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P02649

- APOE_HUMAN

UniProt

P02649 - APOE_HUMAN

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Protein

Apolipoprotein E

Gene

APOE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Mediates the binding, internalization, and catabolism of lipoprotein particles. It can serve as a ligand for the LDL (apo B/E) receptor and for the specific apo-E receptor (chylomicron remnant) of hepatic tissues.

GO - Molecular functioni

  1. antioxidant activity Source: BHF-UCL
  2. beta-amyloid binding Source: UniProtKB
  3. cholesterol transporter activity Source: Ensembl
  4. heparin binding Source: BHF-UCL
  5. hydroxyapatite binding Source: Ensembl
  6. identical protein binding Source: BHF-UCL
  7. lipid binding Source: UniProtKB
  8. lipid transporter activity Source: BHF-UCL
  9. lipoprotein particle binding Source: Ensembl
  10. low-density lipoprotein particle receptor binding Source: BHF-UCL
  11. metal chelating activity Source: BHF-UCL
  12. phosphatidylcholine-sterol O-acyltransferase activator activity Source: BHF-UCL
  13. phospholipid binding Source: BHF-UCL
  14. protein homodimerization activity Source: BHF-UCL
  15. tau protein binding Source: BHF-UCL
  16. very-low-density lipoprotein particle receptor binding Source: BHF-UCL

GO - Biological processi

  1. aging Source: Ensembl
  2. alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering Source: Alzheimers_University_of_Toronto
  3. artery morphogenesis Source: Ensembl
  4. cell death Source: UniProtKB-KW
  5. cellular calcium ion homeostasis Source: Ensembl
  6. cellular response to cholesterol Source: Ensembl
  7. cellular response to growth factor stimulus Source: Ensembl
  8. cellular response to interleukin-1 Source: Ensembl
  9. cGMP-mediated signaling Source: BHF-UCL
  10. cholesterol catabolic process Source: Ensembl
  11. cholesterol efflux Source: BHF-UCL
  12. cholesterol homeostasis Source: BHF-UCL
  13. cholesterol metabolic process Source: BHF-UCL
  14. chylomicron remnant clearance Source: BHF-UCL
  15. cytoskeleton organization Source: UniProtKB
  16. fatty acid homeostasis Source: Alzheimers_University_of_Toronto
  17. G-protein coupled receptor signaling pathway Source: BHF-UCL
  18. high-density lipoprotein particle assembly Source: BHF-UCL
  19. high-density lipoprotein particle clearance Source: BHF-UCL
  20. high-density lipoprotein particle remodeling Source: BHF-UCL
  21. intracellular transport Source: UniProtKB
  22. lipoprotein biosynthetic process Source: Ensembl
  23. lipoprotein catabolic process Source: Ensembl
  24. lipoprotein metabolic process Source: Reactome
  25. long-chain fatty acid transport Source: Alzheimers_University_of_Toronto
  26. low-density lipoprotein particle remodeling Source: Ensembl
  27. maintenance of location in cell Source: Ensembl
  28. negative regulation of beta-amyloid formation Source: Alzheimers_University_of_Toronto
  29. negative regulation of blood coagulation Source: BHF-UCL
  30. negative regulation of blood vessel endothelial cell migration Source: BHF-UCL
  31. negative regulation of cholesterol biosynthetic process Source: BHF-UCL
  32. negative regulation of cholesterol efflux Source: Alzheimers_University_of_Toronto
  33. negative regulation of dendritic spine development Source: Alzheimers_University_of_Toronto
  34. negative regulation of dendritic spine maintenance Source: Alzheimers_University_of_Toronto
  35. negative regulation of endothelial cell proliferation Source: BHF-UCL
  36. negative regulation of inflammatory response Source: BHF-UCL
  37. negative regulation of lipid biosynthetic process Source: Alzheimers_University_of_Toronto
  38. negative regulation of lipid transport across blood brain barrier Source: Alzheimers_University_of_Toronto
  39. negative regulation of MAP kinase activity Source: BHF-UCL
  40. negative regulation of neuron apoptotic process Source: Ensembl
  41. negative regulation of neuron death Source: Alzheimers_University_of_Toronto
  42. negative regulation of phospholipid efflux Source: Alzheimers_University_of_Toronto
  43. negative regulation of platelet activation Source: BHF-UCL
  44. negative regulation of postsynaptic membrane organization Source: Alzheimers_University_of_Toronto
  45. negative regulation of presynaptic membrane organization Source: Alzheimers_University_of_Toronto
  46. nitric oxide mediated signal transduction Source: BHF-UCL
  47. N-methyl-D-aspartate receptor clustering Source: Alzheimers_University_of_Toronto
  48. oligodendrocyte differentiation Source: Ensembl
  49. peripheral nervous system axon regeneration Source: Ensembl
  50. phospholipid efflux Source: BHF-UCL
  51. phototransduction, visible light Source: Reactome
  52. positive regulation of axon extension Source: Ensembl
  53. positive regulation of beta-amyloid formation Source: Alzheimers_University_of_Toronto
  54. positive regulation of cGMP biosynthetic process Source: BHF-UCL
  55. positive regulation of cholesterol efflux Source: Alzheimers_University_of_Toronto
  56. positive regulation of cholesterol esterification Source: BHF-UCL
  57. positive regulation of dendritic spine development Source: Alzheimers_University_of_Toronto
  58. positive regulation of dendritic spine maintenance Source: Alzheimers_University_of_Toronto
  59. positive regulation of lipid biosynthetic process Source: Alzheimers_University_of_Toronto
  60. positive regulation of lipid transport across blood brain barrier Source: Alzheimers_University_of_Toronto
  61. positive regulation of low-density lipoprotein particle receptor catabolic process Source: BHF-UCL
  62. positive regulation of membrane protein ectodomain proteolysis Source: BHF-UCL
  63. positive regulation of neurofibrillary tangle assembly Source: Alzheimers_University_of_Toronto
  64. positive regulation of neuron death Source: Alzheimers_University_of_Toronto
  65. positive regulation of nitric-oxide synthase activity Source: BHF-UCL
  66. positive regulation of phospholipid efflux Source: Alzheimers_University_of_Toronto
  67. positive regulation of postsynaptic membrane organization Source: Alzheimers_University_of_Toronto
  68. positive regulation of presynaptic membrane organization Source: Alzheimers_University_of_Toronto
  69. protein import Source: Alzheimers_University_of_Toronto
  70. receptor-mediated endocytosis Source: BHF-UCL
  71. regulation of axon extension Source: UniProtKB
  72. regulation of beta-amyloid clearance Source: Alzheimers_University_of_Toronto
  73. regulation of Cdc42 protein signal transduction Source: BHF-UCL
  74. regulation of neuronal synaptic plasticity Source: UniProtKB
  75. regulation of neuron death Source: Alzheimers_University_of_Toronto
  76. regulation of tau-protein kinase activity Source: Alzheimers_University_of_Toronto
  77. response to dietary excess Source: Ensembl
  78. response to ethanol Source: Ensembl
  79. response to insulin Source: Ensembl
  80. response to reactive oxygen species Source: UniProtKB
  81. response to retinoic acid Source: Ensembl
  82. retinoid metabolic process Source: Reactome
  83. reverse cholesterol transport Source: BHF-UCL
  84. small molecule metabolic process Source: Reactome
  85. synaptic transmission, cholinergic Source: UniProtKB
  86. triglyceride metabolic process Source: BHF-UCL
  87. vasodilation Source: Ensembl
  88. very-low-density lipoprotein particle clearance Source: BHF-UCL
  89. very-low-density lipoprotein particle remodeling Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Cholesterol metabolism, Lipid metabolism, Lipid transport, Steroid metabolism, Sterol metabolism, Transport

