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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
Corresponding disease
LIPAD lysosomal acid, lipase deficiency
Location 10q23.31      Physical location : 90.973.327 - 91.011.660
Synonym name
  • acid cholesteryl ester hydrolase
  • lysosomal acidic lipase
  • Synonym symbol(s) LAL, CESD, LIPAD
    EC.number 3.1.1.13
    DNA
    TYPE functioning gene
    STRUCTURE 38.47 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2669 - 399 - 1994 8112342
    10 - 2654 - 399 - 1994 8112342
    8 - 2545 - 283 - 1994 8112342
    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)
  • 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
  • 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