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    APOE apolipoprotein E [ Homo sapiens (human) ]

    Gene ID: 348, updated on 28-Nov-2021

    Summary

    Official Symbol
    APOEprovided by HGNC
    Official Full Name
    apolipoprotein Eprovided by HGNC
    Primary source
    HGNC:HGNC:613
    See related
    Ensembl:ENSG00000130203 MIM:107741
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AD2; LPG; APO-E; ApoE4; LDLCQ5
    Summary
    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]
    Expression
    Biased expression in liver (RPKM 1021.7), kidney (RPKM 648.1) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOE in Genome Data Viewer
    Location:
    19q13.32
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (44905796..44909393)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45409053..45412650)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene nectin cell adhesion molecule 2 Neighboring gene translocase of outer mitochondrial membrane 40 Neighboring gene APOC1 promoter region Neighboring gene apolipoprotein C1 Neighboring gene apolipoprotein C1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.
    GeneReviews: Not available
    A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.
    GeneReviews: Not available
    A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
    GeneReviews: Not available
    A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.
    GeneReviews: Not available
    ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.
    GeneReviews: Not available
    Age-related macular degeneration 1
    MedGen: C1864205 OMIM: 603075 GeneReviews: Not available
    Compare labs
    Alzheimer disease 2
    MedGen: C1863051 OMIM: 104310 GeneReviews: Not available
    Compare labs
    Alzheimer disease, type 3
    MedGen: C1843013 OMIM: 607822 GeneReviews: Alzheimer Disease Overview
    Compare labs
    Alzheimer disease, type 4
    MedGen: C1847200 OMIM: 606889 GeneReviews: Alzheimer Disease Overview
    Compare labs
    An atlas of genetic influences on human blood metabolites.
    GeneReviews: Not available
    APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.
    GeneReviews: Not available
    Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore?
    GeneReviews: Not available
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.
    GeneReviews: Not available
    Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13.
    GeneReviews: Not available
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Examination of the current top candidate genes for AD in a genome-wide association study.
    GeneReviews: Not available
    Familial type 3 hyperlipoproteinemia
    MedGen: C0020479 OMIM: 617347 GeneReviews: Not available
    Compare labs
    Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels.
    GeneReviews: Not available
    Genetic determinants of statin-induced low-density lipoprotein cholesterol reduction: the Justification for the Use of Statins in Prevention: an Intervention Trial Evaluating Rosuvastatin (JUPITER) trial.
    GeneReviews: Not available
    Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.
    GeneReviews: Not available
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    GeneReviews: Not available
    Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
    GeneReviews: Not available
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide analysis of genetic loci associated with Alzheimer disease.
    GeneReviews: Not available
    Genome-wide association analysis of age-at-onset in Alzheimer's disease.
    GeneReviews: Not available
    Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
    GeneReviews: Not available
    Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
    GeneReviews: Not available
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    GeneReviews: Not available
    Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited.
    GeneReviews: Not available
    Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
    GeneReviews: Not available
    Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease.
    GeneReviews: Not available
    Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
    GeneReviews: Not available
    Genome-wide association study of Alzheimer's disease with psychotic symptoms.
    GeneReviews: Not available
    Genome-wide association study of Alzheimer's disease.
    GeneReviews: Not available
    Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort.
    GeneReviews: Not available
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    GeneReviews: Not available
    Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
    GeneReviews: Not available
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    GeneReviews: Not available
    GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease.
    GeneReviews: Not available
    High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE.
    GeneReviews: Not available
    Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
    GeneReviews: Not available
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    GeneReviews: Not available
    Lipoprotein glomerulopathy
    MedGen: C2673196 OMIM: 611771 GeneReviews: Not available
    Compare labs
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    GeneReviews: Not available
    Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.
    GeneReviews: Not available
    Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study.
    GeneReviews: Not available
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    GeneReviews: Not available
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    GeneReviews: Not available
    Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.
    GeneReviews: Not available
    Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.
    GeneReviews: Not available
    Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
    GeneReviews: Not available
    Sea-blue histiocyte syndrome
    MedGen: C0036489 OMIM: 269600 GeneReviews: Not available
    Compare labs
    Seven new loci associated with age-related macular degeneration.
    GeneReviews: Not available
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    GeneReviews: Not available
    Sorl1 as an Alzheimer's disease predisposition gene?
    GeneReviews: Not available
    SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.
    GeneReviews: Not available
    SUCLG2 identified as both a determinator of CSF Aß1-42-levels and an attenuator of cognitive decline in Alzheimer's disease.
    GeneReviews: Not available
    The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 causes increased neurotoxicity in human neuronal cultures with the ApoE4 allele PubMed
    Tat tat Binding of HIV-1 Tat to LRP inhibits neuronal binding, uptake and degradation of physiological ligands for LRP, including alpha2-macroglobulin, apolipoprotein E4, amyloid precursor and amyloid beta-protein PubMed
    tat The antioxidant properties of human lipidated apoE3 protects neurons from Tat-induced toxicity PubMed
    Vpr vpr Treatment of human primary astrocytes with HIV-1 Vpr upregulates expression of six genes, APOE, CCL5, DGKK, GPX5, NOS2, and PXDNL PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC1571