Keywords - Ligandi

Heparin-binding

Enzyme and pathway databases

ReactomeiREACT_13621. HDL-mediated lipid transport.
REACT_163699. Scavenging by Class A Receptors.
REACT_24968. Retinoid metabolism and transport.
REACT_6841. Chylomicron-mediated lipid transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Apolipoprotein E
Short name:
Apo-E
Gene namesi
Name:APOE
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:613. APOE.

Subcellular locationi

GO - Cellular componenti

  1. blood microparticle Source: UniProt
  2. chylomicron Source: BHF-UCL
  3. cytoplasm Source: UniProtKB
  4. dendrite Source: BHF-UCL
  5. early endosome Source: Reactome
  6. endocytic vesicle lumen Source: Reactome
  7. extracellular matrix Source: UniProtKB
  8. extracellular region Source: Reactome
  9. extracellular space Source: BHF-UCL
  10. extracellular vesicular exosome Source: UniProtKB
  11. extrinsic component of external side of plasma membrane Source: Ensembl
  12. Golgi apparatus Source: Ensembl
  13. high-density lipoprotein particle Source: BHF-UCL
  14. intermediate-density lipoprotein particle Source: BHF-UCL
  15. late endosome Source: Ensembl
  16. low-density lipoprotein particle Source: BHF-UCL
  17. membrane Source: UniProtKB
  18. neuronal cell body Source: BHF-UCL
  19. nucleus Source: UniProt
  20. plasma membrane Source: Reactome
  21. very-low-density lipoprotein particle Source: BHF-UCL
  22. vesicle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Chylomicron, HDL, Secreted, VLDL

