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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Candidate cardiovascular disease genes Disease related genes Human disease related genes Metabolic proteins Plasma proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
19
Cytoband
q13.32
Chromosome location (bp)
44905791 - 44909393
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
APOE is an apolipoprotein, a protein associating with lipid particles, that mainly functions in lipoprotein-mediated lipid transport between organs via the plasma and interstitial fluids 1,2,3. APOE is a core component of plasma lipoproteins and is involved in their production, conversion and clearance 4,5,6,7,8,9,10. Apolipoproteins are amphipathic molecules that interact both with lipids of the lipoprotein particle core and the aqueous environment of the plasma 11,12,13. As such, APOE associates with chylomicrons, chylomicron remnants, very low density lipoproteins (VLDL) and intermediate density lipoproteins (IDL) but shows a preferential binding to high-density lipoproteins (HDL) 14,15. It also binds a wide range of cellular receptors including the LDL receptor/LDLR, the LDL receptor-related proteins LRP1, LRP2 and LRP8 and the very low-density lipoprotein receptor/VLDLR that mediate the cellular uptake of the APOE-containing lipoprotein particles 16,17,18,19,20,21,22,23,24,25,26. Finally, APOE has also a heparin-binding activity and binds heparan-sulfate proteoglycans on the surface of cells, a property that supports the capture and the receptor-mediated uptake of APOE-containing lipoproteins by cells 27,28,29,30. A main function of APOE is to mediate lipoprotein clearance through the uptake of chylomicrons, VLDLs, and HDLs by hepatocytes 31,32,33,34,35. APOE is also involved in the biosynthesis by the liver of VLDLs as well as their uptake by peripheral tissues ensuring the delivery of triglycerides and energy storage in muscle, heart and adipose tissues 36,37. By participating in the lipoprotein-mediated distribution of lipids among tissues, APOE plays a critical role in plasma and tissues lipid homeostasis 38,39,40. APOE is also involved in two steps of reverse cholesterol transport, the HDLs-mediated transport of cholesterol from peripheral tissues to the liver, and thereby plays an important role in cholesterol homeostasis 41,42,43. First, it is functionally associated with ABCA1 in the biogenesis of HDLs in tissues 44,45. Second, it is enriched in circulating HDLs and mediates their uptake by hepatocytes 46. APOE also plays an important role in lipid transport in the central nervous system, regulating neuron survival and sprouting 47,48. APOE is also involved in innate and adaptive immune responses, controlling for instance the survival of myeloid-derived suppressor cells (By similarity). Binds to the immune cell receptor LILRB4 49. APOE may also play a role in transcription regulation through a receptor-dependent and cholesterol-independent mechanism, that activates MAP3K12 and a non-canonical MAPK signal transduction pathway that results in enhanced AP-1-mediated transcription of APP 50....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Heparin-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A0A0S2Z3D5 [Target identity:100%; Query identity:100%] Apolipoprotein E isoform 1
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Metabolic proteins MEMSAT3 predicted membrane proteins Predicted secreted proteins Secreted proteins predicted by MDSEC SignalP predicted secreted proteins Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins DeepTMHMM predicted secreted proteins DeepSig predicted secreted proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Candidate cardiovascular disease genes Disease related genes Human disease related genes Congenital disorders of metabolism Congenital disorders of lipid/glycolipid metabolism Other congenital disorders of metabolism Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000302[response to reactive oxygen species] GO:0001540[amyloid-beta binding] GO:0001937[negative regulation of endothelial cell proliferation] GO:0002021[response to dietary excess] GO:0005102[signaling receptor binding] GO:0005198[structural molecule activity] GO:0005319[lipid transporter activity] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005771[multivesicular body] GO:0005783[endoplasmic reticulum] GO:0005788[endoplasmic reticulum lumen] GO:0005794[Golgi apparatus] GO:0005886[plasma membrane] 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:0007616[long-term memory] GO:0008201[heparin binding] GO:0008202[steroid metabolic process] GO:0008203[cholesterol metabolic process] GO:0008289[lipid binding] GO:0010467[gene expression] GO:0010468[regulation of gene expression] GO:0010544[negative regulation of platelet activation] GO:0010596[negative regulation of endothelial cell migration] GO:0010629[negative regulation of gene expression] GO:0010875[positive regulation of cholesterol efflux] GO:0010877[lipid transport involved in lipid storage] GO:0010976[positive regulation of neuron projection development] GO:0010977[negative regulation of neuron