ANGPTL3 Gene Summary [Human]
This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]
Details
| Type | Protein Coding |
| Official Symbol | ANGPTL3 |
| Official Name | angiopoietin like 3 [Source:HGNC Symbol;Acc:HGNC:491] |
| Ensembl ID | ENSG00000132855 |
| Bio databases IDs | |
| Aliases | angiopoietin like 3, angiopoietin 5 |
| Synonyms | ANG-5, angiopoietin-like 3, ANGPT5, ANL3, FHBL2, hypl |
| 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 ANGPTL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- fibrinogen-like domain
- enzyme inhibitor activity
- integrin binding
- heparin binding domain
- phospholipase inhibitor
- enzyme binding
- coiled-coil domain
- FReD
- growth factor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- epithelial cancer
- diabetic nephropathy
- hepatitis B virus-related hepatocellular carcinoma
- liver cancer
- familial hypobetalipoproteinemia type 2
- aortic valve calcification
- atherosclerosis
- homozygous familial hypercholesterolemia
- hypertriglyceridemia
role in cell
- differentiation
- migration
- adhesion
- molecular cleavage in
- rearrangement
- inhibition in
- frequency
- dissociation in
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
- cell surface
- Golgi Apparatus
- early endosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ANGPTL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glycerol metabolic process
- cell-matrix adhesion
- lipid storage
- signal transduction
- lipid homeostasis
- phospholipid catabolic process
- cholesterol metabolic process
- artery morphogenesis
- phospholipid metabolic process
- response to hormone stimulus
- acylglycerol homeostasis
- cholesterol homeostasis
- positive regulation of angiogenesis
- phospholipid homeostasis
- fatty acid metabolic process
- negative regulation of phospholipase activity
- negative regulation of lipoprotein lipase activity
- integrin-mediated signaling pathway
- angiogenesis
- triglyceride homeostasis
- positive regulation of cell migration
- positive regulation of lipid catabolic process
Cellular Component
Where in the cell the gene product is active
- extracellular space
- early endosome
- Golgi apparatus
- extracellular region
- cell surface
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- growth factor activity
- enzyme inhibitor activity
- phospholipase inhibitor activity
- integrin binding
- heparin binding