Pathology & Biotechi

Involvement in diseasei

Hyperlipoproteinemia 3 (HLPP3) [MIM:107741]: A disorder characterized by the accumulation of intermediate-density lipoprotein particles (IDL or broad-beta-lipoprotein) rich in cholesterol. Clinical features include xanthomas, yellowish lipid deposits in the palmar crease, or less specific on tendons and on elbows. The disorder rarely manifests before the third decade in men. In women, it is usually expressed only after the menopause.4 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry. The vast majority of the patients are homozygous for APOE*2 alleles. More severe cases of HLPP3 have also been observed in individuals heterozygous for rare APOE variants. The influence of APOE on lipid levels is often suggested to have major implications for the risk of coronary artery disease (CAD). Individuals carrying the common APOE*4 variant are at higher risk of CAD.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311E → K in HLPP3; form E4 Philadelphia and form E5-type; only form E4 Philadelphia is disease-linked. 1 Publication
Corresponds to variant rs201672011 [ dbSNP | Ensembl ].
VAR_000646
Natural varianti130 – 1301C → R in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked. 4 Publications
Corresponds to variant rs429358 [ dbSNP | Ensembl ].
VAR_000652
Natural varianti145 – 1451G → GEVQAMLG in HLPP3; form E3 Leiden. 1 Publication
VAR_000654
Natural varianti154 – 1541R → C in HLPP3; form E2-type.
VAR_000657
Natural varianti154 – 1541R → S in HLPP3; form E2 Christchurch. 2 Publications
VAR_000656
Natural varianti160 – 1601R → C in HLPP3; form E3**. 1 Publication
VAR_000658
Natural varianti163 – 1631R → C in HLPP3; form E4 Philadelphia and form E2-type; only form E4 Philadelphia is disease-linked. 2 Publications
Corresponds to variant rs769455 [ dbSNP | Ensembl ].
VAR_000659
Natural varianti164 – 1641K → E in HLPP3; form E1 Harrisburg.
VAR_000662
Natural varianti164 – 1641K → Q in HLPP3; form E2**.
VAR_000661
Natural varianti176 – 1761R → C in HLPP3; forms E1 Weisgraber, form E2 and form E3**. 3 Publications
Corresponds to variant rs7412 [ dbSNP | Ensembl ].
VAR_000664
Natural varianti262 – 2632EE → KK in HLPP3; form E7 Suita.
VAR_000668
Alzheimer disease 2 (AD2) [MIM:104310]: A late-onset neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. The APOE*4 allele is genetically associated with the common late onset familial and sporadic forms of Alzheimer disease. Risk for AD increased from 20% to 90% and mean age at onset decreased from 84 to 68 years with increasing number of APOE*4 alleles in 42 families with late onset AD. Thus APOE*4 gene dose is a major risk factor for late onset AD and, in these families, homozygosity for APOE*4 was virtually sufficient to cause AD by age 80. The mechanism by which APOE*4 participates in pathogenesis is not known.
Sea-blue histiocyte disease (SBHD) [MIM:269600]: Characterized by splenomegaly, mild thrombocytopenia and, in the bone marrow, numerous histiocytes containing cytoplasmic granules which stain bright blue with the usual hematologic stains. The syndrome is the consequence of an inherited metabolic defect analogous to Gaucher disease and other sphingolipidoses.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti167 – 1671Missing in SBHD and FH; also found in patients with a diagnosis of familial combined hyperlipidemia. 4 Publications
VAR_035015
Lipoprotein glomerulopathy (LPG) [MIM:611771]: Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431R → C in LPG; form E2 Kyoto. 2 Publications
VAR_042734
Natural varianti163 – 1631R → P in LPG; form E2 Sendai. 1 Publication
VAR_042735
Familial hypercholesterolemia (FH) [MIM:143890]: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti167 – 1671Missing in SBHD and FH; also found in patients with a diagnosis of familial combined hyperlipidemia. 4 Publications
VAR_035015

Keywords - Diseasei

Alzheimer disease, Amyloidosis, Disease mutation, Hyperlipidemia, Neurodegeneration

Organism-specific databases

MIMi104310. phenotype.
107741. gene+phenotype.
143890. phenotype.
269600. phenotype.
611771. phenotype.
Orphaneti238616. Alzheimer disease.
1648. Dementia with Lewy body.
406. Heterozygous familial hypercholesterolemia.
412. Hyperlipoproteinemia type 3.
329481. Lipoprotein glomerulopathy.
158029. Sea-blue histiocytosis.
PharmGKBiPA55.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 18181 PublicationAdd
BLAST
Chaini19 – 317299Apolipoprotein EPRO_0000001987Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi26 – 261O-linked (GalNAc...)1 Publication
Glycosylationi36 – 361O-linked (GalNAc...)1 Publication
Glycosylationi93 – 931N-linked (Glc) (glycation)
Modified residuei143 – 1431Methionine sulfoxideBy similarity
Glycosylationi212 – 2121O-linked (GalNAc...)1 Publication
Glycosylationi307 – 3071O-linked (GalNAc...)1 Publication
Glycosylationi308 – 3081O-linked (GalNAc...)1 Publication
Glycosylationi314 – 3141O-linked (GalNAc...)1 Publication

Post-translational modificationi

Synthesized with the sialic acid attached by O-glycosidic linkage and is subsequently desialylated in plasma. O-glycosylated with core 1 or possibly core 8 glycans. Thr-307 and Thr-314 are minor glycosylation siteS compared to Ser-308.2 Publications
Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher level (2-3 fold).
Phosphorylation sites are present in the extracellular medium.

Keywords - PTMi

Glycation, Glycoprotein, Oxidation, Phosphoprotein

Proteomic databases

MaxQBiP02649.
PaxDbiP02649.
PeptideAtlasiP02649.
PRIDEiP02649.

2D gel databases

DOSAC-COBS-2DPAGEP02649.
SWISS-2DPAGEP02649.

PTM databases

PhosphoSiteiP02649.

Miscellaneous databases

PMAP-CutDBP02649.

Expressioni

Tissue specificityi

Occurs in all lipoprotein fractions in plasma. It constitutes 10-20% of very low density lipoproteins (VLDL) and 1-2% of high density lipoproteins (HDL). APOE is produced in most organs. Significant quantities are produced in liver, brain, spleen, lung, adrenal, ovary, kidney and muscle.

Gene expression databases

BgeeiP02649.
CleanExiHS_APOE.
ExpressionAtlasiP02649. baseline and differential.
GenevestigatoriP02649.

