BACE1 gene

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName Aspartyl protease 2
Beta-site APP-cleaving enzyme 1
Memapsin-2
gptkbp:associatedWith gptkb:Alzheimer's_disease
gptkbp:cleavage neuregulin-1
amyloid precursor protein (APP)
seizure protein 6 (SEZ6)
voltage-gated sodium channel beta-2 subunit
gptkbp:clinicalTrialPhase Alzheimer's disease therapies
gptkbp:discoveredBy Vassar et al., 1999
gptkbp:encodes Beta-secretase 1 protein
gptkbp:Entrez_Gene_ID gptkb:ENSG00000186318
23621
gptkbp:expressedIn gptkb:skeletal_muscle
brain
pancreas
gptkbp:fullName gptkb:Beta-secretase_1
gptkbp:function involved in the generation of beta-amyloid peptides
encodes an aspartic protease involved in amyloid precursor protein processing
gptkbp:GO_term GO:0007268 (synaptic transmission)
GO:0006508 (proteolysis)
GO:0004190 (aspartic-type endopeptidase activity)
gptkbp:HGNC_ID 933
https://www.w3.org/2000/01/rdf-schema#label BACE1 gene
gptkbp:involvedIn amyloidogenic pathway
gptkbp:length 501 amino acids
gptkbp:locatedOnChromosome chromosome 11
11q23.3
gptkbp:mutationAssociatedWith may alter risk of Alzheimer's disease
gptkbp:OMIM 605262
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn Mus musculus (mouse)
Danio rerio (zebrafish)
Rattus norvegicus (rat)
gptkbp:pathway KEGG hsa05010 (Alzheimer's disease)
Reactome R-HSA-977225 (Amyloid fiber formation)
UniPathway UPA00196 (Amyloid precursor protein processing)
gptkbp:product type I transmembrane protein
gptkbp:proteinFamily gptkb:peptidase_A1_family
gptkbp:regulates expression increased in Alzheimer's disease brains
expression regulated by hypoxia
expression regulated by oxidative stress
gptkbp:subcellularLocation gptkb:endosome
gptkb:cell_membrane
gptkb:Golgi_apparatus
cell surface
gptkbp:target BACE1 inhibitors
gptkbp:UniProtID P56817
gptkbp:bfsParent gptkb:BACE1
gptkbp:bfsLayer 8