APP

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]

Description

Amyloid beta precursor protein

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Vesicles

Predicted location

Intracellular, Membrane, Secreted to blood

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

21 (25880550 - 26171128)

Ensembl ID

ENSG00000142192  (ver. 103.38)

Orthologs

Mouse App: ENSMUSG00000022892

UniProt

P05067

neXtProt

NX_P05067

Human splice variants
Mouse splice variants

Protein structure