P38571B2RBH5D3DR29Q16529Q53H21Q5T074Q5T771Q96EJ0LICH_HUMANLysosomal acid lipase/cholesteryl ester hydrolaseAcid cholesteryl ester hydrolaseLAL3.1.1.13Cholesteryl esteraseLipase ASterol esteraseLIPAHomo sapiensHumanEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomoCloning and expression of cDNA encoding human lysosomal acid lipase/cholesteryl ester hydrolase. Similarities to gastric and lingual lipases.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)PROTEIN SEQUENCE OF 196-212; 277-297 AND 305-315FUNCTIONCATALYTIC ACTIVITYVARIANT PRO-16Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)PROTEIN SEQUENCE OF 28-33 AND 77-93FUNCTIONCATALYTIC ACTIVITYSUBUNITBIOPHYSICOCHEMICAL PROPERTIESTISSUE SPECIFICITYGLYCOSYLATIONTissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein.NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)VARIANT ARG-23Complete sequencing and characterization of 21,243 full-length human cDNAs.NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)VARIANT PRO-16NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)The DNA sequence and comparative analysis of human chromosome 10.NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)VARIANTS PRO-16 AND LEU-29Purification of the lysosomal acid lipase from human liver and its role in lysosomal lipid hydrolysis.FUNCTIONCATALYTIC ACTIVITYBIOPHYSICOCHEMICAL PROPERTIESLysosomal acid lipase as a preproprotein.FUNCTIONCATALYTIC ACTIVITYPROTEOLYTIC PROCESSINGMUTAGENESIS OF LYS-76 AND GLY-77BIOPHYSICOCHEMICAL PROPERTIESGlycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-161 AND ASN-321Initial characterization of the human central proteome.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]N-terminome analysis of the human mitochondrial proteome.IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.VARIANT WOLD PRO-200Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.VARIANT CESD PRO-200A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease.VARIANT WOLD 43-TYR--GLN-399 DELDifferent missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.VARIANTS CESD ARG-129 AND PRO-129CHARACTERIZATION OF VARIANTS CESD ARG-129 AND PRO-129FUNCTIONCATALYTIC ACTIVITYIntragenic deletion as a novel type of mutation in Wolman disease.INVOLVEMENT IN WOLDCatalyzes the deacylation of triacylglyceryl and cholesteryl ester core lipids of endocytosed low density lipoproteins to generate free fatty acids and cholesterol.a sterol ester + H2O = a fatty acid + a sterol + H(+)cholesteryl (9Z-octadecenoate) + H2O = (9Z)-octadecenoate + cholesterol + H(+)0.142 mM for cholesteryl oleate0.8 mM for cholesteryl oleate0.138 mM for trioleoylglycerol0.8 mM for trioleoylglycerol899 uM for trioleoylglycerol0.9 mM for 1,2-dioleoylglycerol1.2 mM for 1,3-dioleoylglycerol4390.0 nmol/min/mg enzyme with cholesteryl oleate as substrate1400.0 nmol/min/mg enzyme with cholesteryl oleate as substrate4756.0 mmol/min/mg enzyme with trioleoylglycerol as substrate5400.0 nmol/min/mg enzyme with trioleoylglycerol as substrate19400.0 nmol/min/mg enzyme with 1,2-dioleoylglycerol as substrate22100.0 nmol/min/mg enzyme with 1,3-dioleoylglycerol as substrateOptimum pH is 4.5-5 (PubMed:8112342). Optimum pH is 4.4 with either cholesterol oleate or trioleoylglycerol as substrate (PubMed:7204383).Monomer.LysosomeP38571-11P38571-22Most abundantly expressed in brain, lung, kidney and mammary gland, a moderate expression seen in placenta and expressed at low levels in the liver and heart.Glycosylation is not essential for catalytic activity.Cholesteryl ester storage disease
CESD
An autosomal recessive, mild form of lysosomal acid lipase deficiency characterized by accumulation of cholesteryl esters and triglycerides primarily in the liver. The clinical presentation is highly variable depending on residual levels of lysosomal acid lipase activity, and ranges from early onset of severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood. Age at onset varies from childhood to adulthood.The disease is caused by variants affecting the gene represented in this entry.Wolman disease
WOLD
An autosomal recessive, fulminant form of lysosomal acid lipase deficiency manifesting in early infancy. It is characterized by massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. In addition, accumulation of cholesteryl esters in the zona reticularis of the adrenal gland leads to adrenal calcification and cortical insufficiency. Death occurs early in life from inanition.The disease is caused by variants affecting the gene represented in this entry.Belongs to the AB hydrolase superfamily. Lipase family.3D-structureAlternative splicingDirect protein sequencingDisease variantGlycoproteinHydrolaseLipid degradationLipid metabolismLysosomeReference proteomeSignalDGYILCLNRIPHGRKNHSDKMACLEFVPFDVQMCLEFLPSTPGRVLHPHRLPFSKRGAKRMKMRFLGLVVCLVLWTLHSEGSGGKLTAVDPETNMNVSEIISYWGFPSEEYLVETEDGYILCLNRIPHGRKNHSDKGPKPVVFLQHGLLADSSNWVTNLANSSLGFILADAGFDVWMGNSRGNTWSRKHKTLSVSQDEFWAFSYDEMAKYDLPASINFILNKTGQEQVYYVGHSQGTTIGFIAFSQIPELAKRIKMFFALGPVASVAFCTSPMAKLGRLPDHLIKDLFGDKEFLPQSAFLKWLGTHVCTHVILKELCGNLCFLLCGFNERNLNMSRVDVYTTHSPAGTSVQNMLHWSQAVKFQKFQAFDWGSSAKNYFHYNQSYPPTYNVKDMLVPTAVWSGGHDWLADVYDVNILLTQITNLVFHESIPEWEHLDFIWGLDAPWRLYNKIINLMRKYQ
Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms Distributed under the Creative Commons Attribution (CC BY 4.0) License