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

Gene ID: 351, updated on 21-Apr-2014
Official Symbol
APPprovided by HGNC
Official Full Name
amyloid beta (A4) precursor proteinprovided by HGNC
Primary source
HGNC:620
See related
Ensembl:ENSG00000142192; HPRD:00100; MIM:104760; Vega:OTTHUMG00000078438
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAA; AD1; PN2; ABPP; APPI; CVAP; ABETA; PN-II; CTFgamma
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]
Location :
21q21.3
Sequence :
Chromosome: 21; NC_000021.9 (25880550..26171128, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene junctional adhesion molecule 2 Neighboring gene ferredoxin 1 pseudogene 2 Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 Neighboring gene GA binding protein transcription factor, alpha subunit 60kDa Neighboring gene uncharacterized LOC102724317 Neighboring gene myristoylated alanine-rich protein kinase C substrate pseudogene 1 Neighboring gene tigger transposable element-derived protein 1-like Neighboring gene cysteine/tyrosine-rich 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Alzheimer's disease
MedGen: C0002395 OMIM: 104300 GeneReviews: Alzheimer Disease Overview
Compare labs
Cerebral amyloid angiopathy, APP-related
MedGen: C2751536 OMIM: 605714 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-07-06)

ISCA Genome Curation Page
Triplosensitivity

Some evidence for dosage pathogenicity (Last evaluated (2012-07-06)

ISCA Genome Curation PagePubMed

Protein interactions

Protein Gene Interaction Pubs
Env, gp160, envelope glycoprotein env HIV-1 Env is identified to have a physical interaction with amyloid beta (A4) precursor protein (APP) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
Envelope surface glycoprotein gp120 env Transgenic (tg) mice overexpressing both human amyloid precursor proteins and HIV-1 gp120 at moderate levels show significantly less neuronal loss, synapto-dendritic degeneration, and gliosis than singly tg mice expressing gp120 alone PubMed
Envelope transmembrane glycoprotein gp41 env A putative immunosuppressive domain (amino acids 583-599) of HIV-1 gp41 downregulates the interleukin 1beta- (IL-1beta) induced elevation of the secreted form of APP (sAPP alpha) PubMed
Tat, p14 tat HIV-1 Tat treatment results in a 125% increase in soluble amyloid beta (Abeta) in brain cultures PubMed
tat Binding of HIV-1 Tat to LRP inhibits neuronal binding, uptake and degradation of physiological ligands for LRP, including alpha2-macroglobulin, apolipoprotein E4, amyloid precursor and amyloid beta-protein PubMed
pol gag-pol HIV-1 protease cleaves amyloid protein precursor at amino acid sites 200-201, 229-230, and 535-536 PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Activated TLR4 signalling, organism-specific biosystem (from REACTOME)
    Activated TLR4 signalling, organism-specific biosystemTLR4 is unique among the TLR family in its ability to recruit four adapters to activate two distinct signaling pathways. One pathway is activated by the pair of the adapters Mal or TIRAP (Toll/inter...
  • Advanced glycosylation endproduct receptor signaling, organism-specific biosystem (from REACTOME)
    Advanced glycosylation endproduct receptor signaling, organism-specific biosystemAdvanced Glycosylation End- product-specific Receptor (AGER) also known as Receptor for Advanced Glycation End-products (RAGE) is a multi-ligand membrane receptor belonging to the immunoglobulin supe...
  • Alzheimer's disease, organism-specific biosystem (from KEGG)
    Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimer's disease, conserved biosystem (from KEGG)
    Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
  • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
    Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...
  • Amyloids, organism-specific biosystem (from REACTOME)
    Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Class A/1 (Rhodopsin-like receptors), organism-specific biosystem (from REACTOME)
    Class A/1 (Rhodopsin-like receptors), organism-specific biosystemRhodopsin-like receptors (class A/1) are the largest group of GPCRs and are the best studied group from a functional and structural point of view. They show great diversity at the sequence level and ...
  • Cytosolic sensors of pathogen-associated DNA, organism-specific biosystem (from REACTOME)
    Cytosolic sensors of pathogen-associated DNA, organism-specific biosystemPresence of pathogen-associated DNA in cytosol induces type I IFN production. Several intracellular receptors have been implicated to some degree. These include DNA-dependent activator of interferon ...
  • DEx/H-box helicases activate type I IFN and inflammatory cytokines production, organism-specific biosystem (from REACTOME)
    DEx/H-box helicases activate type I IFN and inflammatory cytokines production, organism-specific biosystemDHX36 and DHX9 are aspartate-glutamate-any amino acid aspartate/histidine (DExD/H) box helicase (DHX) proteins that localize in the cytosol. The DHX RNA helicases family includes a large number of pr...
  • Delta-Notch Signaling Pathway, organism-specific biosystem (from WikiPathways)
    Delta-Notch Signaling Pathway, organism-specific biosystemThere are 4 Notch receptors in humans (Notch 1-4) that bind to a family of 5 ligands (Jagged 1 and 2 and Delta-like 1-3). The Notch receptors are expressed on the cell surface as heterodimeric protei...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Formyl peptide receptors bind formyl peptides and many other ligands, organism-specific biosystem (from REACTOME)
    Formyl peptide receptors bind formyl peptides and many other ligands, organism-specific biosystemThe formyl peptide receptor (FPR) was defined pharmacologically in 1976 as a high affinity binding site on the surface of neutrophils for the peptide N-formyl-methionine-leucine-phenylalanine (fMLF)....
  • G alpha (i) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (i) signalling events, organism-specific biosystemThe classical signalling mechanism for G alpha (i) is inhibition of the cAMP dependent pathway through inhibition of adenylate cyclase. Decreased production of cAMP from ATP results in decreased act...
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • GPCR ligand binding, organism-specific biosystem (from REACTOME)
    GPCR ligand binding, organism-specific biosystemThere are more than 800 G-protein coupled receptor (GPCRs) in the human genome, making it the largest receptor superfamily. GPCRs are also the largest class of drug targets, involved in virtually all...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
    Glypican 1 network, organism-specific biosystem
    Glypican 1 network
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Inflammasomes, organism-specific biosystem (from REACTOME)
    Inflammasomes, organism-specific biosystemIn contrast to NOD1/2 some NLRPs function as large macromolecular complexes called 'Inflammasomes'. These multiprotein platforms control activation of the cysteinyl aspartate protease caspase-1 and t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • MyD88 cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
    MyD88 cascade initiated on plasma membrane, organism-specific biosystemMammalian myeloid differentiation factor 88 (MyD88) is Toll/interleukin (IL)-1 (TIR)-domain containing adapter protein which plays crucial role in TLR signaling. All TLRs, with only one exception of...
  • MyD88 dependent cascade initiated on endosome, organism-specific biosystem (from REACTOME)
    MyD88 dependent cascade initiated on endosome, organism-specific biosystemUpon binding of their ligands, TLR7/8 and TLR9 recruit a cytoplasmic adaptor MyD88 and IRAKs, downstream of which the signaling pathways are divided to induce either inflammatory cytokines or type I ...
  • MyD88-independent cascade, organism-specific biosystem (from REACTOME)
    MyD88-independent cascade, organism-specific biosystemMyD88-independent signaling pathway is shared by TLR3 and TLR4 cascades. TIR-domain-containing adapter-inducing interferon-beta (TRIF or TICAM1) is a key adapter molecule in transducing signals from ...
  • MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystem (from REACTOME)
    MyD88:Mal cascade initiated on plasma membrane, organism-specific biosystemThe first known downstream component of TLR4 and TLR2 signaling is the adaptor MyD88. Another adapter MyD88-adaptor-like (Mal; also known as TIR-domain-containing adaptor protein or TIRAP) has also b...
  • Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystem (from REACTOME)
    Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways, organism-specific biosystemThe innate immune system is the first line of defense against invading microorganisms, a broad specificity response characterized by the recruitment and activation of phagocytes and the release of an...
  • Peptide ligand-binding receptors, organism-specific biosystem (from REACTOME)
    Peptide ligand-binding receptors, organism-specific biosystemThese receptors, a subset of the Class A/1 (Rhodopsin-like) family, all bind peptide ligands which include the chemokines, opioids and somatostatins.
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystem (from REACTOME)
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways, organism-specific biosystemRIG-I-like helicases (RLHs) the retinoic acid inducible gene-I (RIG-I) and melanoma differentiation associated gene 5 (MDA5) are RNA helicases that recognize viral RNA present within the cytoplasm. F...
  • RIP-mediated NFkB activation via ZBP1, organism-specific biosystem (from REACTOME)
    RIP-mediated NFkB activation via ZBP1, organism-specific biosystemOverexpression of human or murine ZBP1 (DAI) in human embryonic kidney 293T cells (HEK293T) activated NF-kB-dependent promoter in a dose-dependent manner. Two RHIM-contaning kinases RIP1 and RIP3 are...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
  • Serotonergic synapse, organism-specific biosystem (from KEGG)
    Serotonergic synapse, organism-specific biosystemSerotonin (5-Hydroxytryptamine, 5-HT) is a monoamine neurotransmitter that plays important roles in physiological functions such as learning and memory, emotion, sleep, pain, motor function and endoc...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • TAK1 activates NFkB by phosphorylation and activation of IKKs complex, organism-specific biosystem (from REACTOME)
    TAK1 activates NFkB by phosphorylation and activation of IKKs complex, organism-specific biosystemNF-kappaB is sequestered in the cytoplasm in a complex with inhibitor of NF-kappaB (IkB). Almost all NF-kappaB activation pathways are mediated by IkB kinase (IKK), which phosphorylates IkB resulting...
  • TRAF6 mediated NF-kB activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated NF-kB activation, organism-specific biosystemThe TRAF6/TAK1 signal activates a canonical IKK complex, resulting in the activation of NF-kB as well as MAPK cascades leading to the activation of AP-1. Although TRAF6/TAK1 has been implicated in To...
  • TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystem (from REACTOME)
    TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation, organism-specific biosystemTRAF6 mediates NFkB activation via canonical phosphorylation of IKK complex by TAK1. TRAF6 and TAK1 also regulate MAPK cascades leading to the activation of AP-1.
  • TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystem (from REACTOME)
    TRIF-mediated TLR3/TLR4 signaling, organism-specific biosystemTRIF(TICAM1) was shown to induce IRF3/7 and NF-?B activation and apoptosis through distinct intracellular signaling pathways [Han KJ et al 2004; Kaiser WJ and Offermann MK et al 2005]. TRIF consists...
  • The NLRP3 inflammasome, organism-specific biosystem (from REACTOME)
    The NLRP3 inflammasome, organism-specific biosystemThe NLRP3 (Cryopyrin) inflammasome is currently the best characterized. It consists of NLRP3, ASC (PYCARD) and procaspase-1; CARD8 (Cardinal) is also suggested to be a component. It is activated by a...
  • Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 10 (TLR10) Cascade, organism-specific biosystemLittle is known about TLR10 ligands. It has been established that the receptor homodimerizes upon binding and signals in an MyD88-dependent manner (Hasan U et al 2005; Nyman T et al 2008). It may als...
  • Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 2 (TLR2) Cascade, organism-specific biosystemTLR2 is involved in recognition of peptidoglycan from gram-positive bacteria, bacterial lipoproteins, mycoplasma lipoprotein and mycobacterial products. It is quite possible that recognition of at le...
  • Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 3 (TLR3) Cascade, organism-specific biosystemToll-like receptor 3 (TLR3) as was shown for mammals is expressed on myeloid dendritic cells, respiratory epithelium, macrophages, and appears to play a central role in mediating the antiviral and in...
  • Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 4 (TLR4) Cascade, organism-specific biosystemToll-like Receptor 4 is a Microbe Associated Molecular Pattern receptor well known for it's sensitivity to Bacterial Lipopolysaccharides (LPS). LPS is assembled within diverse Gram-negative bacteria,...
  • Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 5 (TLR5) Cascade, organism-specific biosystemTLR5 is the receptor for flagellin, the protein that forms bacterial flagella. Unlike most other Pathogen-Associated Molecular Patterns (PAMPs), flagellin does not undergo any posttranslational modif...
  • Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 7/8 (TLR7/8) Cascade, organism-specific biosystemRNA can serve as a danger signal, both in its double-stranded form (that is associated with viral infection), as well as single-stranded RNA (ssRNA). Specifically, guanosine (G)- and uridine (U)-rich...
  • Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor 9 (TLR9) Cascade, organism-specific biosystemCpG DNA is an unusual Pathogen-Associated Molecular Pattern (PAMP). Cytosine methylation exists in mammalian but not bacterial cells, and most (but not all) CpG in the mammalian genome is methylated....
  • Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor TLR1:TLR2 Cascade, organism-specific biosystemTLR1 is expressed by monocytes. TLR1 and TLR2 cotranslationally form heterodimeric complexes on the cell surface and in the cytosol. The TLR2:TLR1 complex recognizes Neisserial PorB and Mycobacterial...
  • Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystem (from REACTOME)
    Toll Like Receptor TLR6:TLR2 Cascade, organism-specific biosystemTLR2 and TLR4 recognize different bacterial cell wall components. While TLR4 is trained onto Gram-negative lipopolysaccharide components, TLR2 - in combination with TLR6 - plays a major role in recog...
  • Toll-Like Receptors Cascades, organism-specific biosystem (from REACTOME)
    Toll-Like Receptors Cascades, organism-specific biosystemIn human, ten members of the Toll-like receptor (TLR) family (TLR1-TLR10) have been identified (TLR11 has been found in mouse, but not in human). All TLRs have a similar Toll/IL-1 receptor (TIR) doma...
  • ZBP1(DAI) mediated induction of type I IFNs, organism-specific biosystem (from REACTOME)
    ZBP1(DAI) mediated induction of type I IFNs, organism-specific biosystemZ-DNA-binding protein-1 (ZBP1), also known as, DNA-dependent activator of IFN-regulatory factors (DAI) was reported to initiate innate immune responses in murine L929 cells upon stimulation by multip...
  • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
    p75(NTR)-mediated signaling, organism-specific biosystem
    p75(NTR)-mediated signaling
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
PTB domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
acetylcholine receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
growth factor receptor binding IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
peptidase activator activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
transition metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
adult locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
axon cargo transport ISS
Inferred from Sequence or Structural Similarity
more info
 
