Property Summary

NCBI Gene PubMed Count 54
PubMed Score 567.40
PubTator Score 409.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
ovarian cancer 8492 5.34269079612609E-13
Duchenne muscular dystrophy 602 3.14915766019932E-10
pilocytic astrocytoma 3086 1.21123313614885E-9
pediatric high grade glioma 2712 1.92840470499978E-8
glioblastoma 5572 2.80783688190663E-8
atypical teratoid / rhabdoid tumor 4369 9.92485761709873E-8
juvenile dermatomyositis 1189 1.07999405450354E-7
tuberculosis 1563 5.51412973222148E-7
pituitary cancer 1972 1.05844228278789E-5
lung cancer 4473 3.01161666255455E-5
medulloblastoma, large-cell 6234 8.94859525024317E-5
Down syndrome 548 0.00111016610708048
Multiple myeloma 1328 0.00131824264372197
active ulcerative colitis 477 0.00254980397939957
active Crohn's disease 918 0.00291558014508461
group 3 medulloblastoma 2254 0.00307039924630759
primary Sjogren syndrome 789 0.00341932879325389
astrocytic glioma 2241 0.00375101546768592
ependymoma 2514 0.00433334315515527
primitive neuroectodermal tumor 3031 0.00589726768362652
Waldenstrons macroglobulinemia 765 0.010908984224723
breast carcinoma 1614 0.0129366936147355
osteosarcoma 7933 0.0161785628291335
interstitial cystitis 2299 0.0260764791529141
Breast cancer 3099 0.0398597243510929
diabetes mellitus 1663 0.0450146247891054
subependymal giant cell astrocytoma 2287 0.0481310520411527
Disease Target Count Z-score Confidence
Cardiovascular system disease 194 0.0 2.0
Disease Target Count Z-score Confidence
Major Depressive Disorder 106 3.617 1.8
Disease Target Count
Cholesteryl ester storage disease 1

Expression

  Differential Expression (27)

Disease log2 FC p
Waldenstrons macroglobulinemia 1.374 0.011
Multiple myeloma 1.402 0.001
astrocytic glioma -1.900 0.004
ependymoma -2.300 0.004
osteosarcoma -1.078 0.016
glioblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -1.700 0.000
group 3 medulloblastoma -1.300 0.003
medulloblastoma, large-cell -1.600 0.000
primitive neuroectodermal tumor -1.200 0.006
Duchenne muscular dystrophy 1.768 0.000
juvenile dermatomyositis 1.114 0.000
tuberculosis 1.400 0.000
lung cancer -1.700 0.000
active Crohn's disease 2.055 0.003
active ulcerative colitis 1.782 0.003
breast carcinoma 1.200 0.013
diabetes mellitus -1.300 0.045
Breast cancer 2.900 0.040
interstitial cystitis 1.100 0.026
pediatric high grade glioma -1.400 0.000
pilocytic astrocytoma -1.600 0.000
primary Sjogren syndrome 1.600 0.003
subependymal giant cell astrocytoma -1.168 0.048
ovarian cancer -3.800 0.000
pituitary cancer 1.800 0.000
Down syndrome 1.400 0.001

Gene

PANTHER Protein Class (2)

  Ortholog (9)

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.
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AA Sequence

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