APOL1 Gene Summary [Human]
This gene encodes a secreted high density lipoprotein which binds to apolipoprotein A-I. Apolipoprotein A-I is a relatively abundant plasma protein and is the major apoprotein of HDL. It is involved in the formation of most cholesteryl esters in plasma and also promotes efflux of cholesterol from cells. This apolipoprotein L family member may play a role in lipid exchange and transport throughout the body, as well as in reverse cholesterol transport from peripheral cells to the liver. Several different transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]
Details
| Type | Protein Coding |
| Official Symbol | APOL1 |
| Official Name | apolipoprotein L1 [Source:HGNC Symbol;Acc:HGNC:618] |
| Ensembl ID | ENSG00000100342 |
| Bio databases IDs | |
| Aliases | apolipoprotein L1 |
| Synonyms | APO-L, APOL-I, apolipoprotein L1, FSGS4 |
| Species | Human, Homo sapiens |
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 APOL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid binding
- Bcl-2 homology 3 domain
- chloride channel
- protein binding
- Apolipoprotein L
- transporter
Pathways
Biological processes and signaling networks where the APOL1 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.
binds
- cardiolipin
- phosphatidylinositol triphosphate
- phosphatidylinositol 4-phosphate
- phosphtidylinositol 5-phosphate
- CDC23
- phosphatidylinositol 4,5-bisphosphate
- phosphatidylinositol-3,4,5-triphosphate
- phosphatidic acid
- cerebroside 3-sulfate
- phosphatidylinositol 3,4-bisphosphate
disease
- non-insulin-dependent diabetes mellitus
- neoplasia
- glomerulonephritis
- renal failure
- aortic valve calcification
- chronic kidney disease
- susceptibility to focal segmental glomerulosclerosis type 4
- rheumatoid arthritis
- kidney disease
- focal segmental glomerulosclerosis
role in cell
- expression in
- migration
- activation in
- proliferation
- cell death
- apoptosis
- formation
- swelling
- expansion
- oxygen consumption rate
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- lipid droplets
- endoplasmic reticulum lumen
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APOL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- lipid transport
- innate immune response
- cholesterol metabolic process
- cytolysis by host of symbiont cells
- lipoprotein metabolic process
Cellular Component
Where in the cell the gene product is active
- very-low-density lipoprotein particle
- endoplasmic reticulum lumen
- extracellular space
- high-density lipoprotein particle
- membrane
- blood microparticle
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- lipid binding
- chloride channel activity