Organism-specific databases

HPAiCAB008363.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CDC37Q165433EBI-1222467,EBI-295634
ECSITQ9BQ954EBI-1222467,EBI-712452
HPP007387EBI-1222467,EBI-1220767
LDLRP011302EBI-1222467,EBI-988319
LRP8Q141142EBI-1222467,EBI-2681187
MAPTP106363EBI-9209835,EBI-366182
PDCD4Q53EL63EBI-1222467,EBI-935824
ST13P505023EBI-1222467,EBI-357285
TMCC2O750695EBI-1222467,EBI-726731

Protein-protein interaction databases

BioGridi106845. 53 interactions.
DIPiDIP-1120N.
IntActiP02649. 26 interactions.
MINTiMINT-4999641.
STRINGi9606.ENSP00000252486.

Structurei

Secondary structure

1
317
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi22 – 243
Helixi31 – 399
Turni40 – 423
Helixi43 – 6018
Helixi63 – 708
Helixi73 – 9624
Turni97 – 993
Helixi106 – 14136
Turni143 – 1453
Helixi149 – 17931
Turni180 – 1823
Turni187 – 1904
Helixi193 – 1986
Beta strandi200 – 2023
Helixi209 – 2179
Helixi228 – 24114
Helixi257 – 28327
Helixi286 – 30318
Beta strandi307 – 3093

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1B68X-ray2.00A19-209[»]
1BZ4X-ray1.85A40-183[»]
1EA8X-ray1.95A19-209[»]
1GS9X-ray1.70A19-183[»]
1H7IX-ray1.90A19-209[»]
1LE2X-ray3.00A41-184[»]
1LE4X-ray2.50A41-184[»]
1LPEX-ray2.25A41-184[»]
1NFNX-ray1.80A19-209[»]
1NFOX-ray2.00A19-209[»]
1OEFNMR-A281-304[»]
1OEGNMR-A285-307[»]
1OR2X-ray2.50A19-183[»]
1OR3X-ray1.73A19-183[»]
2KC3NMR-A19-201[»]
2KNYNMR-A147-167[»]
2L7BNMR-A19-317[»]
DisProtiDP00355.
ProteinModelPortaliP02649.
SMRiP02649. Positions 19-317.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP02649.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati80 – 101221Add
BLAST
Repeati102 – 123222Add
BLAST
Repeati124 – 145223Add
BLAST
Repeati146 – 167224Add
BLAST
Repeati168 – 189225Add
BLAST
Repeati190 – 211226Add
BLAST
Repeati212 – 233227Add
BLAST
Repeati234 – 255228Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni80 – 2551768 X 22 AA approximate tandem repeatsAdd
BLAST
Regioni158 – 16811LDL receptor bindingSequence AnalysisAdd
BLAST
Regioni162 – 1654Heparin-binding
Regioni229 – 2368Heparin-binding

Sequence similaritiesi

Belongs to the apolipoprotein A1/A4/E family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiNOG44867.
GeneTreeiENSGT00730000111315.
HOGENOMiHOG000034006.
HOVERGENiHBG010582.
InParanoidiP02649.
KOiK04524.
OMAiPLQERAQ.
OrthoDBiEOG793B87.
PhylomeDBiP02649.
TreeFamiTF334458.

Family and domain databases

InterProiIPR000074. ApoA1_A4_E.
[Graphical view]
PfamiPF01442. Apolipoprotein. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P02649-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MKVLWAALLV TFLAGCQAKV EQAVETEPEP ELRQQTEWQS GQRWELALGR
60 70 80 90 100
FWDYLRWVQT LSEQVQEELL SSQVTQELRA LMDETMKELK AYKSELEEQL
110 120 130 140 150
TPVAEETRAR LSKELQAAQA RLGADMEDVC GRLVQYRGEV QAMLGQSTEE
160 170 180 190 200
LRVRLASHLR KLRKRLLRDA DDLQKRLAVY QAGAREGAER GLSAIRERLG
210 220 230 240 250
PLVEQGRVRA ATVGSLAGQP LQERAQAWGE RLRARMEEMG SRTRDRLDEV
260 270 280 290 300
KEQVAEVRAK LEEQAQQIRL QAEAFQARLK SWFEPLVEDM QRQWAGLVEK
310
VQAAVGTSAA PVPSDNH
Length:317
Mass (Da):36,154
Last modified:July 21, 1986 - v1
Checksum:i91AFC04210A30689
GO

