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APOE apolipoprotein E [ Homo sapiens (human) ]

Gene ID: 348, updated on 16-Jun-2013

Summary

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Official Symbol: APOEprovided by HGNC
Official Full Name: apolipoprotein Eprovided by HGNC
Primary source: HGNC:613
See related: Ensembl:ENSG00000130203; HPRD:00135; MIM:107741; Vega:OTTHUMG00000128901
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; LDLCQ5
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]

Genomic context

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Location :: 19q13.2

Sequence :: Chromosome: 19; NC_000019.9 (45409039..45412650)

See APOE in Epigenomics, MapViewer

Chromosome 19 - NC_000019.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Circulating apo-E predicted in both genders age-adjusted prevalent and incident coronary heart disease (CHD), independent of apo-E genotype and C-reactive protein (OR 1.32 [95 % CI 1.11; 1.58]).
Title: High serum apolipoprotein E determines hypertriglyceridemic dyslipidemias, coronary disease and apoA-I dysfunctionality.
APOE4 genotype is associated with the severity of axonal injury in acute traumatic brain injury.
Title: Human apolipoprotein E4 worsens acute axonal pathology but not amyloid-β immunoreactivity after traumatic brain injury in 3xTG-AD mice.
A novel cleavage event of ApoE4 generates an amino-terminal fragment that localizes within neurofibrillary tangles of the Alzheimer's disease brain.
Title: Identification of an amino-terminal fragment of apolipoprotein E4 that localizes to neurofibrillary tangles of the Alzheimer's disease brain.
The association of vitamin B12 status with cognitive test performance is stronger in the presence of the ApoE epsilon4 allele.
Title: Cognitive function in an elderly population: interaction between vitamin B12 status, depression, and apolipoprotein E ε4: the Hordaland Homocysteine Study.
rs769446 is a functional polymorphism involved in the regulation of the plasma APOE concentration.
Title: Identification of a functional apolipoprotein E promoter polymorphism regulating plasma apolipoprotein E concentration.
ApoE is increased in Parkinson's patients' cerebrospinal fluid relative to normal controls.
Title: Cerebrospinal fluid biomarkers of neuropathologically diagnosed Parkinson's disease subjects.
APOE epsilon3/epsilon4 group may have a different off-line memory consolidation process compared to epsilon2/epsilon3 group.
Title: Effects of apolipoprotein E genotype on the off-line memory consolidation.
diabetes-induced proinflammatory changes in the vasculature and the hLDLR-mediated cholesterol accumulation in macrophages synergistically trigger atherosclerosis in mice with human apoE4, although neither alone is sufficient.
Title: Diabetic atherosclerosis in APOE*4 mice: synergy between lipoprotein metabolism and vascular inflammation.
Transgenic mice bred on a human APOE2 background show reduced levels of cerebral amyloid angiopathy and emergence of parenchymal plaque amyloid.
Title: Human apolipoprotein E2 promotes parenchymal amyloid deposition and neuronal loss in vasculotropic mutant amyloid-β protein Tg-SwDI mice.
The number of epsilon4 alleles was related to hippocampal volumes in mild cognitive impairment, and this may explain the relationship between ApoE genotype and some aspects of memory performance.
Title: Associative recognition in mild cognitive impairment: relationship to hippocampal volume and apolipoprotein E.

Submit: New GeneRIF Correction See all (1383)

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

Age-related macular degeneration 1

MIM: 603075

Genetic Testing Registry

Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., >/=2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years).

Diagnosis Testing

Establishing the diagnosis of Alzheimer disease relies on clinical-neuropathologic assessment. Neuropathologic findings of beta-amyloid plaques and intraneuronal neurofibrillary tangles remain the gold standard for diagnosis. The clinical diagnosis of AD, based on signs of slowly progressive dementia and findings of gross cerebral cortical atrophy on neuroimaging, is correct approximately 80%-90% of the time. The association of the APOE e4 allele with AD is significant; however, APOE genotyping is neither fully specific nor sensitive. While APOE genotyping may have an adjunct role in the diagnosis of AD in symptomatic individuals, it appears to have little role at this time in predictive testing of asymptomatic individuals. Three forms of early-onset familial AD (EOFAD) caused by mutations in one of three genes (APP, PSEN1, PSEN2) are recognized.

