Gene

APP

Species
Homo sapiens
Symbol
APP
Name
amyloid beta precursor protein
Synonyms
  • AAA
  • ABETA
Biotype
protein coding gene
Automated Description
Enables several functions, including PTB domain binding activity; protein dimerization activity; and signaling receptor binding activity. Involved in several processes, including modulation of chemical synaptic transmission; positive regulation of metabolic process; and regulation of signal transduction. Acts upstream of with a positive effect on phospholipase D-activating G protein-coupled receptor signaling pathway. Acts upstream of or within regulation of gene expression. Located in several cellular components, including cytoplasmic vesicle; dendrite; and nuclear envelope lumen. Part of several cellular components, including amyloid-beta complex; low-density lipoprotein particle; and triglyceride-rich plasma lipoprotein particle. Is active in dendrite and extracellular space. Implicated in APP-related cerebral amyloid angiopathy; Alzheimer's disease; Alzheimer's disease 1; cognitive disorder; and traumatic brain injury. Biomarker of Alzheimer's disease; obesity; and periodontitis.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR23103
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
25.90M25.95M26.00M26.05M26.10M26.15M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions