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APOE apolipoprotein E [ Homo sapiens (human) ]

Gene ID: 348, updated on 10-Dec-2024

Summary

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Official Symbol: APOEprovided by HGNC
Official Full Name: apolipoprotein Eprovided by HGNC
Primary source: HGNC:HGNC:613
See related: Ensembl:ENSG00000130203 MIM:107741; AllianceGenome:HGNC:613
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: mouse all
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Genomic context

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See APOE in Genome Data Viewer

Location:: 19q13.32

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (44905796..44909393)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (47730492..47734089)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (45409053..45412650)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Impact of work type and APOE-e4 status on cognitive functioning in older women.
Title: Impact of work type and APOE-e4 status on cognitive functioning in older women.
APOE expression in papillary thyroid carcinoma: Influencing tumor progression and macrophage polarization.
Title: APOE expression in papillary thyroid carcinoma: Influencing tumor progression and macrophage polarization.
APOE epsilon4-associated downregulation of the IL-7/IL-7R pathway in effector memory T cells: Implications for Alzheimer's disease.
Title: APOE ε4-associated downregulation of the IL-7/IL-7R pathway in effector memory T cells: Implications for Alzheimer's disease.
Obesity affects brain cortex gene expression in an APOE genotype and sex dependent manner.
Title: Obesity affects brain cortex gene expression in an APOE genotype and sex dependent manner.
APOE gene polymorphism in ischemic stroke patients from Huizhou and its correlation with blood lipids and homocysteine.
Title: APOE gene polymorphism in ischemic stroke patients from Huizhou and its correlation with blood lipids and homocysteine.
Sex-dependent APOE4 neutrophil-microglia interactions drive cognitive impairment in Alzheimer's disease.
Title: Sex-dependent APOE4 neutrophil-microglia interactions drive cognitive impairment in Alzheimer's disease.
APOExBDNF Interaction and Poorer Cognitive Outcomes Among Veterans With Mild Traumatic Brain Injury: An Exploratory Study.
Title: APOE×BDNF Interaction and Poorer Cognitive Outcomes Among Veterans With Mild Traumatic Brain Injury: An Exploratory Study.
APOE epsilon4 carrier status modifies plasma p-tau181 concentrations in cognitively healthy super-seniors.
Title: APOE ε4 carrier status modifies plasma p-tau181 concentrations in cognitively healthy super-seniors.
Association analyses of apolipoprotein E genotypes and cognitive performance in patients with Parkinson's disease.
Title: Association analyses of apolipoprotein E genotypes and cognitive performance in patients with Parkinson's disease.
Identification of a specific APOE transcript and functional elements associated with Alzheimer's disease.
Title: Identification of a specific APOE transcript and functional elements associated with Alzheimer's disease.

Submit: New GeneRIF Correction See all GeneRIFs (3373)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Age related macular degeneration 1 MedGen: C1864205 OMIM: 603075 GeneReviews: Not available	not available
Alzheimer disease 2 MedGen: C1863051 OMIM: 104310 GeneReviews: Not available	not available
Alzheimer disease 3 MedGen: C1843013 OMIM: 607822 GeneReviews: Alzheimer Disease Overview	not available
Alzheimer disease 4 MedGen: C1847200 OMIM: 606889 GeneReviews: Alzheimer Disease Overview	not available
Familial type 3 hyperlipoproteinemia MedGen: C0020479 OMIM: 617347 GeneReviews: Not available	not available
Lipoprotein glomerulopathy MedGen: C2673196 OMIM: 611771 GeneReviews: Not available	not available
Sea-blue histiocyte syndrome MedGen: C0036489 OMIM: 269600 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide scan for common variants affecting the rate of age-related cognitive decline. EBI GWAS Catalog EBI GWAS CatalogPubMed
A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. EBI GWAS Catalog EBI GWAS CatalogPubMed
An atlas of genetic influences on human blood metabolites. EBI GWAS Catalog EBI GWAS CatalogPubMed
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Are C-reactive protein associated genetic variants associated with serum levels and retinal markers of microvascular pathology in Asian populations from Singapore? EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common SNPs in HMGCR in micronesians and whites associated with LDL-cholesterol levels affect alternative splicing of exon13. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Examination of the current top candidate genes for AD in a genome-wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic association with lipids in Filipinos: waist circumference modifies an APOA5 effect on triglyceride levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of genetic loci associated with Alzheimer disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of age-at-onset in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies a single major locus contributing to survival into old age; the APOE locus revisited. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Alzheimer's disease with psychotic symptoms. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan of copy number variation in late-onset Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
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. EBI GWAS Catalog EBI GWAS CatalogPubMed
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
High density GWAS for LDL cholesterol in African Americans using electronic medical records reveals a strong protective variant in APOE. EBI GWAS Catalog EBI GWAS CatalogPubMed
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies. EBI GWAS Catalog EBI GWAS CatalogPubMed
Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. EBI GWAS Catalog EBI GWAS CatalogPubMed
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. EBI GWAS Catalog EBI GWAS CatalogPubMed
Seven new loci associated with age-related macular degeneration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Sorl1 as an Alzheimer's disease predisposition gene? EBI GWAS Catalog EBI GWAS CatalogPubMed
SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians. EBI GWAS Catalog EBI GWAS CatalogPubMed
SUCLG2 identified as both a determinator of CSF Aß1-42-levels and an attenuator of cognitive decline in Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:433407 (e-PCR)
- UniSTS:157196