axon midline choice point recognition ISS
Inferred from Sequence or Structural Similarity
more info
 
axonogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
blood coagulation TAS
Traceable Author Statement
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular copper ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
collateral sprouting in absence of injury ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite development ISS
Inferred from Sequence or Structural Similarity
more info
 
endocytosis ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization TAS
Traceable Author Statement
more info
 
forebrain development IEA
Inferred from Electronic Annotation
more info
 
innate immune response TAS
Traceable Author Statement
more info
 
ionotropic glutamate receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA polyadenylation ISS
Inferred from Sequence or Structural Similarity
more info
 
mating behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic G2 phase ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
neuromuscular process controlling balance IEA
Inferred from Electronic Annotation
more info
 
neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway TAS
Traceable Author Statement
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of G2/M transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of mitotic cell cycle ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of epidermal growth factor-activated receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of multicellular organism growth ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
regulation of synapse structure and activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of translation ISS
Inferred from Sequence or Structural Similarity
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
smooth endoplasmic reticulum calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
suckling behavior IEA
Inferred from Electronic Annotation
more info
 
synaptic growth at neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
visual learning ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
apical part of cell IEA
Inferred from Electronic Annotation
more info
 
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
ciliary rootlet IEA
Inferred from Electronic Annotation
more info
 
coated pit IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
cytosol TAS
Traceable Author Statement
more info
 
dendritic shaft IDA
Inferred from Direct Assay
more info
PubMed 
dendritic spine IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
neuromuscular junction IEA
Inferred from Electronic Annotation
more info
 
nuclear envelope lumen IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
receptor complex IDA
Inferred from Direct Assay
more info
 
spindle midzone IEA
Inferred from Electronic Annotation
more info
 
synapse IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
amyloid beta A4 protein
Names
amyloid beta A4 protein
preA4
protease nexin-II
peptidase nexin-II
beta-amyloid peptide
alzheimer disease amyloid protein
cerebral vascular amyloid peptide

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007376.1 RefSeqGene

    Range
    4687..295272
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000484.3NP_000475.1  amyloid beta A4 protein isoform a precursor

    See proteins identical to NP_000475.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a, also known as PreA4 770).
    Source sequence(s)
    AK312326, BC065529, BI559391, BM876312
    Consensus CDS
    CCDS13576.1
    UniProtKB/Swiss-Prot
    P05067
    Related
    ENSP00000284981, OTTHUMP00000096098, ENST00000346798, OTTHUMT00000171340
    Conserved Domains (7) summary
    pfam03494
    Location:672713
    Blast Score: 156
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:24188
    Blast Score: 858
    A4_EXTRA; amyloid A4
    pfam12924
    Location:132188
    Blast Score: 301
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    cd00109
    Location:295342
    Blast Score: 229
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam02177
    Location:30131
    Blast Score: 489
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:715766
    Blast Score: 269
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:365549
    Blast Score: 807
    APP_E2; E2 domain of amyloid precursor protein
  2. NM_001136016.3NP_001129488.1  amyloid beta A4 protein isoform d

    See proteins identical to NP_001129488.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (d) has a shorter and distinct N-terminus and lacks an internal segment compared to isoform a.
    Source sequence(s)
    AK295621, AK311717, BM876312, Y00264
    Consensus CDS
    CCDS56212.1
    UniProtKB/Swiss-Prot
    P05067
    Conserved Domains (7) summary
    pfam03494
    Location:648689
    Blast Score: 155
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:19183
    Blast Score: 860
    A4_EXTRA; amyloid A4
    pfam12924
    Location:127183
    Blast Score: 301
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    cd00109
    Location:290337
    Blast Score: 229
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam02177
    Location:25126
    Blast Score: 489
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:691742
    Blast Score: 270
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:341525
    Blast Score: 812
    APP_E2; E2 domain of amyloid precursor protein
  3. NM_001136129.2NP_001129601.1  amyloid beta A4 protein isoform e precursor

    See proteins identical to NP_001129601.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AF282245, BC065529, BI559391, BM876312
    Consensus CDS
    CCDS46638.1
    UniProtKB/Swiss-Prot
    P05067
    Related
    ENSP00000346129, OTTHUMP00000096096, ENST00000354192, OTTHUMT00000171338
    Conserved Domains (5) summary
    pfam03494
    Location:541582
    Blast Score: 152
    Beta-APP; Beta-amyloid peptide (beta-APP)
    pfam12924
    Location:76132
    Blast Score: 307
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam02177
    Location:1975
    Blast Score: 291
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:584635
    Blast Score: 264
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:234418
    Blast Score: 778
    APP_E2; E2 domain of amyloid precursor protein
  4. NM_001136130.2NP_001129602.1  amyloid beta A4 protein isoform f precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (f) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK294534, BC065523, BC065529, BI559391, BM876312
    Consensus CDS
    CCDS46639.1
    UniProtKB/TrEMBL
    B4DGD0
    UniProtKB/TrEMBL
    E9PG40
    UniProtKB/Swiss-Prot
    P05067
    Conserved Domains (6) summary
    pfam03494
    Location:616657
    Blast Score: 154
    Beta-APP; Beta-amyloid peptide (beta-APP)
    pfam12924
    Location:76132
    Blast Score: 302
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    cd00109
    Location:239286
    Blast Score: 232
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam02177
    Location:1975
    Blast Score: 290
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:659710
    Blast Score: 267
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:309493
    Blast Score: 796
    APP_E2; E2 domain of amyloid precursor protein
  5. NM_001136131.2NP_001129603.1  amyloid beta A4 protein isoform g

    See proteins identical to NP_001129603.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence and lacks two alternate in-frame exons compared to variant 1. The resulting isoform (g) is shorter at the N-terminus and lacks an internal segment compared to isoform a.
    Source sequence(s)
    AK296229, BM876312, Y00264
    Consensus CDS
    CCDS56211.1
    UniProtKB/TrEMBL
    B4DJT9
    UniProtKB/TrEMBL
    E9PEV0
    UniProtKB/Swiss-Prot
    P05067
    Conserved Domains (6) summary
    pfam03494
    Location:562603
    Blast Score: 154
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:1153
    Blast Score: 817
    A4_EXTRA; amyloid A4
    pfam12924
    Location:97153
    Blast Score: 304
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam02177
    Location:196
    Blast Score: 459
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:605656
    Blast Score: 266
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:255439
    Blast Score: 788
    APP_E2; E2 domain of amyloid precursor protein
  6. NM_001204301.1NP_001191230.1  amyloid beta A4 protein isoform h precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (h, also known as L-APP752) has the same N- and C-termini but is shorter compared to isoform a. No full-length transcript is available for this transcript; however, it is supported by PMID:1429732 and other publications.
    Source sequence(s)
    AK294534, AK312326, BI559391, BM876312, Y00264
    Consensus CDS
    CCDS56213.1
    UniProtKB/TrEMBL
    B4DGD0
    UniProtKB/Swiss-Prot
    P05067
    Related
    ENSP00000351796, ENST00000358918
    Conserved Domains (7) summary
    pfam03494
    Location:654695
    Blast Score: 155
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:24188
    Blast Score: 857
    A4_EXTRA; amyloid A4
    pfam12924
    Location:132188
    Blast Score: 300
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    cd00109
    Location:295342
    Blast Score: 229
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam02177
    Location:30131
    Blast Score: 488
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:697748
    Blast Score: 269
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:365549
    Blast Score: 807
    APP_E2; E2 domain of amyloid precursor protein
  7. NM_001204302.1NP_001191231.1  amyloid beta A4 protein isoform i precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (i, also known as L-APP733) has the same N- and C-termini but is shorter compared to isoform a. No full-length transcript is available for this transcript; however, it is supported by PMID:1429732 and other publications.
    Source sequence(s)
    BI559391, BM876312, X06989, Y00264
    UniProtKB/Swiss-Prot
    P05067
    Conserved Domains (7) summary
    pfam03494
    Location:635676
    Blast Score: 154
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:24188
    Blast Score: 857
    A4_EXTRA; amyloid A4
    pfam12924
    Location:132188
    Blast Score: 299
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    cd00109
    Location:295342
    Blast Score: 227
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam02177
    Location:30131
    Blast Score: 487
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:678729
    Blast Score: 269
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:346530
    Blast Score: 810
    APP_E2; E2 domain of amyloid precursor protein
  8. NM_001204303.1NP_001191232.1  amyloid beta A4 protein isoform j precursor

