Version 5.4
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
IDBP-1102
amyloid beta (A4) precursor protein
IDBP-1104
amyloid beta (A4) precursor protein
IDBP-1106
amyloid beta (A4) precursor protein
IDBP-1108
amyloid beta (A4) precursor protein
IDBP-1110
amyloid beta (A4) precursor protein
IDBP-1112
amyloid beta (A4) precursor protein
IDBP-361147
amyloid beta (A4) precursor protein
IDBP-361148
amyloid beta (A4) precursor protein
IDBP-361152
amyloid beta (A4) precursor protein
IDBP-361154
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
ENSMUSG00000022892
View Gene Order
ENSBTAG00000017753
Not yet available
Pathways
NETPATH
NetPath_3
Notch pathway
NetPath_4
EGFR1 pathway
REACTOME
REACT_118563
RIP-mediated NFkB activation via ZBP1 pathway
REACT_118764
ZBP1(DAI) mediated induction of type I IFNs pathway
REACT_24969
TRAF6 mediated NF-kB activation pathway
REACT_25359
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways pathway
REACT_25195
Advanced glycosylation endproduct receptor signaling pathway
REACT_21281
TAK1 activates NFkB by phosphorylation and activation of IKKs complex pathway
REACT_6809
MyD88-independent cascade pathway
REACT_6783
Toll Like Receptor 3 (TLR3) Cascade pathway
REACT_6788
MyD88:Mal cascade initiated on plasma membrane pathway
REACT_8005
Toll Like Receptor TLR1:TLR2 Cascade pathway
REACT_8006
Toll Like Receptor TLR6:TLR2 Cascade pathway
REACT_25024
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation pathway
REACT_25222
MyD88 dependent cascade initiated on endosome pathway
REACT_9047
Toll Like Receptor 9 (TLR9) Cascade pathway
REACT_27215
MyD88 cascade initiated on plasma membrane pathway
REACT_9027
Toll Like Receptor 10 (TLR10) Cascade pathway
REACT_6894
Toll Like Receptor 4 (TLR4) Cascade pathway
REACT_9061
Toll Like Receptor 5 (TLR5) Cascade pathway
REACT_75808
The NLRP3 inflammasome pathway
REACT_75900
Inflammasomes pathway
REACT_318
Platelet degranulation pathway
REACT_1280
Response to elevated platelet cytosolic Ca2+ pathway
REACT_18283
G alpha (q) signalling events pathway
REACT_120966
Gastrin-CREB signalling pathway via PKC and MAPK pathway
REACT_19231
G alpha (i) signalling events pathway
REACT_21264
Formyl peptide receptors bind formyl peptides and many other ligands pathway
REACT_14819
Peptide ligand-binding receptors pathway
REACT_14828
Class A/1 (Rhodopsin-like receptors) pathway
REACT_75925
Amyloids pathway
REACT_9020
Toll Like Receptor 7/8 (TLR7/8) Cascade pathway
REACT_118779
Extracellular matrix organization pathway
REACT_14797
Signaling by GPCR pathway
REACT_6802
Innate Immune System pathway
REACT_798
Platelet activation, signaling and aggregation pathway
REACT_7980
Toll Like Receptor 2 (TLR2) Cascade pathway
REACT_6966
Toll-Like Receptors Cascades pathway
REACT_111102
Signal Transduction pathway
REACT_19184
GPCR downstream signaling pathway
REACT_75913
Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways pathway
REACT_163773
DEx/H-box helicases activate type I IFN and inflammatory cytokines production pathway
REACT_6900
Immune System pathway
REACT_163906
ECM proteoglycans pathway
REACT_6890
Activated TLR4 signalling pathway
REACT_21340
GPCR ligand binding pathway
REACT_25281
TRIF-mediated TLR3/TLR4 signaling pathway
REACT_118823
Cytosolic sensors of pathogen-associated DNA pathway
REACT_116125
Disease pathway
REACT_604
Hemostasis pathway
KEGG
hsa05010
Alzheimer's disease pathway
INOH
PID NCI
caspase_pathway
Caspase Cascade in Apoptosis
glypican_1pathway
Glypican 1 network
p75ntrpathway
p75(NTR)-mediated signaling
Cross-References
SwissProt
TrEMBL
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 00100
IMGT
EMBL
GenPept
RNA Seq Atlas 351

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca