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Tchem
LIPA
Lysosomal acid lipase/cholesteryl ester hydrolase

Protein Classes
Protein Summary
Description
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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000336233
  • ENSP00000337354
  • ENSG00000107798
  • ENST00000371837
  • ENSP00000360903

Symbol
  • LAL
  • CESD
Illumination Graph
Knowledge Table
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
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
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
Tdark

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)
Tbio

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
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 8
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (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
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)
RepresentationColor Scheme
AF-P38571-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (9)
LDL clearance (R-HSA-8964038)

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)
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
Tdark
Novelty: 0.85949913
p_int: 0.79889198
p_ni: 0.20110802
Data Source: BioPlex
APOB
Tchem
Novelty: 0.00008247
Score: 0.943
Data Source: STRINGDB
SCGB1D2
Tbio
Novelty: 0.02178942
Score: 0.931
Data Source: STRINGDB
DHCR7
Tchem
Family: Enzyme
Novelty: 0.00358937
Score: 0.927
Data Source: STRINGDB
DHCR24
Tbio
Family: Enzyme
Novelty: 0.00480473
Score: 0.908
Data Source: STRINGDB
CEL
Tchem
Family: Enzyme
Novelty: 0.00156761
Score: 0.899
Data Source: STRINGDB
CH25H
Tbio
Family: Enzyme
Novelty: 0.01620877
Score: 0.887
Data Source: STRINGDB
CYP27A1
Tchem
Family: Enzyme
Novelty: 0.00071796
Score: 0.869
Data Source: STRINGDB
CYP7A1
Tbio
Family: Enzyme
Novelty: 0.00148194
Score: 0.856
Data Source: STRINGDB
CYP46A1
Tbio
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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