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 |
|---|---|---|---|---|---|
OMIM IDMIM:104760 Ensembl IDEnsembl:ENSG00000142192 HGNC IDHGNC:HGNC:620 PHARMGKB IDPA24910 Map Location21q21.3 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in APP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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