PMC99927P2 (e-PCR)
- UniSTS:273705

D19S571 (e-PCR)
- UniSTS:21058

GDB:438097 (e-PCR)
- UniSTS:157265

STS-N29699 (e-PCR)
- UniSTS:34644

GDB:178385 (e-PCR)
- UniSTS:154995

STS-K00396 (e-PCR)
- UniSTS:64138

GDB:169570 (e-PCR)
- UniSTS:154765

GDB:171177 (e-PCR)
- UniSTS:154776

GDB:181631 (e-PCR)
- UniSTS:155318

PMC310963P1 (e-PCR)
- UniSTS:272824

PMC310963P2 (e-PCR)
- UniSTS:272825

PMC310963P3 (e-PCR)
- UniSTS:272826

PMC310963P4 (e-PCR)
- UniSTS:272827

GDB:181693 (e-PCR)
- UniSTS:155329

RH11470 (e-PCR)
- UniSTS:72925

PMC117303P1 (e-PCR)
- UniSTS:270328

GDB:177380 (e-PCR)
- UniSTS:154875

GDB:196979 (e-PCR)
- UniSTS:155901

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
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	IBA Inferred from Biological aspect of Ancestor more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
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	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	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylcholine-sterol O-acyltransferase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
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	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
enables receptor ligand activity	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	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 acylglycerol homeostasis	IBA Inferred from Biological aspect of Ancestor more info
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 cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipoprotein particle stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cholesterol catabolic process	IEA Inferred from Electronic Annotation more info
involved_in cholesterol efflux	IBA Inferred from Biological aspect of Ancestor more info
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	IBA Inferred from Biological aspect of Ancestor more info
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 intracellular calcium ion homeostasis	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	IEA Inferred from Electronic Annotation more info
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 melanosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
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 cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of dendritic spine development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within negative regulation of dendritic spine maintenance	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	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of lipid transport across blood-brain barrier	IDA Inferred from Direct Assay 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 projection development	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of phospholipid efflux	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 postsynaptic membrane organization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein metabolic process	IGI Inferred from Genetic Interaction 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-cGMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid efflux	IBA Inferred from Biological aspect of Ancestor more info
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 CoA-transferase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	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 amyloid-beta formation	IDA Inferred from Direct Assay more info	PubMed
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 metabolic process	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 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 lipoprotein transport	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 neurofibrillary tangle assembly	IDA Inferred from Direct Assay 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 biosynthetic process	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 presynaptic membrane organization	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
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 more info	PubMed
part_of chylomicron	IBA Inferred from Biological aspect of Ancestor more info
part_of chylomicron	IDA Inferred from Direct Assay more info	PubMed
part_of chylomicron remnant	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 more info	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 more info	PubMed
located_in extracellular exosome	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	HDA more info	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 more info	PubMed
is_active_in extracellular space	IDA Inferred from Direct Assay more info	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 more info	PubMed
is_active_in extracellular vesicle	IBA Inferred from Biological aspect of Ancestor more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
part_of high-density lipoprotein particle	IBA Inferred from Biological aspect of Ancestor more info
part_of high-density lipoprotein particle	IDA Inferred from Direct Assay 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	IBA Inferred from Biological aspect of Ancestor more info
part_of low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
located_in melanosome	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in multivesicular body, internal vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	NAS Non-traceable Author Statement more info	PubMed
located_in nucleus	HDA more info	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	IBA Inferred from Biological aspect of Ancestor more info
part_of very-low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: apolipoprotein E

Names: apolipoprotein E3

NCBI Reference Sequences (RefSeq)

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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

NG_007084.2 RefSeqGene

Range

5015..8612

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000041.4 → NP_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

B2RC15, C0JYY5, P02649, Q9P2S4

UniProtKB/TrEMBL

A0A0S2Z3D5

Related

ENSP00000252486.3, ENST00000252486.9

Conserved Domains (1) summary

pfam01442
Location:86 → 266

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001302688.2 → NP_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:112 → 292

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001302689.2 → NP_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

B2RC15, C0JYY5, P02649, Q9P2S4

UniProtKB/TrEMBL

A0A0S2Z3D5

Conserved Domains (1) summary

pfam01442
Location:86 → 266

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001302690.2 → NP_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

B2RC15, C0JYY5, P02649, Q9P2S4

UniProtKB/TrEMBL

A0A0S2Z3D5

Conserved Domains (1) summary

pfam01442
Location:86 → 266

Apolipoprotein; Apolipoprotein A1/A4/E domain
NM_001302691.2 → NP_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

B2RC15, C0JYY5, P02649, Q9P2S4

UniProtKB/TrEMBL

A0A0S2Z3D5

Conserved Domains (1) summary

pfam01442
Location:86 → 266

Apolipoprotein; Apolipoprotein A1/A4/E domain