LIPA Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | LIPA |
| Official Name | lipase A, lysosomal acid type [Source:HGNC Symbol;Acc:HGNC:6617] |
| Ensembl ID | ENSG00000107798 |
| Bio databases IDs | |
| Aliases | lipase A, lysosomal acid type, Wolman disease, lysosomal acid lipase, sterol esterase |
| Synonyms | Aceh, CEH, CESD, Chole, Chole2, Cholesteryl ester hydrolase, LAL, LIP1, Lipase A, lipase A, lysosomal acid type, lysosomal acid lipase A |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LIPA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alpha/beta hydrolase fold
- sterol esterase
- alpha/beta hydrolases
- Partial alpha/beta-hydrolase lipase region
- lipase
- enzyme
Pathways
Biological processes and signaling networks where the LIPA gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myocardial infarction
- heart disease
- COVID-19
- neoplasia
- breast cancer
- lysosomal acid lipase deficiency
- Wolman disease
- coronary artery disease
- ischemic stroke
- gastric adenocarcinoma
role in cell
- expression in
- number
- proliferation
- organization
- binding in
- adhesion
- apoptosis
- production in
- migration
- differentiation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- fibrillar center
- intracellular membrane-bounded organelle
- cellular membrane
- lysosome
- cytosol
- microsome
- lysosomal compartment
- nucleoplasm
- phagosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LIPA gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- determination of adult lifespan
- triglyceride metabolic process
- glucose metabolic process
- hemopoietic progenitor cell differentiation
- regulation of mitochondrial membrane potential
- defecation
- low-density lipoprotein particle clearance
- small GTPase mediated signal transduction
- cell morphogenesis
- glycolysis
- cholesterol biosynthetic process
- endocytosis
- vitamin A metabolic process
- T cell differentiation
- tissue remodeling
- blood vessel endothelial cell differentiation
- liver morphogenesis
- acute inflammatory response
- lipid catabolic process
- T cell apoptotic process
- myeloid cell differentiation
- gene expression
- sterol metabolic process
- cell proliferation in bone marrow
- spleen development
- response to xenobiotic stimulus
- response to dietary excess
- lipoprotein catabolic process
- bone marrow development
- mitotic cell cycle
- response to cold
- respiratory burst involved in inflammatory response
- cholesterol storage
- fat cell proliferation
- triglyceride-rich lipoprotein particle clearance
- lung development
- lysosome organization
- lipid homeostasis
- endosome to lysosome transport
- TOR signaling cascade
- ATP biosynthetic process
- mitochondrion organization
- fatty acid metabolic process
- adipose tissue development
- positive regulation of T cell receptor signaling pathway
- homeostasis of number of cells within a tissue
- T cell proliferation
- endothelial cell proliferation
- cholesterol efflux
- response to vitamin A
- common myeloid progenitor cell proliferation
- myeloid cell apoptotic process
Cellular Component
Where in the cell the gene product is active
- intracellular membrane-bounded organelle
- cytosol
- lysosomal lumen
- fibrillar center
- nucleoplasm
- lysosome
Molecular Function
What the gene product does at the molecular level
- sterol esterase activity
- lipase activity