|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:AD3
gptkb:PSNL1
gptkb:PS1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
|
|
gptkbp:biologicalProcess
|
catalytic subunit of gamma-secretase
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
gptkb:presenilin-1
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000080815
5663
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:fullName
|
gptkb:presenilin-1
|
|
gptkbp:function
|
aspartic-type endopeptidase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
gptkb:Notch_signaling_pathway
neurogenesis
protein processing
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
9508
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PSEN1
|
|
gptkbp:interactsWith
|
gptkb:APP
gptkb:APH-1
gptkb:Nicastrin
gptkb:PEN-2
|
|
gptkbp:involvedIn
|
gptkb:gamma-secretase_complex
|
|
gptkbp:length
|
467 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_14
14q24.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ClinVar
gptkb:HGMD
gptkb:Alzforum_Mutations_Database
gptkb:early-onset_familial_Alzheimer's_disease
nonsense
missense
frameshift
|
|
gptkbp:OMIM
|
104311
|
|
gptkbp:orthologInMouse
|
gptkb:Psen1
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
gptkb:Alzheimer_disease_pathway
Amyloid fiber formation
|
|
gptkbp:regulates
|
amyloid precursor protein processing
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:subcellularLocation
|
gptkb:endoplasmic_reticulum
gptkb:Golgi_apparatus
gptkb:plasma_membrane
|
|
gptkbp:UniProtID
|
P49768
|
|
gptkbp:bfsParent
|
gptkb:chromosome_14
gptkb:LRRTM3
gptkb:Alzheimer's_disease_pathway
|
|
gptkbp:bfsLayer
|
7
|