Genetic Counseling

Because AD is genetically heterogeneous, genetic counseling of persons with AD and their family members must be tailored to the information available for that family. It should be pointed out that AD is common and that the overall lifetime risk for any individual of developing dementia is approximately 10%-12%. Genetic counseling for people with non-familial AD and their family members must be empiric and relatively nonspecific. First-degree relatives of a simplex case of AD (i.e., single occurrence in a family) have a cumulative lifetime risk of developing AD of approximately 15%-30%, which is typically reported as a 20%-25% risk. This risk is approximately 2.5 times that of the background risk (~27% vs 10.4%). In contrast, early-onset familial Alzheimer disease (EOFAD) is inherited in an autosomal dominant manner.

References

PMID: 20301340

Summary from GeneReviews: Alzheimer Disease, Early-Onset Familial

Disease Characteristics

Alzheimer disease (AD) is characterized by adult-onset progressive dementia associated with cerebral cortical atrophy, beta-amyloid plaque formation, and intraneuronal neurofibrillary tangles. AD typically begins with subtle memory failure that becomes more severe and is eventually incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, hallucinations, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism. Familial AD (FAD) characterizes families that have more than one member with AD and usually implies multiple affected persons in more than one generation. Early-onset FAD (EOFAD) refers to families in which onset is consistently before age 60 to 65 years and often before age 55 years.

Diagnosis Testing

EOFAD is diagnosed in families with multiple affected individuals with mean age of onset before 65 years and/or with a documented disease-causing mutation in one of the genes known to be associated with EOFAD. The three clinically indistinguishable subtypes of EOFAD based on the underlying genetic mechanism are: Alzheimer disease type 1 (AD1), caused by mutations in APP (10%-15% of EOFAD); Alzheimer disease type 3 (AD3), caused by mutations in PSEN1, (30%-70% of EOFAD); and Alzheimer disease type 4 (AD4), caused by mutations in PSEN2 (<5% of EOFAD). Kindreds with autosomal dominant EOFAD with no identifiable mutations in PSEN1, PSEN2, or APP have been described; thus, it is likely that mutations in additional genes are causative.

Genetic Counseling

EOFAD is inherited in an autosomal dominant manner. Most individuals with EOFAD had an affected parent; occasionally, neither parent is identified as having had the disease, but a second-degree relative (e.g., an uncle, aunt, and/or grandparent) has or had EOFAD. Each child of an individual with EOFAD has a 50% chance of inheriting the mutation and developing EOFAD. Prenatal testing for pregnancies at increased risk for is possible if the disease-causing mutation in the family is known; however, prenatal testing for adult-onset disorders is uncommon.

NHGRI GWAS Catalog

A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.

A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.

A genome-wide scan for common variants affecting the rate of age-related cognitive decline.

A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease.

APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study.

HIV-1 protein interactions

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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, p14	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