Polymorphismi

Three common APOE alleles have been identified: APOE*2, APOE*3, and APOE*4. The corresponding three major isoforms, E2, E3, and E4, are recognized according to their relative position after isoelectric focusing. Different mutations causing the same migration pattern after isoelectric focusing define different isoform subtypes. The most common isoform is E3 and is present in 40-90% of the population. Common APOE variants influence lipoprotein metabolism in healthy individuals.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti21 – 211E → K in form E5; associated with hyperlipoproteinemia and atherosclerosis. 1 Publication
VAR_000645
Natural varianti31 – 311E → K in HLPP3; form E4 Philadelphia and form E5-type; only form E4 Philadelphia is disease-linked. 1 Publication
Corresponds to variant rs201672011 [ dbSNP | Ensembl ].
VAR_000646
Natural varianti43 – 431R → C in LPG; form E2 Kyoto. 2 Publications
VAR_042734
Natural varianti46 – 461L → P in form E4 Freiburg. 1 Publication
Corresponds to variant rs769452 [ dbSNP | Ensembl ].
VAR_000647
Natural varianti60 – 601T → A in form E3 Freiburg.
Corresponds to variant rs28931576 [ dbSNP | Ensembl ].
VAR_000648
Natural varianti64 – 641Q → H Polymorphism confirmed at protein level. 2 Publications
VAR_014114
Natural varianti99 – 991Q → K in form E5 Frankfurt.
VAR_000649
Natural varianti102 – 1021P → R in form E5-type; no hyperlipidemia.
Corresponds to variant rs28931578 [ dbSNP | Ensembl ].
VAR_000650
Natural varianti117 – 1171A → T in form E3*.
Corresponds to variant rs28931577 [ dbSNP | Ensembl ].
VAR_000651
Natural varianti124 – 1241A → V in form E3 Basel. 1 Publication
VAR_016789
Natural varianti130 – 1301C → R in HLPP3; form E3**, form E4, form E4/3 and some forms E5-type; only form E3** is disease-linked. 4 Publications
Corresponds to variant rs429358 [ dbSNP | Ensembl ].
VAR_000652
Natural varianti145 – 1451G → D in form E1 Weisgraber. 1 Publication
VAR_000653
Natural varianti145 – 1451G → GEVQAMLG in HLPP3; form E3 Leiden. 1 Publication
VAR_000654
Natural varianti152 – 1521R → Q in form E2-type; no hyperlipidemia.
Corresponds to variant rs28931578 [ dbSNP | Ensembl ].
VAR_000655
Natural varianti154 – 1541R → C in HLPP3; form E2-type.
VAR_000657
Natural varianti154 – 1541R → S in HLPP3; form E2 Christchurch. 2 Publications
VAR_000656
Natural varianti160 – 1601R → C in HLPP3; form E3**. 1 Publication
VAR_000658
Natural varianti163 – 1631R → C in HLPP3; form E4 Philadelphia and form E2-type; only form E4 Philadelphia is disease-linked. 2 Publications
Corresponds to variant rs769455 [ dbSNP | Ensembl ].
VAR_000659
Natural varianti163 – 1631R → H in E3 Kochi.
VAR_000660
Natural varianti163 – 1631R → P in LPG; form E2 Sendai. 1 Publication
VAR_042735
Natural varianti164 – 1641K → E in HLPP3; form E1 Harrisburg.
VAR_000662
Natural varianti164 – 1641K → Q in HLPP3; form E2**.
VAR_000661
Natural varianti167 – 1671Missing in SBHD and FH; also found in patients with a diagnosis of familial combined hyperlipidemia. 4 Publications
VAR_035015
Natural varianti170 – 1701A → P in form E3*.
VAR_000663
Natural varianti176 – 1761R → C in HLPP3; forms E1 Weisgraber, form E2 and form E3**. 3 Publications
Corresponds to variant rs7412 [ dbSNP | Ensembl ].
VAR_000664
Natural varianti242 – 2421R → Q in form E2 Fukuoka.
VAR_000665
Natural varianti246 – 2461R → C in form E2 Dunedin.
VAR_000666
Natural varianti254 – 2541V → E in form E2 W.G.. 1 Publication
VAR_000667
Natural varianti262 – 2632EE → KK in HLPP3; form E7 Suita.
VAR_000668
Natural varianti269 – 2691R → G in form E3 H.B. and isoform E4/3. 2 Publications
VAR_000669
Natural varianti270 – 2701L → E in form E1 H.E.; requires 2 nucleotide substitutions. 1 Publication
VAR_000670
Natural varianti292 – 2921R → H in form E4 P.D.. 1 Publication
VAR_000671
Natural varianti314 – 3141S → R in form E4 H.G.. 1 Publication
Corresponds to variant rs28931579 [ dbSNP | Ensembl ].
VAR_000672

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M12529 mRNA. Translation: AAB59518.1.
K00396 mRNA. Translation: AAB59546.1.
M10065 Genomic DNA. Translation: AAB59397.1.
AF050154 Genomic DNA. Translation: AAD02505.1.
AF261279 Genomic DNA. Translation: AAG27089.1.
AK314898 mRNA. Translation: BAG37412.1.
FJ525876 Genomic DNA. Translation: ACN81314.1.
BC003557 mRNA. Translation: AAH03557.1.
AB035149 Genomic DNA. Translation: BAA96080.1.
CCDSiCCDS12647.1.
PIRiA92478. LPHUE.
RefSeqiNP_000032.1. NM_000041.2.
UniGeneiHs.654439.

Genome annotation databases

EnsembliENST00000252486; ENSP00000252486; ENSG00000130203.
GeneIDi348.
KEGGihsa:348.
UCSCiuc002pab.3. human.

