|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alias
|
gptkb:PSEN1
gptkb:AD3
gptkb:PS-1
gptkb:PSNL1
gptkb:S182
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
|
|
gptkbp:cleavage
|
gptkb:Notch_receptor
gptkb:amyloid_precursor_protein
|
|
gptkbp:component
|
gptkb:gamma-secretase_complex
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodedBy
|
gptkb:PSEN1_gene
|
|
gptkbp:Entrez_Gene_ID
|
5663
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
proteolytic cleavage of type I transmembrane proteins
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
presenilin-1
|
|
gptkbp:interactsWith
|
gptkb:APH-1
gptkb:PEN-2
gptkb:nicastrin
gptkb:beta-catenin
gptkb:Notch_receptor
|
|
gptkbp:location
|
gptkb:chromosome_14q24.3
|
|
gptkbp:molecularWeight
|
approximately 50 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:early-onset_familial_Alzheimer's_disease
|
|
gptkbp:OMIM
|
104311
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
|
|
gptkbp:subcellularLocation
|
gptkb:endoplasmic_reticulum
gptkb:Golgi_apparatus
gptkb:plasma_membrane
|
|
gptkbp:transmembraneDomains
|
9
|
|
gptkbp:UniProtID
|
P49768
|
|
gptkbp:bfsParent
|
gptkb:Alzheimer's_disease_pathway
|
|
gptkbp:bfsLayer
|
7
|