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lipase A, lysosomal acid type
Summary
- Gene Symbol
-
- LIPA
- Aliases
-
- CESD
- LAL
- Wolman disease
- lysosomal acid lipase
- sterol esterase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Direct protein sequencing
- Disease variant
- Glycoprotein
- Hydrolase
- Lipid degradation
- Lysosome
- Proteomics identification
- Reference proteome
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0A0MT32 |
|
| P38571 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitotic cell cycle |
|
|
| cell morphogenesis |
|
|
| endothelial cell proliferation |
|
|
| response to dietary excess |
|
|
| hematopoietic progenitor cell differentiation |
|
|
GO Hierarchy
biological process
cellular process [inference]
metabolic process [inference]
phosphorus metabolic process [inference]
phosphate-containing compound metabolic process [inference]
organophosphate metabolic process [inference]
catabolic process [inference]
biosynthetic process [inference]
primary metabolic process [inference]
small molecule metabolic process [inference]
purine-containing compound metabolic process [inference]
multicellular organismal process [inference]
developmental process [inference]
biological regulation [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| fibrillar center |
|
|
| nucleoplasm |
|
|
| lysosome |
|
|
| lysosome |
|
|
| lysosome |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| sterol ester esterase activity |
|
|
| sterol ester esterase activity |
|
|
| sterol ester esterase activity |
|
|
| sterol ester esterase activity |
|
|
| sterol ester esterase activity |
|
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- Lipase
- Functional Category
-
- I: Lipid transport and metabolism
- Q: Secondary metabolites biosynthesis, transport and catabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hydrolase activity, acting on ester bonds |
| lipid metabolic process |
| InterPro |
|---|
| Alpha/Beta hydrolase fold |
| Lipase, eukaryotic |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:14497 | Wolman disease | |
| DOID:0080217 | lysosomal acid lipase deficiency | |
| DOID:14502 | cholesterol ester storage disease |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000846 | Adrenal insufficiency |
| HP:0000952 | Jaundice |
| HP:0000989 | Pruritus |
| HP:0001263 | Global developmental delay |
| HP:0001394 | Cirrhosis |
| HP:0001395 | Hepatic fibrosis |
| HP:0001397 | Hepatic steatosis |
| HP:0001399 | Hepatic failure |
| HP:0001405 | Periportal fibrosis |
| Disease ID | Disease Name |
|---|---|
| OMIM:620151 |
|
| ORPHA:75234 |
|
| OMIM:278000 |
|
| ORPHA:75233 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000369
- Gene Name
- lipase A, lysosomal acid, cholesterol esterase
Ortholog
| Species | Gene ID | Alliance of Genome Resources |
|---|---|---|
| 16889 | MGI:96789 | |
| 179771 | WB:WBGene00010062 | |
| 178572 | WB:WBGene00020016 | |
| 178563 | WB:WBGene00022642 | |
| 185840 | WB:WBGene00009773 | |
| 179046 | WB:WBGene00019376 | |
| 43973 | FB:FBgn0023496 | |
| 41643 | FB:FBgn0023495 |
