Property Summary

NCBI Gene PubMed Count 54
PubMed Score 567.40
PubTator Score 409.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (27)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.374 1.1e-02
Multiple myeloma 1.402 1.3e-03
astrocytic glioma -1.900 3.8e-03
ependymoma -2.300 4.3e-03
osteosarcoma -1.078 1.6e-02
glioblastoma -1.700 2.8e-08
atypical teratoid / rhabdoid tumor -1.700 9.9e-08
group 3 medulloblastoma -1.300 3.1e-03
medulloblastoma, large-cell -1.600 8.9e-05
primitive neuroectodermal tumor -1.200 5.9e-03
Duchenne muscular dystrophy 1.768 3.1e-10
juvenile dermatomyositis 1.114 1.1e-07
tuberculosis 1.400 5.5e-07
lung cancer -1.700 3.0e-05
active Crohn's disease 2.055 2.9e-03
active ulcerative colitis 1.782 2.5e-03
breast carcinoma 1.200 1.3e-02
diabetes mellitus -1.300 4.5e-02
Breast cancer 2.900 4.0e-02
interstitial cystitis 1.100 2.6e-02
pediatric high grade glioma -1.400 1.9e-08
pilocytic astrocytoma -1.600 1.2e-09
primary Sjogren syndrome 1.600 3.4e-03
subependymal giant cell astrocytoma -1.168 4.8e-02
ovarian cancer -3.800 5.3e-13
pituitary cancer 1.800 1.1e-05
Down syndrome 1.400 1.1e-03

Protein-protein Interaction (1)

Gene RIF (31)

PMID Text
26288848 These findings suggest a strong association between impaired LAL activity and Non-alcoholic fatty liver disease.
26212911 lysosomal acid lipase in hepatocytes is a critical metabolic enzyme in controlling neutral lipid metabolism
25624737 Case Report: Mexican sisters with heterozygous mutations in exon 4: c.253C>A and c.294C>G resulting in lysosomal acid lipase deficiency.
25620107 The observed loss-of-function phenotype in cholesteryl ester storage disease patients with the His295Tyr (H295Y) mutation in the LAL gene might arise from a combination of protein destabilization and the shift to a non-functional soluble aggregate.
24832708 Wolmans disease is a rare autosomal recessive lysosomal storage disease.
24122380 To our knowledge, this is the first pediatric case of genetically and biopsy confirmed CESD without hepatomegaly, suggesting that this diagnosis can be easily missed.
24069331 the rs1412444 and rs2246833 of the LIPA gene are shared susceptibility polymorphisms for CAD among different ethnicities.
23652569 Mutations in lysosomal acid lipase A result in two phenotypes depending on the extent of lysosomal acid lipase deficiency. [Review]
23624251 used (1)H magnetic resonance (MR) spectroscopy to characterize the abnormalities in hepatic lipid content and composition in patients with LAL deficiency
23424026 CESD prevalence in African and Asian populations may require full-gene LIPA sequencing to determine heterozygote frequencies. CESD may be underdiagnosed in the general Caucasian and Hispanic populations.
23164340 The expression of LIPA may be associated with increased phospholipid content in the brains of violent suicide completers.
22795295 The results show that lysosomal acid lipase E8SJM mutation carriers have an alteration in lipid profile with a Polygenic Hypercholesterolemia phenotype.
22395809 LIPA polymorphisms contribute to the interindividual variability observed in obesity-related metabolic complications
22227072 study identified two novel mutations of LIPA gene in Wolman Disease patients which abolished the expression of LAL enzyme; also found that all cholesteryl ester storage disease patients carried the common mutant allele c.894G>A
21963785 a novel paternally inherited c.482delA mutation in exon 5 of Lipase A that results in a frameshift mutation at amino acid 161 is reported in a fatal case of Wolman disease
21900179 Lysosomal acid lipase in myeloid cells plays a critical role in maintaining normal hematopoietic cell development and balancing immunosuppression and inflammation.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19343046 Observational study of gene-disease association. (HuGE Navigator)
19307143 the molecular characterization of three heterozygous patients with Cholesteryl Ester Storage Disease carrying the common LIPA gene mutation (c.894 G>A, del p.S275_Q298), in combination with two novel mutations resulting in null alleles, was reported.
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18796546 Although LAL contributed to the deesterification of DHEA-FAE, it was not solely responsible for the hydrolysis.
16730122 Observational study of gene-disease association. (HuGE Navigator)
16385451 Observational study of gene-disease association. (HuGE Navigator)
16131527 The human liver enzyme is expressed in hepatocytes, where it potentially regulates the synthesis of bile acids and thus the removal of cholesterol from the body.
16024911 macrophage cholesteryl ester hydrolase associates with its intracellular substrate (lipid droplets) and hydrolyzes cholesteryl esters more efficiently from mixed droplets
16013913 Observational study of gene-disease association. (HuGE Navigator)
15465627 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGR      1 - 70
KNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFW     71 - 140
AFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCT    141 - 210
SPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVY    211 - 280
TTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADV    281 - 350
YDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ                         351 - 399
//

