LIPA
Lysosomal acid lipase/cholesteryl ester hydrolase
Protein Summary
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. 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]
- ENST00000336233
- ENSP00000337354
- ENSG00000107798
- ENST00000371837
- ENSP00000360903
- LAL
- CESD
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
metabolite | 1 | ||
transcription factor perturbation | 1 | ||
virus perturbation | 0.88 | ||
cell type or tissue | 0.71 | ||
kinase perturbation | 0.71 | ||
Protein Classes
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 674.42 (req: < 5)
Gene RIFs: 34 (req: <= 3)
Antibodies: 247 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 674.42 (req: >= 5)
Gene RIFs: 34 (req: > 3)
Antibodies: 247 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 13
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligands: 8
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (8)
Protein-Protein Interactions (56)
Nearest Tclin Targets
Pathways (9)
Reactome (4)
KEGG (3)
PathwayCommons (1)
WikiPathways (1)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | LDL clearance | ||||
Reactome | Plasma lipoprotein assembly, remodeling, and clearance | ||||
Reactome | Plasma lipoprotein clearance | ||||
Reactome | Transport of small molecules | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
LDL clearance | ||||
Plasma lipoprotein assembly, remodeling, and clearance | ||||
Plasma lipoprotein clearance | ||||
Transport of small molecules | ||||
Viral Interactions (0)
Gene Ontology Terms (17)
Functions (2)
Components (4)
Processes (11)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Disease Associations (null)
GWAS Traits (13)
Items per page:
1 – 5 of 13
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
C-reactive protein measurement | 4 | 4 | 4 | 95.1 | |||||
9 | 3 | 4 | 1.1 | 92.3 | |||||
3 | 3 | 0 | 1.1 | 88.7 | |||||
neutrophil count | 3 | 2 | 3 | 88.5 | |||||
myeloid white cell count | 1 | 1 | 1 | 75.7 | |||||
Items per page:
1 – 5 of 13
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
C-reactive protein measurement | 4 | 95.1 | |||||
4 | 1.1 | 92.3 | |||||
0 | 1.1 | 88.7 | |||||
neutrophil count | 3 | 88.5 | |||||
myeloid white cell count | 1 | 75.7 | |||||
Find similar targets by:
IDG Resources
Orthologs (9)
1 – 5 of 9
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | lipase A, lysosomal acid type | VGNC:7847 | 466150 | |||||
Mouse | MGI:96789 | 16889 | ||||||
Rat | RGD:3008 | 25055 | ||||||
Dog | lipase A, lysosomal acid type | VGNC:42693 | 100856363 | |||||
Horse | lipase A, lysosomal acid type | VGNC:19685 | 100071626 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | lipase A, lysosomal acid type | |||||
Mouse | ||||||
Rat | ||||||
Dog | lipase A, lysosomal acid type | |||||
Horse | lipase A, lysosomal acid type | |||||
Publication Statistics
PubMed Score 674.42
PubMed score by year
PubTator Score 499.46
PubTator score by year
Related Publications
Text Mined References (65)
GeneRif Annotations (34)
Items per page:
0 of 0
PMID | Year | Title |
|---|