InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: LIPA

Summary

InnateDB Protein

IDBP-81842.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LIPA

Protein Name

lipase A, lysosomal acid, cholesterol esterase

Synonyms

CESD; LAL;

Species

Homo sapiens

Ensembl Protein

ENSP00000337354

InnateDB Gene

IDBG-81838 (LIPA)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Lysosome.

Disease Associations

Wolman disease (WOD) [MIM:278000]: A severe manifestation of LIPA deficiency, leading to the accumulation of cholesteryl esters and triglycerides in most tissues of the body. WD occurs in infancy and is nearly always fatal before the age of 1 year. Note=The disease is caused by mutations affecting the gene represented in this entry.Cholesteryl ester storage disease (CESD) [MIM:278000]: 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. {ECO:0000269PubMed:8146180, ECO:0000269PubMed:9633819}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	1 [view]
Protein-DNA	1 [view]
Protein-RNA	1 [view]
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004771	sterol esterase activity
GO:0016298	lipase activity

Biological Process

GO:0000902	cell morphogenesis
GO:0001816	cytokine production
GO:0006629	lipid metabolic process
GO:0006954	inflammatory response
GO:0008283	cell proliferation
GO:0016042	lipid catabolic process
GO:0030324	lung development
GO:0048771	tissue remodeling
GO:0048873	homeostasis of number of cells within a tissue