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000032.1	NP_000605.1	CNTF	BIND	PubMed	Apolipoprotein E binds to ciliary neurotrophic factor
NP_000032.1	NP_000605.1	CNTF	BIND	PubMed	Apolipoprotein E binds to ciliary neurotrophic factor
NP_000032.1	NP_671491.1	HCVgp1	BIND	PubMed	ApoE interacts with NS5A. This interaction was modeled on a demonstrated interaction between ApoE from an unspecified species and NS5A from Hepatitis C virus type 1a isolate H77.
NP_000032.1	CAB46677.1		BIND	PubMed	ApoE interacts with NS5A. This interaction was modeled on a demonstrated interaction between ApoE from an unspecified species and NS5A from Hepatitis C virus type 1b isolate Con1.
P02649	P01023	A2M	HPRD	PubMed
P02649	P02768	ALB	HPRD	PubMed
P02649	P02649	APOE	HPRD	PubMed
P02649	P05067	APP	HPRD	PubMed
P02649	P26441	CNTF	HPRD	PubMed
P02649	P07858	CTSB	HPRD	PubMed
P02649	P01130	LDLR	HPRD	PubMed
P02649	Q07954	LRP1	HPRD	PubMed
P02649	P98164	LRP2	HPRD	PubMed
P02649	Q14114	LRP8	HPRD	PubMed
P02649	P11137	MAP2	HPRD	PubMed
P02649	P10636	MAPT	HPRD	PubMed
P02649	P07197	NEFM	HPRD	PubMed
P02649	P55058	PLTP	HPRD	PubMed
P02649	P04156	PRNP	HPRD	PubMed
P02649	Q8WTV0	SCARB1	HPRD	PubMed
P02649	P98155	VLDLR	HPRD	PubMed
BioGRID:106845	BioGRID:106524	A2M	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:106845	BioGRID:106586	ACTG1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:106715	ALB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:106845	BioGRID:121103	ANKH	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:106845	APOE	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:120856	ARFGAP1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:124736	C19orf52	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:116312	CDC37	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:106845	BioGRID:107841	CSNK2A1	BioGRID	PubMed	Biochemical Activity
BioGRID:106845	BioGRID:107938	CYP2C18	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:107936	CYP2C8	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:119446	ECSIT	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:106845	BioGRID:108309	ELAVL1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:116569	EPN2	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:108487	FARSA	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:120200	FBXL12	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:108580	FOXG1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:119795	FXYD7	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:108909	GCDH	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:111635	HTRA1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:109660	IFIT3	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:117289	IFIT5	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:115250	IQSEC1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:114762	LONP1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:123925	LOXL4	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:110215	LRP1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106845	BioGRID:110216	LRP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106845	BioGRID:113579	LRP8	BioGRID	PubMed	Reconstituted Complex
BioGRID:106845	BioGRID:110308	MAPT	BioGRID	PubMed	Protein-peptide; Reconstituted Complex
BioGRID:106845	BioGRID:116632	MAST1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:121846	MID1IP1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:110818	NEFM	BioGRID	PubMed	Reconstituted Complex
BioGRID:106845	BioGRID:110909	NOS3	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:106845	BioGRID:111141	PCMT1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:118098	PDCD4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:106845	BioGRID:116541	PLEKHA6	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:111374	PLTP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106845	BioGRID:123894	PRAM1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:112860	PRDX2	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:111642	PSEN1	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:111941	RHEB	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:126622	RNF32	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:112044	RPL4	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:112644	ST13	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:106845	BioGRID:207808	Set	BioGRID	PubMed	Reconstituted Complex
BioGRID:106845	BioGRID:113152	TYRO3	BioGRID	PubMed	Two-hybrid
BioGRID:106845	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:106845	BioGRID:127124	ZNF558	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Alzheimer's disease, organism-specific biosystem (from KEGG)
Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Alzheimer's disease, conserved biosystem (from KEGG)
Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
Alzheimers Disease, organism-specific biosystem (from WikiPathways)
Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
Diseases associated with visual transduction, organism-specific biosystem (from REACTOME)
Diseases associated with visual transduction, organism-specific biosystemThe process of vision involves two stages; the retinoid cycle which supplies and regenerates the visual chromophore required for vision and phototransduction which propagates the light signal. Defect...
HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
Retinoid metabolism and transport, organism-specific biosystem (from REACTOME)
Retinoid metabolism and transport, organism-specific biosystemVitamin A (all-trans-retinol) must be taken up, either as carotenes from plants, or as retinyl esters from animal food. The most prominent carotenes are alpha-carotene, lycopene, lutein, beta-cryptox...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Statin Pathway, organism-specific biosystem (from WikiPathways)
Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
Visual phototransduction, organism-specific biosystem (from REACTOME)
Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...

