APOE Gene Summary [Human]
The protein encoded by this gene is a major apoprotein of the chylomicron. It binds to a specific liver and peripheral cell receptor, and is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. Mutations in this gene result in familial dysbetalipoproteinemia, or type III hyperlipoproteinemia (HLP III), in which increased plasma cholesterol and triglycerides are the consequence of impaired clearance of chylomicron and VLDL remnants. [provided by RefSeq, Jun 2016]
Details
| Type | Protein Coding |
| Official Symbol | APOE |
| Official Name | apolipoprotein E [Source:HGNC Symbol;Acc:HGNC:613] |
| Ensembl ID | ENSG00000130203 |
| Bio databases IDs | |
| Aliases | apolipoprotein E |
| Synonyms | AD2, APOEA, Apolipoprotein E, LDLCQ5, LPG |
| 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 APOE often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein dimerization
- lipoprotein binding domain
- lipid binding domain
- LDL receptor binding domain
- heparin binding domain
- antioxidant enzyme
- enzyme activator activity
- identical protein binding
- receptor binding domain
- amyloid beta binding domain
- tau protein binding
- phospholipid binding
- lipid binding
- enzyme binding
- protein binding
- receptor binding
- low-density lipoprotein receptor binding
- beta-amyloid binding
- hydroxyapatite binding
- metal chelating protein
- lipid transporter
- binding protein
- protein homodimerization
- receptor agonist activity
- structural molecule
- Apolipoprotein A1/A4/E domain
- glycosylation site
- heparin binding
- transporter
Pathways
Biological processes and signaling networks where the APOE gene in human plays a role, providing insight into its function and relevance in health or disease.
- Atherosclerosis Signaling
- Clathrin-mediated Endocytosis Signaling
- FXR/RXR Activation
- IL-12 Signaling and Production in Macrophages
- LPS/IL-1 Mediated Inhibition of RXR Function
- LXR/RXR Activation
- Maturity Onset Diabetes of Young (MODY) Signaling
- Production of Nitric Oxide and Reactive Oxygen Species in Macrophages
- Reelin Signaling in Neurons
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- breast cancer
- liver disease
- peripheral arterial disease
- cancer
- dermatological disorder
- psoriasis
- delirium
- pain
- dry eye
- neoplasia
role in cell
- expression in
- fragmentation in
- apoptosis
- phosphorylation in
- activation in
- cell death
- production in
- proliferation
- generation in
- morphology
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
- soluble fraction
- Golgi-enriched fraction
- lipid-rich fraction
- glutaminergic synapse
- endocytic vesicle membrane
- extracellular vesicles
- Cytoplasm
- perinuclear Golgi regions
- cell surface
- intracellular space
- perinuclear region
- organelle lumens
- membrane surface
- cellular membrane
- Nucleus
- Plasma Membrane
- endosomes
- vesicles
- Golgi Apparatus
- Endoplasmic Reticulum
- microtubules
- lipid droplets
- cytosol
- endoplasmic reticulum lumen
- plasma membrane extracellular face
- granular components
- Golgi membrane
- pre-lysosomal compartments
- nuclear envelope
- growth cone
- synapse
- recycling endosomes
- early endosomes
- late endosomes
- cytoplasmic vesicles
- melanosomes
- extracellular matrix
- membrane rafts
- perikaryon
- dendrites
- sorting endosomes
- Golgi vesicles
- exosomes
- plasma
- lipoprotein vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APOE gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of proteasomal protein catabolic process
- locomotory exploration behavior
- cytoskeleton organization
- positive regulation of endocytosis
- negative regulation of blood coagulation
- triglyceride metabolic process
- acylglycerol homeostasis
- regulation of protein metabolic process
- long-chain fatty acid transport
- positive regulation of membrane protein ectodomain proteolysis
- negative regulation of neuron projection development
- positive regulation of transcription, DNA-dependent
- regulation of neuronal synaptic plasticity
- positive regulation of low-density lipoprotein particle receptor catabolic process
- positive regulation of neuron projection development