Polymorphism databases

DMDMi114039.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

SHMPD

The Singapore human mutation and polymorphism database

Wikipedia

Apolipoprotein E entry

Protein Spotlight

Tangled - Issue 83 of June 2007

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
M12529 mRNA. Translation: AAB59518.1 .
K00396 mRNA. Translation: AAB59546.1 .
M10065 Genomic DNA. Translation: AAB59397.1 .
AF050154 Genomic DNA. Translation: AAD02505.1 .
AF261279 Genomic DNA. Translation: AAG27089.1 .
AK314898 mRNA. Translation: BAG37412.1 .
FJ525876 Genomic DNA. Translation: ACN81314.1 .
BC003557 mRNA. Translation: AAH03557.1 .
AB035149 Genomic DNA. Translation: BAA96080.1 .
CCDSi CCDS12647.1.
PIRi A92478. LPHUE.
RefSeqi NP_000032.1. NM_000041.2.
UniGenei Hs.654439.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1B68 X-ray 2.00 A 19-209 [» ]
1BZ4 X-ray 1.85 A 40-183 [» ]
1EA8 X-ray 1.95 A 19-209 [» ]
1GS9 X-ray 1.70 A 19-183 [» ]
1H7I X-ray 1.90 A 19-209 [» ]
1LE2 X-ray 3.00 A 41-184 [» ]
1LE4 X-ray 2.50 A 41-184 [» ]
1LPE X-ray 2.25 A 41-184 [» ]
1NFN X-ray 1.80 A 19-209 [» ]
1NFO X-ray 2.00 A 19-209 [» ]
1OEF NMR - A 281-304 [» ]
1OEG NMR - A 285-307 [» ]
1OR2 X-ray 2.50 A 19-183 [» ]
1OR3 X-ray 1.73 A 19-183 [» ]
2KC3 NMR - A 19-201 [» ]
2KNY NMR - A 147-167 [» ]
2L7B NMR - A 19-317 [» ]
DisProti DP00355.
ProteinModelPortali P02649.
SMRi P02649. Positions 19-317.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 106845. 53 interactions.
DIPi DIP-1120N.
IntActi P02649. 26 interactions.
MINTi MINT-4999641.
STRINGi 9606.ENSP00000252486.

Chemistry

DrugBanki DB00062. Human Serum Albumin.
DB00064. Serum albumin iodonated.

PTM databases

PhosphoSitei P02649.

Polymorphism databases

DMDMi 114039.

2D gel databases

DOSAC-COBS-2DPAGE P02649.
SWISS-2DPAGE P02649.

Proteomic databases

MaxQBi P02649.
PaxDbi P02649.
PeptideAtlasi P02649.
PRIDEi P02649.

Protocols and materials databases

DNASUi 348.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000252486 ; ENSP00000252486 ; ENSG00000130203 .
GeneIDi 348.
KEGGi hsa:348.
UCSCi uc002pab.3. human.

Organism-specific databases

CTDi 348.
GeneCardsi GC19P045408.
HGNCi HGNC:613. APOE.
HPAi CAB008363.
MIMi 104310. phenotype.
107741. gene+phenotype.
143890. phenotype.
269600. phenotype.
611771. phenotype.
neXtProti NX_P02649.
Orphaneti 238616. Alzheimer disease.
1648. Dementia with Lewy body.
406. Heterozygous familial hypercholesterolemia.
412. Hyperlipoproteinemia type 3.
329481. Lipoprotein glomerulopathy.
158029. Sea-blue histiocytosis.
PharmGKBi PA55.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG44867.
GeneTreei ENSGT00730000111315.
HOGENOMi HOG000034006.
HOVERGENi HBG010582.
InParanoidi P02649.
KOi K04524.
OMAi PLQERAQ.
OrthoDBi EOG793B87.
PhylomeDBi P02649.
TreeFami TF334458.

Enzyme and pathway databases

Reactomei REACT_13621. HDL-mediated lipid transport.
REACT_163699. Scavenging by Class A Receptors.
REACT_24968. Retinoid metabolism and transport.
REACT_6841. Chylomicron-mediated lipid transport.

Miscellaneous databases

ChiTaRSi APOE. human.
EvolutionaryTracei P02649.
GeneWikii Apolipoprotein_E.
GenomeRNAii 348.
NextBioi 1435.
PMAP-CutDB P02649.
PROi P02649.
SOURCEi Search...

Gene expression databases

Bgeei P02649.
CleanExi HS_APOE.
ExpressionAtlasi P02649. baseline and differential.
Genevestigatori P02649.

