LIPA
Lysosomal acid lipase/cholesteryl ester hydrolase
Protein Classes
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 | ||
Related Tools
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.
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: 655.09 (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: 655.09 (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
Active Ligands (8)
1 – 8 of 8
GWAS Traits (10)
Items per page:
1 – 5 of 10
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
C-reactive protein measurement | 3 | 3 | 3 | 98.5 | |||||
9 | 3 | 4 | 1.1 | 98.2 | |||||
neutrophil count | 3 | 2 | 3 | 85.1 | |||||
myeloid white cell count | 1 | 1 | 1 | 76.7 | |||||
1 | 1 | 0 | 1.1 | 66.9 | |||||
Items per page:
1 – 5 of 10
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
C-reactive protein measurement | 3 | 98.5 | |||||
4 | 1.1 | 98.2 | |||||
neutrophil count | 3 | 85.1 | |||||
myeloid white cell count | 1 | 76.7 | |||||
0 | 1.1 | 66.9 | |||||
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 | |||||
Protein Structure (0 Structures, 1 AlphaFold Model)
Pathways (9)
Reactome (4)
KEGG (3)
PathwayCommons (1)
WikiPathways (1)
Click on a row in the table to change the structure displayed.
Items per page:
1 – 4 of 4
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 | ||||
Gene Ontology Terms (17)
Functions (2)
Components (4)
Processes (11)
Items per page:
10
1 – 2 of 2
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | UniProtKB | |||
Inferred from Direct Assay (IDA) | UniProtKB | |||
Protein-Protein Interactions (56)
1 – 10 of 56
TTC9C
Novelty: 0.85949913
p_int: 0.79889198
p_ni: 0.20110802
Data Source: BioPlex
APOB
Novelty: 0.00008247
Score: 0.943
Data Source: STRINGDB
SCGB1D2
Novelty: 0.02178942
Score: 0.931
Data Source: STRINGDB
DHCR7
Family: Enzyme
Novelty: 0.00358937
Score: 0.927
Data Source: STRINGDB
DHCR24
Family: Enzyme
Novelty: 0.00480473
Score: 0.908
Data Source: STRINGDB
CEL
Family: Enzyme
Novelty: 0.00156761
Score: 0.899
Data Source: STRINGDB
CH25H
Family: Enzyme
Novelty: 0.01620877
Score: 0.887
Data Source: STRINGDB
CYP27A1
Family: Enzyme
Novelty: 0.00071796
Score: 0.869
Data Source: STRINGDB
CYP7A1
Family: Enzyme
Novelty: 0.00148194
Score: 0.856
Data Source: STRINGDB
CYP46A1
Family: Enzyme
Novelty: 0.01549935
Score: 0.824
Data Source: STRINGDB
Publication Statistics
PubMed Score 655.09
PubMed score by year
PubTator Score 499.46
PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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UniProt Keyword
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