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables amyloid-beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables amyloid-beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables antioxidant activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cholesterol transfer activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparan sulfate proteoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipoprotein particle binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables low-density lipoprotein particle receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables metal chelating activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylcholine-sterol O-acyltransferase activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein dimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural molecule activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables tau protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables very-low-density lipoprotein particle receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables very-low-density lipoprotein particle receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables very-low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within_positive_effect AMPA glutamate receptor clustering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within_positive_effect NMDA glutamate receptor clustering IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amyloid precursor protein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cGMP-mediated signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular oxidant detoxification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in cholesterol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in chylomicron remnant clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chylomicron remnant clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cytoskeleton organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in fatty acid homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in high-density lipoprotein particle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in high-density lipoprotein particle clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in high-density lipoprotein particle remodeling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in intermediate-density lipoprotein particle clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in lipid transport involved in lipid storage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lipoprotein biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipoprotein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in locomotory exploration behavior IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in long-chain fatty acid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in long-term memory IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in low-density lipoprotein particle remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of location in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of MAP kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of amyloid fibril formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of amyloid-beta formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of blood coagulation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of blood vessel endothelial cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of canonical Wnt signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of cellular protein metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in negative regulation of cholesterol biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of endothelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of inflammatory response IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of long-term synaptic potentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of neuron apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of platelet activation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of negative regulation of smooth muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of triglyceride metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nitric oxide mediated signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phospholipid efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation by host of viral process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of amyloid fibril formation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of amyloid-beta clearance ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cholesterol efflux IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of cholesterol esterification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of dendritic spine development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within positive regulation of dendritic spine maintenance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of heparan sulfate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of heparan sulfate proteoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lipid biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of lipid transport across blood-brain barrier IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of low-density lipoprotein particle receptor catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of membrane protein ectodomain proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of membrane protein ectodomain proteolysis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of nitric-oxide synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of nitric-oxide synthase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phospholipid efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor-mediated endocytosis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of Cdc42 protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of amyloid precursor protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of amyloid-beta clearance IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of amyloid-beta clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of axon extension TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of behavioral fear response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cellular response to very-low-density lipoprotein particle stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of cholesterol metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of innate immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of neuronal synaptic plasticity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of proteasomal protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of protein metabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in regulation of protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to caloric restriction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to reactive oxygen species NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in reverse cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in triglyceride homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in triglyceride metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in triglyceride metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in triglyceride-rich lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in very-low-density lipoprotein particle clearance IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle remodeling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in virion assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in blood microparticle HDA PubMed 
    part_of chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in cytoplasm NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in dendrite NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of discoidal high-density lipoprotein particle TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in early endosome TAS
    Traceable Author Statement
    more info
     
    located_in endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space HDA PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular vesicle HDA PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of high-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of intermediate-density lipoprotein particle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of intermediate-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in neuronal cell body NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus HDA PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in synaptic cleft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    apolipoprotein E
    Names
    apolipoprotein E3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007084.2 RefSeqGene

      Range
      5015..8612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000041.4NP_000032.1  apolipoprotein E isoform b precursor

      See identical proteins and their annotated locations for NP_000032.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3, 4 and 5 all encode isoform b.
      Source sequence(s)
      BC003557, HY056112
      Consensus CDS
      CCDS12647.1
      UniProtKB/Swiss-Prot
      P02649
      UniProtKB/TrEMBL
      A0A0S2Z3D5
      Related
      ENSP00000252486.3, ENST00000252486.9
      Conserved Domains (1) summary
      pfam01442
      Location:86266
      Apolipoprotein; Apolipoprotein A1/A4/E domain
    2. NM_001302688.2NP_001289617.1  apolipoprotein E isoform a precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      BC003557, BM042032, HY056112
      UniProtKB/Swiss-Prot
      P02649
      Conserved Domains (1) summary
      pfam01442
      Location:112292
      Apolipoprotein; Apolipoprotein A1/A4/E domain
    3. NM_001302689.2NP_001289618.1  apolipoprotein E isoform b precursor

      See identical proteins and their annotated locations for NP_001289618.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3, 4 and 5 all encode isoform b.
      Source sequence(s)
      BC003557, DB486513, HY074384
      Consensus CDS
      CCDS12647.1
      UniProtKB/Swiss-Prot
      P02649
      UniProtKB/TrEMBL
      A0A0S2Z3D5
      Conserved Domains (1) summary
      pfam01442
      Location:86266
      Apolipoprotein; Apolipoprotein A1/A4/E domain
    4. NM_001302690.2NP_001289619.1  apolipoprotein E isoform b precursor

      See identical proteins and their annotated locations for NP_001289619.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate 5' terminal exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3, 4 and 5 all encode isoform b.
      Source sequence(s)
      BC003557, CA771535, HY074888
      Consensus CDS
      CCDS12647.1
      UniProtKB/Swiss-Prot
      P02649
      UniProtKB/TrEMBL
      A0A0S2Z3D5
      Conserved Domains (1) summary
      pfam01442
      Location:86266
      Apolipoprotein; Apolipoprotein A1/A4/E domain
    5. NM_001302691.2NP_001289620.1  apolipoprotein E isoform b precursor

      See identical proteins and their annotated locations for NP_001289620.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate 5' terminal exon and uses an alternate splice site in another 5' exon, and it thus differs in the 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Variants 2, 3, 4 and 5 all encode isoform b.
      Source sequence(s)
      BC003557, BI550631
      Consensus CDS
      CCDS12647.1
      UniProtKB/Swiss-Prot
      P02649
      UniProtKB/TrEMBL
      A0A0S2Z3D5
      Conserved Domains (1) summary
      pfam01442
      Location:86266
      Apolipoprotein; Apolipoprotein A1/A4/E domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      44905796..44909393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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