Homo sapiens Gene: APOE
Summary
InnateDB Gene IDBG-56807.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APOE
Gene Name apolipoprotein E
Synonyms AD2; LDLCQ5; LPG;
Species Homo sapiens
Ensembl Gene ENSG00000130203
Encoded Proteins
apolipoprotein E
apolipoprotein E
apolipoprotein E
apolipoprotein E
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E 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, Jul 2008]
Chylomicron remnants and very low density lipoprotein (VLDL) remnants are rapidly removed from the circulation by receptor-mediated endocytosis in the liver. Apolipoprotein E, a main apoprotein of the chylomicron, binds to a specific receptor on liver cells and peripheral cells. ApoE is essential for the normal catabolism of triglyceride-rich lipoprotein constituents. The APOE gene is mapped to chromosome 19 in a cluster with APOC1 and APOC2. Defects in apolipoprotein E 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, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:44905754-44909393
Strand Forward strand
Band q13.32
Transcripts
ENST00000252486 ENSP00000252486
ENST00000446996 ENSP00000413135
ENST00000434152 ENSP00000413653
ENST00000425718 ENSP00000410423
ENST00000485628
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 66 [view]
Protein-Protein 66 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0001540 beta-amyloid binding
GO:0005102 receptor binding
GO:0005319 lipid transporter activity
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008201 heparin binding
GO:0008289 lipid binding
GO:0016209 antioxidant activity
GO:0017127 cholesterol transporter activity
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0046848 hydroxyapatite binding
GO:0046911 metal chelating activity
GO:0048156 tau protein binding
GO:0050750 low-density lipoprotein particle receptor binding
GO:0060228 phosphatidylcholine-sterol O-acyltransferase activator activity
GO:0070326 very-low-density lipoprotein particle receptor binding
GO:0071813 lipoprotein particle binding
Biological Process
GO:0000302 response to reactive oxygen species
GO:0001523 retinoid metabolic process
GO:0001937 negative regulation of endothelial cell proliferation
GO:0002021 response to dietary excess
GO:0006629 lipid metabolic process
GO:0006641 triglyceride metabolic process
GO:0006707 cholesterol catabolic process
GO:0006869 lipid transport
GO:0006874 cellular calcium ion homeostasis
GO:0006898 receptor-mediated endocytosis
GO:0006979 response to oxidative stress
GO:0007010 cytoskeleton organization
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007263 nitric oxide mediated signal transduction
GO:0007271 synaptic transmission, cholinergic
GO:0007568 aging
GO:0007603 phototransduction, visible light
GO:0008203 cholesterol metabolic process
GO:0008219 cell death
GO:0010468 regulation of gene expression
GO:0010544 negative regulation of platelet activation
GO:0010873 positive regulation of cholesterol esterification
GO:0010875 positive regulation of cholesterol efflux
GO:0014012 peripheral nervous system axon regeneration
GO:0015909 long-chain fatty acid transport
GO:0017038 protein import
GO:0019934 cGMP-mediated signaling
GO:0030195 negative regulation of blood coagulation
GO:0030516 regulation of axon extension
GO:0030828 positive regulation of cGMP biosynthetic process
GO:0032489 regulation of Cdc42 protein signal transduction
GO:0032526 response to retinoic acid
GO:0032805 positive regulation of low-density lipoprotein particle receptor catabolic process
GO:0032868 response to insulin
GO:0033344 cholesterol efflux
GO:0033700 phospholipid efflux
GO:0034372 very-low-density lipoprotein particle remodeling
GO:0034374 low-density lipoprotein particle remodeling
GO:0034375 high-density lipoprotein particle remodeling
GO:0034380 high-density lipoprotein particle assembly
GO:0034382 chylomicron remnant clearance
GO:0034384 high-density lipoprotein particle clearance
GO:0034447 very-low-density lipoprotein particle clearance
GO:0042157 lipoprotein metabolic process
GO:0042158 lipoprotein biosynthetic process
GO:0042159 lipoprotein catabolic process