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

Genotypes

See APOE SNP Geneview Report
See APOE SNP Genotype Report
See APOE SNP Variation Viewer Report

Homology

Homologs of the APOE gene: The APOE gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

MGC1571

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
antioxidant activity	IDA Inferred from Direct Assay more info	PubMed
beta-amyloid binding	IDA Inferred from Direct Assay more info	PubMed
cholesterol transporter activity	IEA Inferred from Electronic Annotation more info
heparin binding	IDA Inferred from Direct Assay more info	PubMed
hydroxyapatite binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IDA Inferred from Direct Assay more info	PubMed
lipid binding	IDA Inferred from Direct Assay more info	PubMed
lipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
lipoprotein particle binding	IEA Inferred from Electronic Annotation more info
low-density lipoprotein particle receptor binding	IDA Inferred from Direct Assay more info	PubMed
low-density lipoprotein particle receptor binding	IPI Inferred from Physical Interaction more info	PubMed
metal chelating activity	IDA Inferred from Direct Assay more info	PubMed
phosphatidylcholine-sterol O-acyltransferase activator activity	IDA Inferred from Direct Assay more info	PubMed
phospholipid binding	IDA Inferred from Direct Assay more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info
protein heterodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
tau protein binding	IPI Inferred from Physical Interaction more info	PubMed
very-low-density lipoprotein particle receptor binding	IDA Inferred from Direct Assay more info	PubMed
very-low-density lipoprotein particle receptor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G-protein coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
aging	IEA Inferred from Electronic Annotation more info
artery morphogenesis	IEA Inferred from Electronic Annotation more info
cGMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
cell death	IEA Inferred from Electronic Annotation more info
cellular calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
cellular response to cholesterol	IEA Inferred from Electronic Annotation more info
cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
cholesterol catabolic process	IEA Inferred from Electronic Annotation more info
cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
cholesterol homeostasis	IDA Inferred from Direct Assay more info	PubMed
cholesterol metabolic process	IDA Inferred from Direct Assay more info	PubMed
cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
chylomicron remnant clearance	IMP Inferred from Mutant Phenotype more info	PubMed
cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
high-density lipoprotein particle assembly	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle clearance	IDA Inferred from Direct Assay more info	PubMed
high-density lipoprotein particle remodeling	IGI Inferred from Genetic Interaction more info	PubMed
intracellular transport	TAS Traceable Author Statement more info	PubMed
lipid metabolic process	TAS Traceable Author Statement more info
lipoprotein biosynthetic process	IEA Inferred from Electronic Annotation more info
lipoprotein catabolic process	IEA Inferred from Electronic Annotation more info
lipoprotein metabolic process	TAS Traceable Author Statement more info
low-density lipoprotein particle remodeling	IEA Inferred from Electronic Annotation more info
maintenance of location in cell	IEA Inferred from Electronic Annotation more info
negative regulation of MAP kinase activity	IDA Inferred from Direct Assay more info	PubMed
negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of blood coagulation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of blood vessel endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
negative regulation of cholesterol biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
negative regulation of endothelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of inflammatory response	IC Inferred by Curator more info	PubMed
negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
negative regulation of platelet activation	IDA Inferred from Direct Assay more info	PubMed
nitric oxide mediated signal transduction	IDA Inferred from Direct Assay more info	PubMed
oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
peripheral nervous system axon regeneration	IEA Inferred from Electronic Annotation more info
phospholipid efflux	IDA Inferred from Direct Assay more info	PubMed
phototransduction, visible light	TAS Traceable Author Statement more info
positive regulation of axon extension	IEA Inferred from Electronic Annotation more info
positive regulation of cGMP biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
positive regulation of cholesterol efflux	IGI Inferred from Genetic Interaction more info	PubMed
positive regulation of cholesterol esterification	IDA Inferred from Direct Assay more info	PubMed
positive regulation of low-density lipoprotein particle receptor catabolic process	IDA Inferred from Direct Assay more info	PubMed
positive regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
positive regulation of nitric-oxide synthase activity	IDA Inferred from Direct Assay more info	PubMed
receptor-mediated endocytosis	IDA Inferred from Direct Assay more info	PubMed
regulation of Cdc42 protein signal transduction	IDA Inferred from Direct Assay more info	PubMed
regulation of axon extension	TAS Traceable Author Statement more info	PubMed
regulation of gene expression	IEA Inferred from Electronic Annotation more info
regulation of neuronal synaptic plasticity	TAS Traceable Author Statement more info	PubMed
response to dietary excess	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to insulin stimulus	IEA Inferred from Electronic Annotation more info
response to reactive oxygen species	NAS Non-traceable Author Statement more info	PubMed
response to retinoic acid	IEA Inferred from Electronic Annotation more info
retinoid metabolic process	TAS Traceable Author Statement more info
reverse cholesterol transport	IDA Inferred from Direct Assay more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
synaptic transmission, cholinergic	TAS Traceable Author Statement more info	PubMed
triglyceride metabolic process	IDA Inferred from Direct Assay more info	PubMed
triglyceride metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
vasodilation	IEA Inferred from Electronic Annotation more info
very-low-density lipoprotein particle clearance	IDA Inferred from Direct Assay more info	PubMed
very-low-density lipoprotein particle clearance	IMP Inferred from Mutant Phenotype more info	PubMed
very-low-density lipoprotein particle remodeling	IDA Inferred from Direct Assay more info	PubMed
very-low-density lipoprotein particle remodeling	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
Golgi apparatus	IEA Inferred from Electronic Annotation more info
chylomicron	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	NAS Non-traceable Author Statement more info	PubMed
cytoplasm	TAS Traceable Author Statement more info	PubMed
dendrite	NAS Non-traceable Author Statement more info	PubMed
early endosome	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
extracellular space	IDA Inferred from Direct Assay more info
extrinsic to external side of plasma membrane	IEA Inferred from Electronic Annotation more info
high-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
intermediate-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
late endosome	IEA Inferred from Electronic Annotation more info
low-density lipoprotein particle	IDA Inferred from Direct Assay more info	PubMed
neuronal cell body	NAS Non-traceable Author Statement more info	PubMed
plasma membrane	TAS Traceable Author Statement more info
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 E; apo-E; 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

