APP
Summary: This gene encodes a cell surface receptor and transmembrane precursor protein that is cleaved by secretases to form a number of peptides. Some of these peptides are secreted and can bind to the acetyltransferase complex APBB1/TIP60 to promote transcriptional activation, while others form the protein basis of the amyloid plaques found in the brains of patients with Alzheimer disease. In addition, two of the peptides are antimicrobial peptides, having been shown to have bacteriocidal and antifungal activities. Mutations in this gene have been implicated in autosomal dominant Alzheimer disease and cerebroarterial amyloidosis (cerebral amyloid angiopathy). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Aug 2014].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| amyloid beta precursor protein | MIM:104760 | Ensembl:ENSG00000142192 | HGNC:HGNC:620 | PA24910 | 21q21.3 |
GO terms in APP
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005641 | nuclear envelope lumen |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005768 | endosome |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | IEA | GO:0005790 | smooth endoplasmic reticulum |
| CC | IEA | GO:0005791 | rough endoplasmic reticulum |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | ISS | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005796 | Golgi lumen |
| CC | TAS | GO:0005829 | cytosol |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IEA | GO:0005905 | clathrin-coated pit |
| CC | IEA | GO:0005911 | cell-cell junction |
| CC | IDA | GO:0009986 | cell surface |
| CC | ISS | GO:0016021 | integral component of membrane |
| CC | IEA | GO:0030134 | COPII-coated ER to Golgi transport vesicle |
| CC | ISS | GO:0030424 | axon |
| CC | TAS | GO:0031093 | platelet alpha granule lumen |
| CC | IEA | GO:0031594 | neuromuscular junction |
| CC | TAS | GO:0031904 | endosome lumen |
| CC | TAS | GO:0032588 | trans-Golgi network membrane |
| CC | IEA | GO:0035253 | ciliary rootlet |
| CC | IDA | GO:0043197 | dendritic spine |
| CC | IDA | GO:0043198 | dendritic shaft |
| CC | IDA | GO:0043235 | receptor complex |
| CC | IEA | GO:0044304 | main axon |
| CC | IDA | GO:0045121 | membrane raft |
| CC | IEA | GO:0045177 | apical part of cell |
| CC | IDA | GO:0045202 | synapse |
| CC | IDA | GO:0048471 | perinuclear region of cytoplasm |
| CC | IEA | GO:0051233 | spindle midzone |
| CC | HDA | GO:0070062 | extracellular exosome |
| CC | IEA | GO:0097449 | astrocyte projection |
| CC | IEA | GO:1990761 | growth cone lamellipodium |
| CC | IEA | GO:1990812 | growth cone filopodium |
| BP | IDA | GO:0001934 | positive regulation of protein phosphorylation |
| BP | IGI | GO:0001934 | positive regulation of protein phosphorylation |
| BP | IEA | GO:0001967 | suckling behavior |
| BP | IGI | GO:0002265 | astrocyte activation involved in immune response |
| BP | TAS | GO:0002576 | platelet degranulation |
| BP | ISS | GO:0006378 | mRNA polyadenylation |
| BP | ISS | GO:0006417 | regulation of translation |
| BP | ISS | GO:0006468 | protein phosphorylation |
| BP | ISS | GO:0006878 | cellular copper ion homeostasis |
| BP | ISS | GO:0006897 | endocytosis |
| BP | IEA | GO:0006979 | response to oxidative stress |
| BP | IEA | GO:0007155 | cell adhesion |
| BP | ISS | GO:0007176 | regulation of epidermal growth factor-activated receptor activity |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IEA | GO:0007219 | Notch signaling pathway |
| BP | ISS | GO:0007409 | axonogenesis |
| BP | IGI | GO:0007611 | learning or memory |
| BP | IMP | GO:0007611 | learning or memory |
| BP | TAS | GO:0007611 | learning or memory |
| BP | IMP | GO:0007612 | learning |
| BP | ISS | GO:0007617 | mating behavior |
| BP | ISS | GO:0007626 | locomotory behavior |
| BP | ISS | GO:0008088 | axo-dendritic transport |
| BP | IEA | GO:0008203 | cholesterol metabolic process |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | ISS | GO:0008344 | adult locomotory behavior |
| BP | ISS | GO:0008542 | visual learning |
| BP | IMP | GO:0009987 | cellular process |
| BP | IEA | GO:0010288 | response to lead ion |
| BP | IGI | GO:0010468 | regulation of gene expression |
| BP | IGI | GO:0010628 | positive regulation of gene expression |
| BP | IMP | GO:0010628 | positive regulation of gene expression |
| BP | IGI | GO:0010629 | negative regulation of gene expression |
| BP | IMP | GO:0010800 | positive regulation of peptidyl-threonine phosphorylation |
| BP | IEA | GO:0010951 | negative regulation of endopeptidase activity |
| BP | IEA | GO:0010952 | positive regulation of peptidase activity |
| BP | IEA | GO:0010971 | positive regulation of G2/M transition of mitotic cell cycle |
| BP | IGI | GO:0014005 | microglia development |
| BP | ISS | GO:0016199 | axon midline choice point recognition |
| BP | ISS | GO:0016322 | neuron remodeling |
| BP | ISS | GO:0016358 | dendrite development |
| BP | IC | GO:0030111 | regulation of Wnt signaling pathway |
| BP | ISS | GO:0030198 | extracellular matrix organization |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | IEA | GO:0030900 | forebrain development |
| BP | ISS | GO:0031175 | neuron projection development |
| BP | IGI | GO:0032092 | positive regulation of protein binding |
| BP | IGI | GO:0032640 | tumor necrosis factor production |
| BP | IMP | GO:0033138 | positive regulation of peptidyl-serine phosphorylation |
| BP | ISS | GO:0035235 | ionotropic glutamate receptor signaling pathway |
| BP | ISS | GO:0040014 | regulation of multicellular organism growth |
| BP | IGI | GO:0042327 | positive regulation of phosphorylation |
| BP | TAS | GO:0043687 | post-translational protein modification |
| BP | TAS | GO:0044267 | cellular protein metabolic process |
| BP | TAS | GO:0045087 | innate immune response |
| BP | IEA | GO:0045665 | negative regulation of neuron differentiation |
| BP | ISS | GO:0045931 | positive regulation of mitotic cell cycle |
| BP | IGI | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IGI | GO:0046330 | positive regulation of JNK cascade |
| BP | IGI | GO:0048143 | astrocyte activation |
| BP | IGI | GO:0048169 | regulation of long-term neuronal synaptic plasticity |
| BP | ISS | GO:0048669 | collateral sprouting in absence of injury |
| BP | IGI | GO:0050730 | regulation of peptidyl-tyrosine phosphorylation |
| BP | ISS | GO:0050803 | regulation of synapse structure or activity |
| BP | IGI | GO:0050808 | synapse organization |
| BP | IEA | GO:0050885 | neuromuscular process controlling balance |
| BP | IGI | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | IGI | GO:0051092 | positive regulation of NF-kappaB transcription factor activity |
| BP | IEA | GO:0051124 | synaptic growth at neuromuscular junction |
| BP | IMP | GO:0051247 | positive regulation of protein metabolic process |
| BP | ISS | GO:0051247 | positive regulation of protein metabolic process |
| BP | IMP | GO:0051402 | neuron apoptotic process |
| BP | IEA | GO:0051563 | smooth endoplasmic reticulum calcium ion homeostasis |
| BP | IGI | GO:0061890 | positive regulation of astrocyte activation |
| BP | IGI | GO:0070374 | positive regulation of ERK1 and ERK2 cascade |
| BP | IEA | GO:0071320 | cellular response to cAMP |
| BP | IEA | GO:0071874 | cellular response to norepinephrine stimulus |
| BP | IGI | GO:0090647 | modulation of age-related behavioral decline |
| BP | IMP | GO:0090647 | modulation of age-related behavioral decline |
| BP | TAS | GO:0090647 | modulation of age-related behavioral decline |
| BP | IGI | GO:0098815 | modulation of excitatory postsynaptic potential |
| BP | IGI | GO:0150003 | regulation of spontaneous synaptic transmission |
| BP | IGI | GO:1900272 | negative regulation of long-term synaptic potentiation |
| BP | IGI | GO:1900273 | positive regulation of long-term synaptic potentiation |
| BP | IGI | GO:1901224 | positive regulation of NIK/NF-kappaB signaling |
| BP | IGI | GO:1902004 | positive regulation of amyloid-beta formation |
| BP | IGI | GO:1903980 | positive regulation of microglial cell activation |
| BP | IGI | GO:1904646 | cellular response to amyloid-beta |
| BP | IGI | GO:1905598 | negative regulation of low-density lipoprotein receptor activity |
| BP | IMP | GO:1905908 | positive regulation of amyloid fibril formation |
| BP | IMP | GO:1990000 | amyloid fibril formation |
| BP | IEA | GO:1990090 | cellular response to nerve growth factor stimulus |
| BP | IGI | GO:1990535 | neuron projection maintenance |
| BP | TAS | GO:2000310 | regulation of NMDA receptor activity |
| BP | IMP | GO:2000406 | positive regulation of T cell migration |
| MF | ISS | GO:0003677 | DNA binding |
| MF | IDA | GO:0004867 | serine-type endopeptidase inhibitor activity |
| MF | IPI | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0008201 | heparin binding |
| MF | IEA | GO:0016504 | peptidase activator activity |
