|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:cardiovascular_disease
cholesterol metabolism
|
|
gptkbp:biologicalProcess
|
cholesterol homeostasis
lipid transport
neuronal repair
|
|
gptkbp:discoveredBy
|
gptkb:Allen_Roses
|
|
gptkbp:encodes
|
gptkb:apolipoprotein_E
|
|
gptkbp:Entrez_Gene_ID
|
348
|
|
gptkbp:expressedIn
|
brain
liver
macrophages
|
|
gptkbp:firstDescribed
|
1973
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
gptkb:Apolipoprotein_E_gene
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasAllele
|
gptkb:APOE_ε2
gptkb:APOE_ε3
gptkb:APOE_ε4
|
|
gptkbp:hasPolymorphism
|
gptkb:rs429358
gptkb:rs7412
|
|
gptkbp:HGNC_ID
|
HGNC:613
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
APOE gene
|
|
gptkbp:length
|
3593 base pairs
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_19
19q13.32
|
|
gptkbp:mutationAssociatedWith
|
protective effect against Alzheimer's disease (ε2 allele)
increased risk of late-onset Alzheimer's disease (ε4 allele)
most common allele is ε3
|
|
gptkbp:numberOfExons
|
4
|
|
gptkbp:OMIM
|
107741
|
|
gptkbp:orthologInChimpanzee
|
gptkb:APOE
|
|
gptkbp:orthologInCow
|
gptkb:APOE
|
|
gptkbp:orthologInDog
|
gptkb:APOE
|
|
gptkbp:orthologInMouse
|
gptkb:Apoe
|
|
gptkbp:pathway
|
gptkb:Alzheimer's_disease_pathway
lipoprotein metabolism
reverse cholesterol transport
|
|
gptkbp:product
|
299 amino acids
|
|
gptkbp:proteinFamily
|
lipid-binding domain
receptor-binding domain
|
|
gptkbp:regulates
|
regulated by LXR
regulated by SREBP2
|
|
gptkbp:symbol
|
gptkb:APOE
|
|
gptkbp:UniProtID
|
P02649
|
|
gptkbp:bfsParent
|
gptkb:APOE-e4_allele
|
|
gptkbp:bfsLayer
|
5
|