|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:AD3
gptkb:PS1
PSEN-1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Alzheimer's_disease
|
|
gptkbp:component
|
gptkb:gamma-secretase_complex
|
|
gptkbp:discoveredBy
|
Levy-Lahad et al.
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
presenilin-1 protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000080815
5662
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
|
|
gptkbp:fullName
|
presenilin 1
|
|
gptkbp:function
|
proteolysis
aspartic-type endopeptidase activity
gamma-secretase activity
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOProcess
|
neurogenesis
protein processing
|
|
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:length
|
467 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_14
|
|
gptkbp:location
|
14q24.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:early-onset_familial_Alzheimer's_disease
nonsense
missense
frameshift
|
|
gptkbp:numberOfExons
|
12
|
|
gptkbp:OMIM
|
104311
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
|
|
gptkbp:pathway
|
gptkb:Notch_signaling_pathway
Amyloid precursor protein processing
|
|
gptkbp:proteinFamily
|
presenilin family
|
|
gptkbp:RefSeq
|
NM_000021
|
|
gptkbp:significance
|
pathogenic
|
|
gptkbp:subcellularLocation
|
gptkb:endoplasmic_reticulum
gptkb:Golgi_apparatus
gptkb:plasma_membrane
|
|
gptkbp:UniProtID
|
P49768
|
|
gptkbp:bfsParent
|
gptkb:PSEN1
|
|
gptkbp:bfsLayer
|
8
|