|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:AD3
gptkb:PSNL1
gptkb:PS1
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
gptkb:familial_Alzheimer's_disease
|
|
gptkbp:biologicalProcess
|
gptkb:Wnt_signaling_pathway
cell signaling
regulation of apoptosis
neurogenesis
neuronal development
autophagy regulation
cell adhesion
synaptic function
axon guidance
calcium homeostasis
aspartyl protease activity
|
|
gptkbp:discoveredBy
|
Levy-Lahad et al.
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
gptkb:presenilin-1
|
|
gptkbp:Entrez_Gene_ID
|
5663
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:fullName
|
presenilin 1
|
|
gptkbp:function
|
component of gamma-secretase complex
involved in proteolytic processing of amyloid precursor protein
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
9508
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
PSEN1 gene
|
|
gptkbp:length
|
467 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_14
14q24.2
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
frameshift
splice site
causes early-onset Alzheimer's disease
|
|
gptkbp:OMIM
|
104311
|
|
gptkbp:orthologInMouse
|
gptkb:Psen1
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
gptkb:Alzheimer_disease_pathway
Amyloid fiber formation
|
|
gptkbp:proteinFamily
|
presenilin family
|
|
gptkbp:subcellularLocation
|
gptkb:Golgi_apparatus_membrane
gptkb:nuclear_membrane
gptkb:plasma_membrane
endoplasmic reticulum membrane
|
|
gptkbp:UniProtID
|
P49768
|
|
gptkbp:bfsParent
|
gptkb:presenilin-1
|
|
gptkbp:bfsLayer
|
8
|