Text Mined References (56)

PMID Year Title
26288848 2015 Reduced Lysosomal Acid Lipase Activity in Adult Patients With Non-alcoholic Fatty Liver Disease.
26212911 2015 Hepatocyte-Specific Expression of Human Lysosome Acid Lipase Corrects Liver Inflammation and Tumor Metastasis in lal(-/-) Mice.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25624737 2015 Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
25620107 2015 Expression and functional characterization of human lysosomal acid lipase gene (LIPA) mutation responsible for cholesteryl ester storage disease (CESD) phenotype.
24832708 2014 Infant case of lysosomal acid lipase deficiency: Wolman's disease.
24122380 2013 Cholesteryl ester storage disease: an easily missed diagnosis in oligosymptomatic children.
24069331 2013 Single nucleotide polymorphisms within LIPA (Lysosomal Acid Lipase A) gene are associated with susceptibility to premature coronary artery disease. a replication in the genetic of atherosclerotic disease (GEA) Mexican study.
23652569 2013 Lysosomal acid lipase A and the hypercholesterolaemic phenotype.
23624251 2013 Hepatic cholesteryl ester accumulation in lysosomal acid lipase deficiency: non-invasive identification and treatment monitoring by magnetic resonance.
23424026 2013 Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23164340 2013 Cholesterol and phospholipids in frontal cortex and synaptosomes of suicide completers: relationship with endosomal lipid trafficking genes.
22795295 2013 Heterozygosity for lysosomal acid lipase E8SJM mutation and serum lipid concentrations.
22395809 2012 Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients.
22227072 2012 Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.
21963785 2011 Intragenic deletion as a novel type of mutation in Wolman disease.
21900179 2011 Myeloid-specific expression of human lysosomal acid lipase corrects malformation and malfunction of myeloid-derived suppressor cells in lal-/- mice.
21606135 2011 A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
21378988 2011 A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20237496 2010 New genetic associations detected in a host response study to hepatitis B vaccine.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19343046 2009 Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
19307143 2009 Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18796546 2008 Role of lysosomal acid lipase in the intracellular metabolism of LDL-transported dehydroepiandrosterone-fatty acyl esters.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16806233 2007 Identifying leukocyte gene expression patterns associated with plasma lipid levels in human subjects.
16730122 2006 Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16131527 2005 Human liver cholesteryl ester hydrolase: cloning, molecular characterization, and role in cellular cholesterol homeostasis.
16024911 2005 Redistribution of macrophage cholesteryl ester hydrolase from cytoplasm to lipid droplets upon lipid loading.
16013913 2005 A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15465627 Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12162818 2002 Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice.
9705237 1998 Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease.
9633819 1998 Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
8956047 1996 A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.
8725147 1996 Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein.
8432549 1993 In situ localization of the genetic locus encoding the lysosomal acid lipase/cholesteryl esterase (LIPA) deficient in Wolman disease to chromosome 10q23.2-q23.3.
8254026 1993 A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
8146180 1994 Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8112342 1994 Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase.
7759067 1995 Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
1718995 1991 Cloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.