Version 5.4
Homo sapiens Protein: LIPA
Summary
InnateDB Protein IDBP-382102.4
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 ENSP00000413019
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:0016042 lipid catabolic process
Cellular Component
GO:0005764 lysosome
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR000073 Alpha/beta hydrolase fold-1
IPR029058 Alpha/Beta hydrolase fold
PFAM PF00561
PRINTS PR00111
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P38571
PhosphoSite PhosphoSite-P38571
TrEMBL B4DE67
UniProt Splice Variant
Entrez Gene 3988
UniGene Hs.741437
RefSeq NP_001275908
HUGO HGNC:6617
OMIM 613497
CCDS CCDS73160
HPRD 02044
IMGT
EMBL AK222760 AK293491 AK314665 AL353146 AL353751 AL513533 BC012287 CH471066 M74775 U04285 U04286 U04287 U04288 U04290 U04291 U04292 U04293 U08464 X76488 Z31690
GenPept AAA59519 AAB60327 AAB60328 AAH12287 BAD96480 BAG37222 BAG56978 CAA54026 CAA83495 CAI12234 CAI12236 CAI12380 CAI13515 CAI13516 EAW50140 EAW50141 EAW50142

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca