Homo sapiens Gene: APP
Summary
InnateDB Gene IDBG-1100.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APP
Gene Name amyloid beta (A4) precursor protein
Synonyms AAA; ABETA; ABPP; AD1; APPI; CTFgamma; CVAP; PN-II; PN2;
Species Homo sapiens
Ensembl Gene ENSG00000142192
Encoded Proteins
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
amyloid beta (A4) precursor protein
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:25880550-26171128
Strand Reverse strand
Band q21.3
Transcripts
ENST00000346798 ENSP00000284981
ENST00000358918 ENSP00000351796
ENST00000357903 ENSP00000350578
ENST00000359726 ENSP00000352760
ENST00000348990 ENSP00000345463
ENST00000354192 ENSP00000346129
ENST00000439274 ENSP00000398879
ENST00000440126 ENSP00000387483
ENST00000448850 ENSP00000396923
ENST00000415997 ENSP00000406539
ENST00000464867
ENST00000491395
ENST00000474136
ENST00000463070
ENST00000462267
ENST00000466453
ENST00000548570
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2628 experimentally validated interaction(s) in this database.
They are also associated with 31 interaction(s) predicted by orthology.
Experimentally validated
Total 2628 [view]
Protein-Protein 2625 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 31 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0004867 serine-type endopeptidase inhibitor activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0008201 heparin binding
GO:0016504 peptidase activator activity
GO:0019899 enzyme binding
GO:0033130 acetylcholine receptor binding
GO:0042802 identical protein binding
GO:0046914 transition metal ion binding
GO:0051425 PTB domain binding
GO:0070851 growth factor receptor binding
Biological Process
GO:0000085 mitotic G2 phase
GO:0001967 suckling behavior
GO:0002576 platelet degranulation
GO:0006378 mRNA polyadenylation
GO:0006417 regulation of translation
GO:0006468 protein phosphorylation
GO:0006878 cellular copper ion homeostasis
GO:0006897 endocytosis
GO:0006979 response to oxidative stress
GO:0007155 cell adhesion
GO:0007176 regulation of epidermal growth factor-activated receptor activity
GO:0007219 Notch signaling pathway
GO:0007399 nervous system development
GO:0007409 axonogenesis
GO:0007596 blood coagulation
GO:0007617 mating behavior
GO:0007626 locomotory behavior
GO:0008088 axon cargo transport
GO:0008203 cholesterol metabolic process
GO:0008344 adult locomotory behavior
GO:0008542 visual learning
GO:0010468 regulation of gene expression
GO:0010951 negative regulation of endopeptidase activity
GO:0010952 positive regulation of peptidase activity
GO:0010971 positive regulation of G2/M transition of mitotic cell cycle
GO:0016199 axon midline choice point recognition
GO:0016322 neuron remodeling
GO:0016358 dendrite development
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030900 forebrain development
GO:0031175 neuron projection development
GO:0035235 ionotropic glutamate receptor signaling pathway
GO:0035872 nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway
GO:0040014 regulation of multicellular organism growth
GO:0043393 regulation of protein binding
GO:0045087 innate immune response
GO:0045665 negative regulation of neuron differentiation
GO:0045931 positive regulation of mitotic cell cycle
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048669 collateral sprouting in absence of injury
GO:0050803 regulation of synapse structure and activity
GO:0050885 neuromuscular process controlling balance
GO:0051124 synaptic growth at neuromuscular junction
GO:0051402 neuron apoptotic process
GO:0051563 smooth endoplasmic reticulum calcium ion homeostasis
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005641 nuclear envelope lumen
GO:0005737 cytoplasm
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005905 coated pit
GO:0005911 cell-cell junction
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030134 ER to Golgi transport vesicle
GO:0030424 axon
GO:0031093 platelet alpha granule lumen
GO:0031410 cytoplasmic vesicle
GO:0031594 neuromuscular junction
GO:0035253 ciliary rootlet
