APP gene

GPTKB entity

Statements (111)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:Alzheimer's_disease
gptkbp:biologicalProcess cell surface receptor
cell adhesion
precursor of amyloid beta peptide
gptkbp:cleavage gptkb:alpha-secretase
gptkb:beta-secretase
gptkb:gamma-secretase
gptkbp:discoveredBy Tanzi et al.
gptkbp:discoveredIn 1987
gptkbp:encodes gptkb:amyloid_precursor_protein
gptkbp:Entrez_Gene_ID 351
ENSG00000142192
gptkbp:expressedIn gptkb:skeletal_muscle
brain
many tissues
gptkbp:fullName amyloid beta precursor protein
gptkbp:hasIsoform gptkb:APP695
gptkb:APP751
gptkb:APP770
gptkbp:HGNC_ID HGNC:620
https://www.w3.org/2000/01/rdf-schema#label APP gene
gptkbp:length 770 amino acids (canonical isoform)
gptkbp:locatedOnChromosome chromosome 21
gptkbp:mutationAssociatedWith gptkb:early-onset_familial_Alzheimer's_disease
gptkbp:OMIM 104760
gptkbp:orthologInMouse gptkb:mobile_application
gptkbp:producesFragment gptkb:amyloid_beta_peptide
soluble APP alpha
soluble APP beta
gptkbp:proteinFamily gptkb:zinc-binding_domain
transmembrane domain
cytoplasmic domain
acidic domain
Nuclear localization signal
Actin binding region
Alpha-helix region
Amyloidogenic region
Ankyrin binding region
Axonal transport signal
Aβ domain
Beta-sheet region
Calmodulin binding region
Casein kinase II phosphorylation site
Cell adhesion region
Cell signaling region
Coiled-coil region
Cysteine-rich region
Cytoskeletal binding region
Dimerization domain
Disordered region
E2 domain
ER retention signal
Endocytosis signal
Endoplasmic reticulum signal peptide
Endosomal targeting signal
Glycation site
Glycogen synthase kinase 3 phosphorylation site
Glycosaminoglycan-binding domain
Glycosylphosphatidylinositol (GPI) anchor signal
Golgi apparatus targeting signal
Golgi retention signal
GxxxG motif
Hydrophilic region
Hydrophobic region
Kunitz protease inhibitor domain
Leucine-rich region
Lipid raft targeting sequence
Lysine-rich region
Lysosomal targeting signal
Microtubule binding region
Mitochondrial targeting sequence
N-linked glycosylation sites
NPXY motif
Neurite outgrowth-promoting region
Neuroprotective region
Neurotoxic region
Non-amyloidogenic region
Nuclear export signal
Nuclear matrix targeting signal
O-linked glycosylation sites
Oligomerization domain
Palmitoylation site
Plasma membrane targeting signal
Proline-rich region
Protease recognition site
Protein kinase C phosphorylation site
Proteolytic cleavage site
Serine-rich region
Signal-anchor sequence
Spectrin binding region
Sumoylation site
Synaptic vesicle targeting signal
Synaptogenic region
Threonine-rich region
Trans-Golgi network targeting sequence
Tubulin binding region
Tyrosine kinase phosphorylation site
Tyrosine-rich region
Ubiquitination site
YENPTY motif
copper-binding domain
growth factor-like domain
heparin-binding domain
phosphorylation sites
signal peptide
gptkbp:UniProtID gptkb:P05067
gptkbp:bfsParent gptkb:Amyloid_beta_A4_protein
gptkb:amyloid_beta_protein
gptkbp:bfsLayer 7