Homo sapiens Gene: LIPA
Summary
InnateDB Gene IDBG-81838.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol LIPA
Gene Name lipase A, lysosomal acid, cholesterol esterase
Synonyms CESD; LAL;
Species Homo sapiens
Ensembl Gene ENSG00000107798
Encoded Proteins
lipase A, lysosomal acid, cholesterol esterase
lipase A, lysosomal acid, cholesterol esterase
lipase A, lysosomal acid, cholesterol esterase
lipase A, lysosomal acid, cholesterol esterase
lipase A, lysosomal acid, cholesterol esterase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:89213569-89414557
Strand Reverse strand
Band q23.31
Transcripts
ENST00000282673 ENSP00000282673
ENST00000371837 ENSP00000360903
ENST00000336233 ENSP00000337354
ENST00000456827 ENSP00000413019
ENST00000428800 ENSP00000388415
ENST00000487618
ENST00000463623
ENST00000489359
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
Cellular Component
GO:0005764 lysosome
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Steroid biosynthesis pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL Q5T770
UniProt Splice Variant
Entrez Gene 3988
UniGene Hs.643030 Hs.702467 Hs.708449 Hs.741437
RefSeq NM_001127605 NM_000235 NM_001288979
HUGO HGNC:6617
OMIM 613497
CCDS CCDS7401 CCDS73160
HPRD 02044
IMGT
EMBL AL353146 AL353751 AL513533
GenPept
RNA Seq Atlas 101926887 3988