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0043198 dendritic shaft
GO:0043231 intracellular membrane-bounded organelle
GO:0043235 receptor complex
GO:0045121 membrane raft
GO:0045177 apical part of cell
GO:0045202 synapse
GO:0048471 perinuclear region of cytoplasm
GO:0051233 spindle midzone
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Notch pathway
EGFR1 pathway
REACTOME
RIP-mediated NFkB activation via ZBP1 pathway
MyD88 dependent cascade initiated on endosome pathway
Toll Like Receptor 7/8 (TLR7/8) Cascade pathway
Toll Like Receptor TLR1:TLR2 Cascade pathway
Gastrin-CREB signalling pathway via PKC and MAPK pathway
Class A/1 (Rhodopsin-like receptors) pathway
G alpha (q) signalling events pathway
Toll Like Receptor 9 (TLR9) Cascade pathway
Toll Like Receptor TLR6:TLR2 Cascade pathway
Extracellular matrix organization pathway
ZBP1(DAI) mediated induction of type I IFNs pathway
MyD88 cascade initiated on plasma membrane pathway
Formyl peptide receptors bind formyl peptides and many other ligands pathway
Signaling by GPCR pathway
Innate Immune System pathway
Peptide ligand-binding receptors pathway
Toll Like Receptor 3 (TLR3) Cascade pathway
Platelet degranulation pathway
Platelet activation, signaling and aggregation pathway
Toll Like Receptor 2 (TLR2) Cascade pathway
Toll-Like Receptors Cascades pathway
TRAF6 mediated NF-kB activation pathway
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways pathway
Signal Transduction pathway
GPCR downstream signaling pathway
Amyloids pathway
G alpha (i) signalling events pathway
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway
DEx/H-box helicases activate type I IFN and inflammatory cytokines production pathway
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation pathway
Immune System pathway
MyD88-independent cascade pathway
MyD88:Mal cascade initiated on plasma membrane pathway
ECM proteoglycans pathway
Inflammasomes pathway
Response to elevated platelet cytosolic Ca2+ pathway
The NLRP3 inflammasome pathway
Toll Like Receptor 4 (TLR4) Cascade pathway
Activated TLR4 signalling pathway
GPCR ligand binding pathway
Advanced glycosylation endproduct receptor signaling pathway
TRIF-mediated TLR3/TLR4 signaling pathway
Cytosolic sensors of pathogen-associated DNA pathway
Toll Like Receptor 5 (TLR5) Cascade pathway
TAK1 activates NFkB by phosphorylation and activation of IKKs complex pathway
Disease pathway
Toll Like Receptor 10 (TLR10) Cascade pathway
Hemostasis pathway
KEGG
Alzheimer's disease pathway
INOH
PID BIOCARTA
Generation of amyloid b-peptide by ps1 [Biocarta view]
Platelet amyloid precursor protein pathway [Biocarta view]
PID NCI
Caspase Cascade in Apoptosis
Glypican 1 network
p75(NTR)-mediated signaling
Cross-References
SwissProt P05067
TrEMBL B7Z313 E9PEV0 E9PG40 H7C104 L7XCZ9 L7XE61
UniProt Splice Variant
Entrez Gene 351
UniGene Hs.434980
RefSeq NM_000484 NM_001136016 NM_001136129 NM_001136130 NM_001136131 NM_001204301 NM_001204302 NM_001204303 NM_201413 NM_201414
HUGO HGNC:620
OMIM 104760
CCDS CCDS13576 CCDS13577 CCDS33523 CCDS46638 CCDS46639 CCDS56211 CCDS56212 CCDS56213
HPRD
IMGT
EMBL AB066441 AF282245 AK295373 AK295621 AK312326 AP001439 AP001440 AP001441 AP001442 AP001443 AY919674 BC004369 BC065529 CH471079 D87675 KC148522 KC148523 KC156113 M15532 M15533 M16765 M18734 M24546 M24547 M28373 M29269 M29270 M33112 M34862 M34863 M34864 M34865 M34866 M34867 M34868 M34869 M34870 M34871 M34872 M34873 M34874 M34875 M34876 M34877 M34878 M34879 M35675 M37895 M37896 S45136 S60317 S60721 S61380 S61383 X06981 X06982 X06989 X13466 X13467 X13468 X13469 X13470 X13471 X13472 X13473 X13474 X13475 X13476 X13477 X13478 X13479 X13487 X13488 Y00264
GenPept AAA35540 AAA51564 AAA51722 AAA51726 AAA51727 AAA51768 AAA58727 AAA60163 AAB23646 AAB26263 AAB26264 AAB26265 AAB59501 AAB59502 AAC13654 AAC60601 AAH04369 AAH65529 AAQ14327 AAW82435 AGD80371 AGD80372 AGD80373 BAA22264 BAB71958 BAG35248 BAG58500 BAH12049 CAA30041 CAA30042 CAA30050 CAA31830 CAA68374 EAX09958 EAX09959 EAX09960 EAX09961 EAX09963 EAX09965
RNA Seq Atlas 351