| Comment type | Description |
|---|
| Disease | Alzheimer disease 2 (AD2) [MIM |
| Disease | Familial hypercholesterolemia (FH) [MIM |
| Disease | Hyperlipoproteinemia 3 (HLPP3) [MIM |
| Disease | Lipoprotein glomerulopathy (LPG) [MIM |
| Disease | Sea-blue histiocyte disease (SBHD) [MIM |
| Function | 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. |
| Interaction | Q16543:CDC37; NbExp=3; IntAct=EBI-1222467, EBI-295634; Q9BQ95:ECSIT; NbExp=4; IntAct=EBI-1222467, EBI-712452; P00738:HP; NbExp=7; IntAct=EBI-1222467, EBI-1220767; P01130:LDLR; NbExp=2; IntAct=EBI-1222467, EBI-988319; Q14114:LRP8; NbExp=2; IntAct=EBI-1222467, EBI-2681187; P10636:MAPT; NbExp=3; IntAct=EBI-9209835, EBI-366182; Q53EL6:PDCD4; NbExp=3; IntAct=EBI-1222467, EBI-935824; P50502:ST13; NbExp=3; IntAct=EBI-1222467, EBI-357285; O75069:TMCC2; NbExp=5; IntAct=EBI-1222467, EBI-726731; |
| Polymorphism | 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. |
| Ptm | Glycated in plasma VLDL of normal subjects, and of hyperglycemic diabetic patients at a higher level (2-3 fold). |
| Ptm | Phosphorylation sites are present in the extracellular medium. |
| Ptm | 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. |
| Similarity | Belongs to the apolipoprotein A1/A4/E family. |
| Subcellular Location | Secreted. |
| Tissue Specificity | 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. |
| Web Resource | Name=Protein Spotlight; Note=Tangled - Issue 83 of June 2007; URL="http://web.expasy.org/spotlight/back_issues/083"; |
| Web Resource | Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOE"; |
| Web Resource | Name=Wikipedia; Note=Apolipoprotein E entry; URL="http://en.wikipedia.org/wiki/Apolipoprotein_E"; |