APP amyloid beta (A4) precursor protein [Homo sapiens (human)]

Gene Symbol	APP
Entrez Gene ID	351
Full Name	amyloid beta (A4) precursor protein
Synonyms	AAA, ABETA, ABPP, AD1, APPI, CTFgamma, CVAP, PN2
Gene Type	protein-coding
Organism	Homo sapiens (human)
Genome	Chromosome:21 Map Location:21q21.2\|21q21.3
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. 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].
Disorder	MIM: 104760 Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic

mRNA	NM_001204301, 324021737
Protein	NP_001191230, 324021738
Product	amyloid beta A4 protein isoform h precursor
RefSeq Status	REVIEWED
mRNA	NM_001204302, 324021735
Protein	NP_001191231, 324021736
Product	amyloid beta A4 protein isoform i precursor
RefSeq Status	REVIEWED
mRNA	NM_001204303, 324021739
Protein	NP_001191232, 324021740
Product	amyloid beta A4 protein isoform j precursor
RefSeq Status	REVIEWED
mRNA	NM_001136130, 228008401
Protein	NP_001129602, 209915573
Product	amyloid beta A4 protein isoform f precursor
RefSeq Status	REVIEWED
mRNA	NM_001136129, 228008402
Protein	NP_001129601, 209915570
Product	amyloid beta A4 protein isoform e precursor
RefSeq Status	REVIEWED
mRNA	NM_000484, 228008403
Protein	NP_000475, 4502167
Product	amyloid beta A4 protein isoform a precursor
RefSeq Status	REVIEWED
mRNA	NM_201413, 228008404
Protein	NP_958816, 41406055
Product	amyloid beta A4 protein isoform b precursor
RefSeq Status	REVIEWED
mRNA	NM_201414, 228008405
Protein	NP_958817, 41406057
Product	amyloid beta A4 protein isoform c precursor
RefSeq Status	REVIEWED
mRNA	NM_001136016, 324021746
Protein	NP_001129488, 209862833
Product	amyloid beta A4 protein isoform d
RefSeq Status	REVIEWED
mRNA	NM_001136131, 324021747
Protein	NP_001129603, 209915575
Product	amyloid beta A4 protein isoform g
RefSeq Status	REVIEWED

KEGG

hsa05010

Alzheimer's disease

WikiPathways

WP61	Delta-Notch Signaling Pathway

Pathway Interaction Database

caspase_pathway	Caspase cascade in apoptosis
glypican_1pathway	Glypican 1 network
p75ntrpathway	p75(NTR)-mediated signaling

Reactome

REACT_25359	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
REACT_1280	Response to elevated platelet cytosolic Ca2+
REACT_18283	G alpha (q) signalling events
REACT_8006	Toll Like Receptor TLR6:TLR2 Cascade
REACT_21264	Formyl peptide receptors bind formyl peptides and many other ligands
REACT_6976	Viral dsRNA:TLR3:TRIF Complex Activates RIP1
REACT_21340	GPCR ligand binding
REACT_25222	MyD88 dependent cascade initiated on endosome
REACT_604	Hemostasis
REACT_318	Platelet degranulation
REACT_25024	TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
REACT_19231	G alpha (i) signalling events
REACT_6802	Innate Immunity Signaling
REACT_9020	Toll Like Receptor 7/8 (TLR7/8) Cascade
REACT_6783	Toll Like Receptor 3 (TLR3) Cascade
REACT_25281	NFkB and MAP kinases activation mediated by TLR4 signaling repertoire
REACT_6809	MyD88-independent cascade initiated on plasma membrane
REACT_8005	Toll Like Receptor TLR1:TLR2 Cascade
REACT_6966	Toll Receptor Cascades
REACT_20	Formation of Platelet plug
REACT_6788	MyD88:Mal cascade initiated on plasma membrane
REACT_9047	Toll Like Receptor 9 (TLR9) Cascade
REACT_14797	Signaling by GPCR
REACT_14819	Peptide ligand-binding receptors
REACT_24969	TRAF6 mediated NF-kB activation
REACT_25195	Advanced glycosylation endproduct receptor signaling
REACT_6894	Toll Like Receptor 4 (TLR4) Cascade
REACT_6900	Signaling in Immune system
REACT_6782	TRAF6 Mediated Induction of proinflammatory cytokines
REACT_21281	human TAK1 activates NFkB by phosphorylation and activation of IKKs complex
REACT_19184	GPCR downstream signaling
REACT_6890	Activated TLR4 signalling
REACT_14828	Class A/1 (Rhodopsin-like receptors)
REACT_798	Platelet Activation
REACT_7980	Toll Like Receptor 2 Cascade

Homo sapiens (human)	APP	NP_958817.1
Pan troglodytes (chimpanzee)	APP	NP_001013036.1
Canis lupus familiaris (dog)	APP	NP_001006601.1
Bos taurus (cattle)	APP	NP_001070264.1
Mus musculus (house mouse)	App	NP_031497.2
Rattus norvegicus (Norway rat)	App	NP_062161.1
Gallus gallus (chicken)	APP	NP_989639.1
Danio rerio (zebrafish)	appa	NP_571639.1
Drosophila melanogaster (fruit fly)	Appl	NP_476626.2
Caenorhabditis elegans	apl-1	NP_508871.1

