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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
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
 vessel   highly
Digestiveintestinesmall intestine  predominantly
 intestinelarge intestinecolon moderately
 liver   moderately
 stomach   highly
Lymphoid/Immunelymph node   moderately
Nervousbrain   moderately
Reproductivefemale systemplacenta  highly
Urinarybladder   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow   
Connectivebone   
Nervouscentral   
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/Immunemacrophage Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
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