the lysosomes into free cholesterol and free fatty acids
  • plays a critical role in regulating mesenchymal stem cells (MSCs) ability to stimulate tumor growth and metastasis, which provides a mechanistic basis for targeting LIPA in MSCs to reduce the risk of cancer metastasis
  • WIPF3 and LIPA, both of which are expressed in the macrophages are involved in pathological abdominal aortic aneurysm (AAA)
  • hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein
  • essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • potential role of LIPA as a target to increase ABCA1 expression and HDL formation at the cellular and clinical level
  • FOXO1 is upregulated by nutrient restriction (NR) in adipocytes and exerts the transcriptional control of lipid catabolism via the induction of lysosomal acid lipase (LIPA)
  • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) LIPAD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in non-alcoholic steatohepatitis, which is the major cause of cryptogenic cirrhosis
    Susceptibility
  • to abdominal aortic aneurysm (AAA)
  • to coronary artery disease (CAD)
  • to metabolic syndrome
  • Variant & Polymorphism SNP
  • rs1051338 and rs2246942 increased the risk of abdominal aortic aneurysm (AAA)
  • rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD
  • LIPA rs1412444 is associated with metabolic syndrome
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • deletion of sterol O-acyltransferase 2 (Soat2) function in mice deficient in lysosomal acid lipase (Lipa) dramatically reduces esterified cholesterol sequestration in the small intestine and liver