Family and domain databases

InterProi IPR000074. ApoA1_A4_E.
[Graphical view ]
Pfami PF01442. Apolipoprotein. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Synthesis, intracellular processing, and signal peptide of human apolipoprotein E."
    Zannis V.I., McPherson J., Goldberger G., Karathanasis S.K., Breslow J.L.
    J. Biol. Chem. 259:5495-5499(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (VARIANT E3).
  2. "Human apolipoprotein E mRNA. cDNA cloning and nucleotide sequencing of a new variant."
    McLean J.W., Elshourbagy N.A., Chang D.J., Mahley R.W., Taylor J.M.
    J. Biol. Chem. 259:6498-6504(1984) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (VARIANT E3).
  3. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (VARIANT E4).
  4. "Genotyping and sequence analysis of apolipoprotein E isoforms."
    Emi M., Wu L.L., Robertson M.A., Myers R.L., Hegele R.A., Williams R.R., White R., Lalouel J.-M.
    Genomics 3:373-379(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (VARIANT E2).
  5. "Sequencing of 42kb of the APO E-C2 gene cluster reveals a new gene: PEREC1."
    Freitas E.M., Zhang W.J., Lalonde J.P., Tay G.K., Gaudieri S., Ashworth L.K., Van Bockxmeer F.M., Dawkins R.L.
    DNA Seq. 9:89-100(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  6. "Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene."
    Nickerson D.A., Taylor S.L., Fullerton S.M., Weiss K.M., Clark A.G., Stengard J.H., Salomaa V., Boerwinkle E., Sing C.F.
    Genome Res. 10:1532-1545(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS PRO-46; ARG-130; CYS-163 AND CYS-176.
  7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cerebellum.
  8. NHLBI resequencing and genotyping service (RS&G)
    Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  9. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye.
  10. "A new apolipoprotein E variant (Gln46-->His)."
    Imura T., Kimura H., Kawasaki M.
    Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 16-78, VARIANT HIS-64.
    Tissue: Blood.
  11. "Identification and DNA sequence of a human apolipoprotein E cDNA clone."
    Breslow J.L., McPherson J., Nussbaum A.L., Williams H.W., Lofquist-Kahl F., Karathanasis S.K., Zannis V.I.
    J. Biol. Chem. 257:14639-14641(1982) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 99-317 (VARIANT E3).
  12. "Human apolipoprotein E. The complete amino acid sequence."
    Rall S.C. Jr., Weisgraber K.H., Mahley R.W.
    J. Biol. Chem. 257:4171-4178(1982) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 19-317 (VARIANT E2).
  13. "Apolipoprotein E: cholesterol transport protein with expanding role in cell biology."
    Mahley R.W.
    Science 240:622-630(1988) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  14. "Binding of a high reactive heparin to human apolipoprotein E: identification of two heparin-binding domains."
    Cardin A.D., Hirose N., Blankenship D.T., Jackson R.L., Harmony J.A.K., Sparrow D.A., Sparrow J.T.
    Biochem. Biophys. Res. Commun. 134:783-789(1986) [PubMed] [Europe PMC] [Abstract]
    Cited for: HEPARIN-BINDING SITES.
  15. "Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families."
    Corder E.H., Saunders A.M., Strittmatter W.J., Schmechel D.E., Gaskell P.C., Small G.W., Roses A.D., Haines J.L., Pericak-Vance M.A.
    Science 261:921-923(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION OF APOE*4 WITH ALZHEIMER DISEASE.
  16. "Glycation of apolipoprotein E impairs its binding to heparin: identification of the major glycation site."
    Shuvaev V.V., Fujii J., Kawasaki Y., Itoh H., Hamaoka R., Barbier A., Ziegler O., Siest G., Taniguchi N.
    Biochim. Biophys. Acta 1454:296-308(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCATION AT LYS-93, IDENTIFICATION BY MASS SPECTROMETRY.
  17. "Enrichment of glycopeptides for glycan structure and attachment site identification."
    Nilsson J., Rueetschi U., Halim A., Hesse C., Carlsohn E., Brinkmalm G., Larson G.
    Nat. Methods 6:809-811(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT THR-212; THR-307 AND SER-308, STRUCTURE OF CARBOHYDRATES.
    Tissue: Cerebrospinal fluid.
  18. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  19. "LC-MS/MS characterization of O-glycosylation sites and glycan structures of human cerebrospinal fluid glycoproteins."
    Halim A., Ruetschi U., Larson G., Nilsson J.
    J. Proteome Res. 12:573-584(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION AT THR-26; THR-36 AND SER-314, IDENTIFICATION BY MASS SPECTROMETRY.
  20. "Three-dimensional structure of the LDL receptor-binding domain of human apolipoprotein E."
    Wilson C., Wardell M.R., Weisgraber K.H., Mahley R.W., Agard D.A.
    Science 252:1817-1822(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 41-184.
  21. "Novel mechanism for defective receptor binding of apolipoprotein E2 in type III hyperlipoproteinemia."
    Dong L.-M., Parkin S., Trakhanov S.D., Rupp B., Simmons T., Arnold K.S., Newhouse Y.M., Innerarity T.L., Weisgraber K.H.
    Nat. Struct. Biol. 3:718-722(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 41-181.
  22. "Conformational flexibility in the apolipoprotein E amino-terminal domain structure determined from three new crystal forms: implications for lipid binding."
    Segelke B.W., Forstner M., Knapp M., Trakhanov S.D., Parkin S., Newhouse Y.M., Bellamy H.D., Weisgraber K.H., Rupp B.
    Protein Sci. 9:886-897(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.85 ANGSTROMS) OF 22-165.
  23. "Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels."