Process

ID	Name	Evidence
GO:0000085	G2 phase of mitotic cell cycle	ISS
GO:0001967	suckling behavior	IEA
GO:0002576	platelet degranulation	TAS
GO:0006378	mRNA polyadenylation	ISS
GO:0006417	regulation of translation	ISS
GO:0006468	protein phosphorylation	ISS
GO:0006878	cellular copper ion homeostasis	ISS
GO:0006897	endocytosis	ISS
GO:0006917	induction of apoptosis	IEA
GO:0007155	cell adhesion	IEA
GO:0007176	regulation of epidermal growth factor receptor activity	ISS
GO:0007219	Notch signaling pathway	IEA
GO:0007409	axonogenesis	ISS
GO:0007596	blood coagulation	TAS
GO:0007617	mating behavior	ISS
GO:0007626	locomotory behavior	ISS
GO:0008088	axon cargo transport	ISS
GO:0008219	cell death	IEA
GO:0008344	adult locomotory behavior	ISS
GO:0008542	visual learning	ISS
GO:0016199	axon midline choice point recognition	ISS
GO:0016322	neuron remodeling	ISS
GO:0016358	dendrite development	ISS
GO:0030168	platelet activation	TAS
GO:0030198	extracellular matrix organization	ISS
GO:0030900	forebrain development	IEA
GO:0031175	neuron projection development	ISS
GO:0035235	ionotropic glutamate receptor signaling pathway	ISS
GO:0040014	regulation of multicellular organism growth	ISS
GO:0045087	innate immune response	TAS
GO:0045665	negative regulation of neuron differentiation	IEA
GO:0045931	positive regulation of mitotic cell cycle	ISS
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA
GO:0048669	collateral sprouting in absence of injury	ISS
GO:0050803	regulation of synapse structure and activity	ISS
GO:0050885	neuromuscular process controlling balance	IEA
GO:0051124	synaptic growth at neuromuscular junction	IEA
GO:0051402	neuron apoptosis	IMP
GO:0051563	smooth endoplasmic reticulum calcium ion homeostasis	IEA

Component

ID	Name	Evidence
GO:0005576	extracellular region	EXP
GO:0005576	extracellular region	TAS
GO:0005737	cytoplasm	IDA
GO:0005737	cytoplasm	ISS
GO:0005794	Golgi apparatus	IDA
GO:0005794	Golgi apparatus	ISS
GO:0005886	plasma membrane	IDA
GO:0005887	integral to plasma membrane	TAS
GO:0005905	coated pit	IEA
GO:0009986	cell surface	IDA
GO:0016021	integral to membrane	ISS
GO:0019717	synaptosome	IEA
GO:0030424	axon	ISS
GO:0031093	platelet alpha granule lumen	TAS
GO:0031410	cytoplasmic vesicle	IEA
GO:0031594	neuromuscular junction	IEA
GO:0035253	ciliary rootlet	IEA
GO:0043197	dendritic spine	IDA
GO:0043198	dendritic shaft	IDA
GO:0043231	intracellular membrane-bounded organelle	IDA
GO:0045177	apical part of cell	IEA
GO:0045202	synapse	IDA
GO:0048471	perinuclear region of cytoplasm	IEA
GO:0051233	spindle midzone	IEA

Function

ID	Name	Evidence
GO:0003677	DNA binding	ISS
GO:0004867	serine-type endopeptidase inhibitor activity	IDA
GO:0005102	receptor binding	IPI
GO:0005515	protein binding	IPI
GO:0008201	heparin binding	IEA
GO:0016504	peptidase activator activity	IEA
GO:0030414	peptidase inhibitor activity	IEA
GO:0033130	acetylcholine receptor binding	IPI
GO:0042802	identical protein binding	IPI
GO:0046872	metal ion binding	IEA
GO:0051425	PTB domain binding	IPI

GeneCards	APP
PDB	3IFO, 2R0W, 1UOA, 3L81, 2FK3, 1TAW, 3L33, 2FMA, 3DXC, 1Z0Q, 3IFP, 1TKN, 1QCM, 1BA6, 3GCI, 1QYT, 3IFN, 1BJB, 3MOQ, 2FKL, 1CA0, 1UO8, 1BA4, 1BRC, 2WK3, 1AAP, 3DXE, 1QWP, 1X11, 1ZE9, 3DXD, 1IYT, 1QXC, 2OTK, 2IPU, 1ZE7, 3KTM, 2BEG, 1UOI, 1AMB, 3IFL, 1RW6, 1OWT, 1UO7, 3JTI, 1AML, 1AMC, 2BP4, 1ZJD, 2BOM, 2FK1, 1BJC, 2G47, 2FJZ, 2FK2, 1MWP, 1HZ3
UniProt	E9PG40, B4DGD0, P05067
MIM	104760
Ensembl	ENSG00000142192
HGNC	620
HPRD	00100

RefSeq Accession	Definition	Sequence	Price	Select
NM_001204301	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 8, mRNA.	Full Length	$1257.90
NM_001204301		ORF Sequence	$655.11
NM_001204302	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 9, mRNA.	Full Length	$1237.95
NM_001204302		ORF Sequence	$638.58
NM_001204303	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 10, mRNA.	Full Length	$1179.15
NM_001204303		ORF Sequence	$589.86
NM_001136130	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 6, mRNA.	Full Length	$1218.00
NM_001136130		ORF Sequence	$622.05
NM_001136129	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 5, mRNA.	Full Length	$1139.25
NM_001136129		ORF Sequence	$556.80
NM_000484	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	Full Length	$1276.80
NM_000484		ORF Sequence	$670.77
NM_201413	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 2, mRNA.	Full Length	$1256.85
NM_201413		ORF Sequence	$654.24
NM_201414	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 3, mRNA.	Full Length	$1198.05
NM_201414		ORF Sequence	$605.52
NM_001136016	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 4, mRNA.	Full Length	$1250.20
NM_001136016		ORF Sequence	$649.89
NM_001136131	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 7, mRNA.	Full Length	$1158.50
NM_001136131		ORF Sequence	$575.07

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