    See proteins identical to NP_001191232.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (j, also known as L-APP677) has the same N- and C-termini but is shorter compared to isoform a. No full-length transcript is available for this transcript; however, it is supported by PMID:1429732 and other publications.
    Source sequence(s)
    BI559391, BM876312, Y00264
    UniProtKB/Swiss-Prot
    P05067
    Conserved Domains (6) summary
    pfam03494
    Location:579620
    Blast Score: 153
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:24188
    Blast Score: 864
    A4_EXTRA; amyloid A4
    pfam12924
    Location:132188
    Blast Score: 304
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam02177
    Location:30131
    Blast Score: 490
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:622673
    Blast Score: 266
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:290474
    Blast Score: 790
    APP_E2; E2 domain of amyloid precursor protein
  9. NM_201413.2NP_958816.1  amyloid beta A4 protein isoform b precursor

    See proteins identical to NP_958816.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b, also known as PreA4 751) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BC065529, BI559391, BM876312
    Consensus CDS
    CCDS33523.1
    UniProtKB/Swiss-Prot
    P05067
    Related
    ENSP00000350578, OTTHUMP00000096095, ENST00000357903, OTTHUMT00000171337
    Conserved Domains (7) summary
    pfam03494
    Location:653694
    Blast Score: 155
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:24188
    Blast Score: 857
    A4_EXTRA; amyloid A4
    pfam12924
    Location:132188
    Blast Score: 300
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    cd00109
    Location:295342
    Blast Score: 228
    KU; BPTI/Kunitz family of serine protease inhibitors; Structure is a disulfide rich alpha+beta fold. BPTI (bovine pancreatic trypsin inhibitor) is an extensively studied model structure.
    pfam02177
    Location:30131
    Blast Score: 488
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:696747
    Blast Score: 269
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:346530
    Blast Score: 809
    APP_E2; E2 domain of amyloid precursor protein
  10. NM_201414.2NP_958817.1  amyloid beta A4 protein isoform c precursor

    See proteins identical to NP_958817.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame segment compared to variant 1. The resulting isoform (c, also known as PreA4 695) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    BI559391, BM876312, Y00264
    Consensus CDS
    CCDS13577.1
    UniProtKB/Swiss-Prot
    P05067
    Related
    ENSP00000345463, OTTHUMP00000096097, ENST00000348990, OTTHUMT00000171339
    Conserved Domains (6) summary
    pfam03494
    Location:597638
    Blast Score: 154
    Beta-APP; Beta-amyloid peptide (beta-APP)
    smart00006
    Location:24188
    Blast Score: 865
    A4_EXTRA; amyloid A4
    pfam12924
    Location:132188
    Blast Score: 305
    APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
    pfam02177
    Location:30131
    Blast Score: 491
    APP_N; Amyloid A4 N-terminal heparin-binding
    pfam10515
    Location:640691
    Blast Score: 266
    APP_amyloid; beta-amyloid precursor protein C-terminus
    pfam12925
    Location:290474
    Blast Score: 791
    APP_E2; E2 domain of amyloid precursor protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38 Primary Assembly

    Range
    25880550..26171128, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000153.1 Alternate HuRef

    Range
    12656350..12947965, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    26813502..27104969, complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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