Human Gene LIPA (ENST00000336233.10) from GENCODE V44
Description: Homo sapiens lipase A, lysosomal acid type (LIPA), transcript variant 1, mRNA. (from RefSeq NM_001127605) RefSeq Summary (NM_000235): This gene encodes lipase A, the lysosomal acid lipase (also known as cholesterol ester hydrolase). This enzyme functions in the lysosome to catalyze the hydrolysis of cholesteryl esters and triglycerides. Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2014]. Gencode Transcript: ENST00000336233.10 Gencode Gene: ENSG00000107798.18 Transcript (Including UTRs) Position: hg38 chr10:89,213,572-89,251,775 Size: 38,204 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chr10:89,214,828-89,247,648 Size: 32,821 Coding Exon Count: 9
ID:LICH_HUMAN DESCRIPTION: RecName: Full=Lysosomal acid lipase/cholesteryl ester hydrolase; Short=Acid cholesteryl ester hydrolase; Short=LAL; EC=3.1.1.13; AltName: Full=Cholesteryl esterase; AltName: Full=Lipase A; AltName: Full=Sterol esterase; Flags: Precursor; FUNCTION: Crucial for the intracellular hydrolysis of cholesteryl esters and triglycerides that have been internalized via receptor- mediated endocytosis of lipoprotein particles. 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. CATALYTIC ACTIVITY: A steryl ester + H(2)O = a sterol + a fatty acid. SUBCELLULAR LOCATION: Lysosome. DISEASE: Defects in LIPA are the cause of Wolman disease (WOD) [MIM:278000]. WOD is a severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WOD occurs in infancy and is nearly always fatal before the age of 1 year. DISEASE: Defects in LIPA are the cause of cholesteryl ester storage disease (CESD) [MIM:278000]. CESD is a mild manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. It is characterized by late-onset. SIMILARITY: Belongs to the AB hydrolase superfamily. Lipase family. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LIPA";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P38571
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