| MF | IPI | GO:0019899 | enzyme binding |
| MF | IPI | GO:0042802 | identical protein binding |
| MF | IEA | GO:0046914 | transition metal ion binding |
| MF | IPI | GO:0051425 | PTB domain binding |
| MF | IEA | GO:0070851 | growth factor receptor binding |
Gene expression in normal tissue: APP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in APP
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP2853 | Endoderm Differentiation |
| wikipathways | WP2864 | Apoptosis-related network due to altered Notch3 in ovarian cancer |
| wikipathways | WP3286 | Copper homeostasis |
| wikipathways | WP366 | TGF-beta Signaling Pathway |
| wikipathways | WP4115 | Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer,s disease models |
| pid | caspase_pathway | Caspase Cascade in Apoptosis |
| pid | glypican_1pathway | Glypican 1 network |
| pid | p75ntrpathway | p75(NTR)-mediated signaling |
| kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| netpath | Pathway_EGFR1 | EGFR1 |
| netpath | Pathway_Fibroblast__growth__factor-1 | Fibroblast growth factor-1 |
| netpath | Pathway_Notch | Notch |
| biocarta | apppathway | generation of amyloid b-peptide by ps1 |
| biocarta | plateletapppathway | platelet amyloid precursor protein pathway |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-114608 | Platelet degranulation |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-166016 | Toll Like Receptor 4 (TLR4) Cascade |
| reactome | R-HSA-166058 | MyD88:Mal cascade initiated on plasma membrane |
| reactome | R-HSA-166166 | MyD88-independent TLR4 cascade |
| reactome | R-HSA-168138 | Toll Like Receptor 9 (TLR9) Cascade |
| reactome | R-HSA-168142 | Toll Like Receptor 10 (TLR10) Cascade |
| reactome | R-HSA-168164 | Toll Like Receptor 3 (TLR3) Cascade |
| reactome | R-HSA-168176 | Toll Like Receptor 5 (TLR5) Cascade |
| reactome | R-HSA-168179 | Toll Like Receptor TLR1:TLR2 Cascade |
| reactome | R-HSA-168181 | Toll Like Receptor 7/8 (TLR7/8) Cascade |
| reactome | R-HSA-168188 | Toll Like Receptor TLR6:TLR2 Cascade |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168643 | Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways |
| reactome | R-HSA-168898 | Toll-Like Receptors Cascades |
| reactome | R-HSA-168928 | DDX58/IFIH1-mediated induction of interferon-alpha/beta |
| reactome | R-HSA-181438 | Toll Like Receptor 2 (TLR2) Cascade |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-199992 | trans-Golgi Network Vesicle Budding |
| reactome | R-HSA-3000178 | ECM proteoglycans |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-373076 | Class A/1 (Rhodopsin-like receptors) |
| reactome | R-HSA-375276 | Peptide ligand-binding receptors |
| reactome | R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
| reactome | R-HSA-421837 | Clathrin derived vesicle budding |
| reactome | R-HSA-432720 | Lysosome Vesicle Biogenesis |
| reactome | R-HSA-444473 | Formyl peptide receptors bind formyl peptides and many other ligands |
| reactome | R-HSA-445989 | TAK1 activates NFkB by phosphorylation and activation of IKKs complex |
| reactome | R-HSA-446652 | Interleukin-1 family signaling |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-500792 | GPCR ligand binding |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-622312 | Inflammasomes |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76005 | Response to elevated platelet cytosolic Ca2+ |
| reactome | R-HSA-844456 | The NLRP3 inflammasome |
| reactome | R-HSA-879415 | Advanced glycosylation endproduct receptor signaling |
| reactome | R-HSA-879415 | Advanced glycosylation endproduct receptor signaling |
| reactome | R-HSA-8862803 | Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models |
| reactome | R-HSA-8863678 | Neurodegenerative Diseases |
| reactome | R-HSA-8957275 | Post-translational protein phosphorylation |
| reactome | R-HSA-9020702 | Interleukin-1 signaling |
| reactome | R-HSA-933542 | TRAF6 mediated NF-kB activation |
| reactome | R-HSA-937061 | TRIF(TICAM1)-mediated TLR4 signaling |
| reactome | R-HSA-975138 | TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation |
| reactome | R-HSA-975155 | MyD88 dependent cascade initiated on endosome |
| reactome | R-HSA-975871 | MyD88 cascade initiated on plasma membrane |
| reactome | R-HSA-977225 | Amyloid fiber formation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in APP
CLASSFICATION
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