User:JonSDSUGrad/Sandbox/TEST APP

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amyloid beta (A4) precursor protein (peptidase nexin-II
Identifiers
Symbol(s)	APP; AAA; ABETA; ABPP; AD1; APPI; CTFgamma; CVAP; PN2
External IDs	OMIM: 104760 MGI: 88059 HomoloGene: 56379
Gene ontology Molecular Function: • G2 phase of mitotic cell cycle • suckling behavior • DNA binding • serine-type endopeptidase inhibitor activity • binding • iron ion binding • copper ion binding • extracellular region • membrane fraction • cytoplasm • Golgi apparatus • integral to plasma membrane • coated pit • mRNA polyadenylation • copper ion homeostasis • endocytosis • apoptosis • cell adhesion • Notch signaling pathway • axonogenesis • mating behavior • axon cargo transport • heparin binding • zinc ion binding • adult locomotory behavior • visual learning • cell surface • membrane • integral to membrane • axon midline choice point recognition • neuron remodeling • dendrite development • extracellular matrix organization and biogenesis • axon • forebrain development • cytoplasmic vesicle • neuromuscular junction • ciliary rootlet • regulation of body size • identical protein binding • apical part of cell • positive regulation of progression through mitotic cell cycle • positive regulation of transcription from RNA polymerase II promoter • metal ion binding • perinuclear region of cytoplasm • collateral sprouting in the absence of injury • regulation of synapse structure and activity • regulation of balance • neuromuscular process • synaptic growth at neuromuscular junction • spindle midzone • smooth endoplasmic reticulum calcium ion homeostasis
Orthologs
	Human	Mouse
Entrez	351	11820
Ensembl	ENSG00000142192	ENSMUSG00000022892
Uniprot	P05067	P12023
Refseq	NM_000484 (mRNA) NP_000475 (protein)	NM_007471 (mRNA) NP_031497 (protein)
Location	Chr 21: 26.17 - 26.47 Mb	Chr 16: 84.84 - 85.06 Mb
Pubmed search	[1]	[2]

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. 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.