LPL Gene Summary [Human]
LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | LPL |
| Official Name | lipoprotein lipase [Source:HGNC Symbol;Acc:HGNC:6677] |
| Ensembl ID | ENSG00000175445 |
| Bio databases IDs | |
| Aliases | lipoprotein lipase |
| Synonyms | HDLCQ11, Lipase, LIPD, lipoprotein lipase, Lipoprotein lipase 1 |
| 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 LPL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- phospholipase A1
- alpha/beta hydrolases
- protein binding activity, bridging
- calcium ion binding
- enzyme
- protein binding
- receptor binding
- lipoprotein lipase
- Lipoxygenase homology 2 (beta barrel) domain
- triglyceride binding
- phospholipase
- triacylglycerol lipase
- binding protein
- PLAT
- lipase
- protein homodimerization
- heparin binding
Pathways
Biological processes and signaling networks where the LPL 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
- amyotrophic lateral sclerosis
- familial hyperlipoproteinemia type IIa
- flushing response
- dyslipidemia
- familial combined hyperlipidemia
- lipoprotein lipase deficiency
- proteinuria
- hypertension
- chronic renal impairment
- hyperlipidemia
role in cell
- expression in
- quantity
- differentiation
- proliferation
- activation in
- accumulation in
- binding
- morphology
- size
- accumulation
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
- plasma membrane fraction
- high-density microsomal fractions
- detergent resistant lipid raft fraction
- cell surface
- Extracellular Space
- intracellular space
- cellular membrane
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- lipid droplets
- apical membrane
- pre-lysosomal compartments
- recycling endosomes
- rough endoplasmatic reticulum
- Golgi cisternae
- sorting endosomes
- exosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LPL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- very-low-density lipoprotein particle remodeling
- chylomicron remodeling
- low-density lipoprotein particle mediated signaling
- high-density lipoprotein particle remodeling
- triglyceride metabolic process
- positive regulation of fat cell differentiation
- phospholipid metabolic process
- cholesterol homeostasis
- response to glucose stimulus
- cellular response to fatty acid
- positive regulation of tumor necrosis factor production
- positive regulation of chemokine production
- triglyceride homeostasis
- positive regulation of sequestering of triglyceride
- cellular response to nutrient
- positive regulation of inflammatory response
- fatty acid biosynthetic process
- fatty acid metabolic process
- response to bacterium
- positive regulation of cholesterol storage
- positive regulation of chemokine (C-X-C motif) ligand 2 production
- positive regulation of macrophage derived foam cell differentiation
- triglyceride catabolic process
- positive regulation of interleukin-6 production
- positive regulation of lipid storage
- positive regulation of interleukin-1 beta production
Cellular Component
Where in the cell the gene product is active
- very-low-density lipoprotein particle
- extracellular space
- chylomicron
- extracellular region
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- apolipoprotein binding
- protein homodimerization activity
- heparin binding
- phosphatidylcholine 1-acylhydrolase activity
- lipoprotein lipase activity
- receptor binding
- phospholipase activity
- 1-acyl-2-lysophosphatidylserine acylhydrolase activity
- protein binding
- calcium ion binding
- protein anchor
- heparan sulfate proteoglycan binding
- phosphatidylserine 1-acylhydrolase activity
- triglyceride lipase activity
- lipoprotein particle binding