5001..8612

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000041.2 → NP_000032.1 apolipoprotein E precursor

Status: REVIEWED

Source sequence(s)

BC003557, BU848796

Consensus CDS

CCDS12647.1

UniProtKB/Swiss-Prot

P02649

Related

ENSP00000252486, OTTHUMP00000159143, ENST00000252486, OTTHUMT00000250865

Conserved Domains (1) summary

pfam01442
Location:80 – 299
Blast Score: 299

Apolipoprotein; Apolipoprotein A1/A4/E domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000019.9 Reference GRCh37.p10 Primary Assembly

Range

45409039..45412650

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000151.1 Alternate HuRef

Range

41839825..41843436

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018930.1 Alternate CHM1_1.0

Range

45599171..45602875

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB035149.1	BAA96080.1
genomic	ABBA01040892.1 (6799..10410)	None
genomic	AC011481.4 (48605..52216)	None
genomic	AF050154.1	AAD02505.1
genomic	AF261279.1	AAG27089.1
genomic	AMYH01009845.1 (14332..17795)	None
genomic	AMYH01009846.1	None
genomic	AY077451.1	AAL82810.1
genomic	CH471126.1	EAW57306.1
genomic	FJ525876.1	ACN81314.1
genomic	M10065.1	AAB59397.1
genomic	X92000.1	CAA63051.1
mRNA	AK314898.1	BAG37412.1
mRNA	BC003557.1	AAH03557.1
mRNA	BU848796.1	None
mRNA	K00396.1	AAB59546.1
mRNA	M12529.1	AAB59518.1
mRNA	X00199.1	CAA25017.1
mRNA	Z70760.1	CAA94806.1
other-genetic	DQ892548.2	ABM83474.1
other-genetic	DQ895759.2	ABM86685.1