    de Knijff P., van den Maagdenberg A.M.J.M., Frants R.R., Havekes L.M.
    Hum. Mutat. 4:178-194(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  24. "Molecular cloning of a human apolipoprotein E variant: E5 (Glu-3-->Lys)."
    Maeda H., Nakamura H., Kobori S., Okada M., Niki H., Ogura T., Hiraga S.
    J. Biochem. 105:491-493(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT E5 LYS-21.
  25. "Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127."
    Wardell M.R., Weisgraber K.H., Havekes L.M., Rall S.C. Jr.
    J. Biol. Chem. 264:21205-21210(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HLPP3 E3 LEIDEN GLU-VAL-GLN-ALA-MET-LEU-GLY-145 INS.
  26. "Apolipoprotein E-4 Philadelphia (Glu-13-->Lys,Arg-145-->Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia."
    Lohse P., Mann W.A., Stein E.A., Brewer H.B. Jr.
    J. Biol. Chem. 266:10479-10484(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HLPP3 E4 PHILADELPHIA LYS-31 AND CYS-163.
  27. "Characterization of five new mutants in the carboxyl-terminal domain of human apolipoprotein E: no cosegregation with severe hyperlipidemia."
    van den Maagdenberg A.M.J.M., Weng W., de Bruijn I.H., de Knijff P., Funke H., Smelt A.H.M., Leuven J.A.G., van 't Hooft F.M., Assmann G., Hofker M.H., Havekes L.M., Frants R.R.
    Am. J. Hum. Genet. 52:937-946(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLU-254; GLY-269; GLU-270; HIS-292 AND ARG-314.
  28. "Common and rare genotypes of human apolipoprotein E determined by specific restriction profiles of polymerase chain reaction-amplified DNA."
    Richard P., Thomas G., de Zulueta M.P., de Gennes J.-L., Thomas M., Cassaigne A., Bereziat G., Iron A.
    Clin. Chem. 40:24-29(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HLPP3 ARG-130; ASP-145; SER-154; CYS-160 AND CYS-176.
  29. "Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy."
    Oikawa S., Matsunaga A., Saito T., Sato H., Seki T., Hoshi K., Hayasaka K., Kotake H., Midorikawa H., Sekikawa A., Hara S., Abe K., Toyota T., Jingami H., Nakamura H., Sasaki J.
    J. Am. Soc. Nephrol. 8:820-823(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LPG PRO-163.
  30. "Apolipoprotein E R112; R251G: a carboxy-terminal variant found in patients with hyperlipidemia and coronary heart disease."
    Kang A.K., Jenkins D.J.A., Wolever T.M.S., Huff M.W., Maguire G.F., Connelly P.W., Hegele R.A.
    Mutat. Res. 382:57-65(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS E4/3 ARG-130 AND GLY-269.
  31. "A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy."
    Matsunaga A., Sasaki J., Komatsu T., Kanatsu K., Tsuji E., Moriyama K., Koga T., Arakawa K., Oikawa S., Saito T., Kita T., Doi T.
    Kidney Int. 56:421-427(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LPG CYS-43.
  32. "Familial splenomegaly: macrophage hypercatabolism of lipoproteins associated with apolipoprotein E mutation [apolipoprotein E (delta149 Leu)]."
    Nguyen T.T., Kruckeberg K.E., O'Brien J.F., Ji Z.-S., Karnes P.S., Crotty T.B., Hay I.D., Mahley R.W., O'Brien T.
    J. Clin. Endocrinol. Metab. 85:4354-4358(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SBHD LEU-167 DEL.
  33. "Apolipoprotein E3Basel: new insights into a highly conserved protein region."
    Miserez A.R., Scharnagl H., Muller P.Y., Mirsaidi R., Stahelin H.B., Monsch A., Marz W., Hoffmann M.M.
    Eur. J. Clin. Invest. 33:677-685(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT E3 BASEL VAL-124.
  34. "Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."
    Morabia A., Cayanis E., Costanza M.C., Ross B.M., Flaherty M.S., Alvin G.B., Das K., Gilliam T.C.
    Hum. Mol. Genet. 12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ARG-130 AND CYS-176.
  35. "Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation."
    Faivre L., Saugier-Veber P., Pais de Barros J.-P., Verges B., Couret B., Lorcerie B., Thauvin C., Charbonnier F., Huet F., Gambert P., Frebourg T., Duvillard L.
    Eur. J. Hum. Genet. 13:1186-1191(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SBHD LEU-167 DEL.
  36. "APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy."
    Rovin B.H., Roncone D., McKinley A., Nadasdy T., Korbet S.M., Schwartz M.M.
    N. Engl. J. Med. 357:2522-2524(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LPG CYS-43.
  37. "Quantitative detection of single amino acid polymorphisms by targeted proteomics."
    Su Z.D., Sun L., Yu D.X., Li R.X., Li H.X., Yu Z.J., Sheng Q.H., Lin X., Zeng R., Wu J.R.
    J. Mol. Cell Biol. 3:309-315(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HIS-64, IDENTIFICATION BY MASS SPECTROMETRY.
  38. "Apolipoprotein E gene mutations in subjects with mixed hyperlipidemia and a clinical diagnosis of familial combined hyperlipidemia."
    Solanas-Barca M., de Castro-Oros I., Mateo-Gallego R., Cofan M., Plana N., Puzo J., Burillo E., Martin-Fuentes P., Ros E., Masana L., Pocovi M., Civeira F., Cenarro A.
    Atherosclerosis 222:449-455(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HLPP3 SER-154, VARIANT LEU-167 DEL.
  39. Cited for: VARIANT FH LEU-167 DEL.

Entry informationi

Entry nameiAPOE_HUMAN
AccessioniPrimary (citable) accession number: P02649
Secondary accession number(s): B2RC15, C0JYY5, Q9P2S4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 21, 1986
Last sequence update: July 21, 1986
Last modified: October 29, 2014
This is version 194 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Protein Spotlight
    Protein Spotlight articles and cited UniProtKB/Swiss-Prot entries
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3