- triglyceride homeostasis
- regulation of Cdc42 protein signal transduction
- negative regulation of protein metabolic process
- chylomicron remnant clearance
- high-density lipoprotein particle assembly
- G-protein coupled receptor signaling pathway
- intracellular transport
- regulation of beta-amyloid clearance
- negative regulation of inflammatory response
- high-density lipoprotein particle clearance
- positive regulation of beta-amyloid clearance
- artery morphogenesis
- positive regulation of dendritic spine development
- regulation of apoptotic process
- amyloid precursor protein metabolic process
- response to reactive oxygen species
- receptor-mediated endocytosis
- nitric oxide-cGMP-mediated signaling pathway
- regulation of cholesterol metabolic process
- long-term memory
- negative regulation of gene expression
- melanosome organization
- maintenance of location in cell
- negative regulation of cholesterol biosynthetic process
- negative regulation of platelet activation
- gene expression
- very-low-density lipoprotein particle remodeling
- synaptic transmission, cholinergic
- positive regulation of nitric oxide biosynthetic process
- negative regulation of long-term synaptic potentiation
- negative regulation of MAP kinase activity
- high-density lipoprotein particle remodeling
- low-density lipoprotein particle remodeling
- cholesterol metabolic process
- response to dietary excess
- vasodilation
- lipoprotein biosynthetic process
- lipoprotein catabolic process
- cholesterol homeostasis
- reverse cholesterol transport
- negative regulation of smooth muscle cell proliferation
- intermediate-density lipoprotein particle clearance
- positive regulation of cholesterol efflux
- virion assembly
- lipid transport involved in lipid storage
- triglyceride-rich lipoprotein particle clearance
- negative regulation of endothelial cell migration
- very-low-density lipoprotein particle clearance
- positive regulation of cholesterol metabolic process
- negative regulation of blood vessel endothelial cell migration
- negative regulation of protein secretion
- neuron projection development
- fatty acid homeostasis
- regulation of protein complex assembly
- positive regulation of lipid biosynthetic process
- cellular calcium ion homeostasis
- negative regulation of canonical Wnt receptor signaling pathway
- alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate receptor clustering
- regulation of axon extension
- cholesterol catabolic process
- regulation of behavioral fear response
- N-methyl-D-aspartate receptor clustering
- positive regulation of ERK1 and ERK2 cascade
- regulation of innate immune response
- cholesterol efflux
- negative regulation of endothelial cell proliferation
- negative regulation of triglyceride metabolic process
- protein import
- phospholipid efflux
Cellular Component
Where in the cell the gene product is active
- Golgi apparatus
- neuronal cell body
- extracellular region
- dendrite
- endoplasmic reticulum lumen
- early endosome
- clathrin-coated endocytic vesicle membrane
- extracellular vesicular exosome
- blood microparticle
- extracellular matrix
- very-low-density lipoprotein particle
- chylomicron remnant
- chylomicron
- discoidal high-density lipoprotein particle
- high-density lipoprotein particle
- intermediate-density lipoprotein particle
- low-density lipoprotein particle
- endoplasmic reticulum
- plasma membrane
- nucleus
- extracellular space
- synaptic cleft
- cytoplasm
- melanosome
- endocytic vesicle lumen
- membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein homodimerization activity
- antioxidant activity
- structural molecule activity
- phosphatidylcholine-sterol O-acyltransferase activator activity
- lipid binding
- heparin binding
- protein dimerization activity
- phospholipid binding
- receptor binding
- beta-amyloid binding
- metal chelating activity
- protein binding
- low-density lipoprotein particle receptor binding
- lipid transporter activity
- tau protein binding
- heparan sulfate proteoglycan binding
- lipoprotein particle binding
- very-low-density lipoprotein particle receptor binding
- enzyme binding