projection development] GO:0015909[long-chain fatty acid transport] GO:0016020[membrane] GO:0016209[antioxidant activity] GO:0017038[protein import] GO:0019068[virion assembly] GO:0019899[enzyme binding] GO:0019934[cGMP-mediated signaling] GO:0030195[negative regulation of blood coagulation] GO:0030425[dendrite] GO:0030516[regulation of axon extension] GO:0030669[clathrin-coated endocytic vesicle membrane] GO:0031012[extracellular matrix] GO:0031175[neuron projection development] GO:0032438[melanosome organization] GO:0032489[regulation of Cdc42 protein signal transduction] GO:0032805[positive regulation of low-density lipoprotein particle receptor catabolic process] GO:0033344[cholesterol efflux] GO:0033700[phospholipid efflux] 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: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:0035641[locomotory exploration behavior] GO:0042157[lipoprotein metabolic process] GO:0042158[lipoprotein biosynthetic process] GO:0042159[lipoprotein catabolic process] GO:0042311[vasodilation] GO:0042470[melanosome] GO:0042627[chylomicron] GO:0042632[cholesterol homeostasis] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042981[regulation of apoptotic process] GO:0042982[amyloid precursor protein metabolic process] GO:0043025[neuronal cell body] GO:0043083[synaptic cleft] GO:0043254[regulation of protein-containing complex assembly] GO:0043395[heparan sulfate proteoglycan binding] 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:0044794[positive regulation by host of viral process] GO:0044877[protein-containing complex binding] GO:0045088[regulation of innate immune response] GO:0045541[negative regulation of cholesterol biosynthetic process] GO:0045807[positive regulation of endocytosis] GO:0045893[positive regulation of DNA-templated transcription] GO:0046889[positive regulation of lipid biosynthetic process] GO:0046907[intracellular transport] GO:0046911[metal chelating activity] GO:0046983[protein dimerization activity] GO:0048156[tau protein binding] GO:0048168[regulation of neuronal synaptic plasticity] GO:0048662[negative regulation of smooth muscle cell proliferation] GO:0048844[artery morphogenesis] GO:0050709[negative regulation of protein secretion] GO:0050728[negative regulation of inflammatory response] GO:0050750[low-density lipoprotein particle receptor binding] GO:0050807[regulation of synapse organization] GO:0051000[positive regulation of nitric-oxide synthase activity] GO:0051044[positive regulation of membrane protein ectodomain proteolysis] GO:0051246[regulation of protein metabolic process] GO:0051248[negative regulation of protein metabolic process] GO:0051651[maintenance of location in cell] GO:0055088[lipid homeostasis] GO:0055089[fatty acid homeostasis] GO:0060228[phosphatidylcholine-sterol O-acyltransferase activator activity] GO:0060999[positive regulation of dendritic spine development] GO:0061136[regulation of proteasomal protein catabolic process] GO:0061771[response to caloric restriction] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:0070326[very-low-density lipoprotein particle receptor binding] GO:0070328[triglyceride homeostasis] GO:0070374[positive regulation of ERK1 and ERK2 cascade] GO:0071682[endocytic vesicle lumen] GO:0071813[lipoprotein particle binding] GO:0071830[triglyceride-rich lipoprotein particle clearance] GO:0071831[intermediate-density lipoprotein particle clearance] GO:0072359[circulatory system development] GO:0072562[blood microparticle] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:0090181[regulation of cholesterol metabolic process] GO:0090205[positive regulation of cholesterol metabolic process] GO:0090209[negative regulation of triglyceride metabolic process] GO:0097006[regulation of plasma lipoprotein particle levels] GO:0097113[AMPA glutamate receptor clustering] GO:0097114[NMDA glutamate receptor clustering] GO:0097487[multivesicular body, internal vesicle] GO:0098869[cellular oxidant detoxification] GO:0098978[glutamatergic synapse] GO:0120009[intermembrane lipid transfer] GO:0120020[cholesterol transfer activity] GO:1900221[regulation of amyloid-beta clearance] GO:1900223[positive regulation of amyloid-beta clearance] GO:1900272[negative regulation of long-term synaptic potentiation] GO:1902430[negative regulation of amyloid-beta formation] GO:1902952[positive regulation of dendritic spine maintenance] GO:1902991[regulation of amyloid precursor protein catabolic process] GO:1902995[positive regulation of phospholipid efflux] GO:1903002[positive regulation of lipid transport across blood-brain barrier] GO:1903561[extracellular vesicle] GO:1905855[positive regulation of heparan sulfate binding] GO:1905860[positive regulation of heparan sulfate proteoglycan binding] GO:1905890[regulation of cellular response to very-low-density lipoprotein particle stimulus] GO:1905906[regulation of amyloid fibril formation] GO:1905907[negative regulation of amyloid fibril formation] GO:1905908[positive regulation of amyloid fibril formation] GO:1905920[positive regulation of CoA-transferase activity] GO:1990777[lipoprotein particle] GO:2000822[regulation of behavioral fear response]