GO:0042311 vasodilation
GO:0042632 cholesterol homeostasis
GO:0043407 negative regulation of MAP kinase activity
GO:0043524 negative regulation of neuron apoptotic process
GO:0043537 negative regulation of blood vessel endothelial cell migration
GO:0043691 reverse cholesterol transport
GO:0044281 small molecule metabolic process
GO:0045471 response to ethanol
GO:0045541 negative regulation of cholesterol biosynthetic process
GO:0045773 positive regulation of axon extension
GO:0046889 positive regulation of lipid biosynthetic process
GO:0046907 intracellular transport
GO:0048168 regulation of neuronal synaptic plasticity
GO:0048709 oligodendrocyte differentiation
GO:0048844 artery morphogenesis
GO:0050728 negative regulation of inflammatory response
GO:0051000 positive regulation of nitric-oxide synthase activity
GO:0051044 positive regulation of membrane protein ectodomain proteolysis
GO:0051055 negative regulation of lipid biosynthetic process
GO:0051651 maintenance of location in cell
GO:0055088 lipid homeostasis
GO:0055089 fatty acid homeostasis
GO:0060999 positive regulation of dendritic spine development
GO:0061000 negative regulation of dendritic spine development
GO:0071347 cellular response to interleukin-1
GO:0071363 cellular response to growth factor stimulus
GO:0071397 cellular response to cholesterol
GO:0072358 cardiovascular system development
GO:0090370 negative regulation of cholesterol efflux
GO:0097113 alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering
GO:0097114 N-methyl-D-aspartate receptor clustering
GO:1900221 regulation of beta-amyloid clearance
GO:1901214 regulation of neuron death
GO:1901215 negative regulation of neuron death
GO:1901216 positive regulation of neuron death
GO:1901627 negative regulation of postsynaptic membrane organization
GO:1901628 positive regulation of postsynaptic membrane organization
GO:1901630 negative regulation of presynaptic membrane organization
GO:1901631 positive regulation of presynaptic membrane organization
GO:1902004 positive regulation of beta-amyloid formation
GO:1902430 negative regulation of beta-amyloid formation
GO:1902947 regulation of tau-protein kinase activity
GO:1902951 negative regulation of dendritic spine maintenance
GO:1902952 positive regulation of dendritic spine maintenance
GO:1902995 positive regulation of phospholipid efflux
GO:1902998 positive regulation of neurofibrillary tangle assembly
GO:1902999 negative regulation of phospholipid efflux
GO:1903001 negative regulation of lipid transport across blood brain barrier
GO:1903002 positive regulation of lipid transport across blood brain barrier
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005635 nuclear envelope
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005768 endosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005874 microtubule
GO:0005886 plasma membrane
GO:0009986 cell surface
GO:0016020 membrane
GO:0030425 dendrite
GO:0031232 extrinsic component of external side of plasma membrane
GO:0034361 very-low-density lipoprotein particle
GO:0034362 low-density lipoprotein particle
GO:0034363 intermediate-density lipoprotein particle
GO:0034364 high-density lipoprotein particle
GO:0034365 discoidal high-density lipoprotein particle
GO:0042627 chylomicron
GO:0043025 neuronal cell body
GO:0070062 extracellular vesicular exosome
GO:0071682 endocytic vesicle lumen
GO:0072562 blood microparticle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Metabolism of lipids and lipoproteins pathway
Retinoid metabolism and transport pathway
Binding and Uptake of Ligands by Scavenger Receptors pathway
Signal Transduction pathway
Scavenging by Class A Receptors pathway
HDL-mediated lipid transport pathway
Diseases associated with visual transduction pathway
Visual phototransduction pathway
Lipoprotein metabolism pathway
Metabolism pathway
Lipid digestion, mobilization, and transport pathway
Disease pathway
Chylomicron-mediated lipid transport pathway
KEGG
Alzheimer's disease pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000041 XM_005258867
HUGO
OMIM
CCDS CCDS12647
HPRD 00135
IMGT
EMBL
GenPept
RNA Seq Atlas