Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 351, updated on 30-Aug-2015
    Official Symbol
    APPprovided by HGNC
    Official Full Name
    amyloid beta (A4) precursor proteinprovided by HGNC
    Primary source
    HGNC: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. 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]
    Orthologs
    Location:
    21q21.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (25880550..26171128, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (27252861..27543446, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372757 Neighboring gene uncharacterized LOC105372756 Neighboring gene myristoylated alanine-rich protein kinase C substrate pseudogene 1 Neighboring gene uncharacterized LOC105372811 Neighboring gene cysteine/tyrosine-rich 1 antisense RNA 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)

    ClinGen Genome Curation Page
    Triplosensitivity

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

    ClinGen Genome Curation PagePubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120-induced upregulation of APP protein production involves JNK MAPK signaling pathway in human cells PubMed
    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 surface glycoprotein gp160, precursor 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 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 tat HIV-1 Tat recruits APP into lipid rafts to facilitate the processing of APP by beta-secretase, which leads to increased levels of ABeta42 in HIV-1 infected U-87 MG cells PubMed
    tat HIV-1 Tat co-localizes with APP and promotes localization of APP to lipid rafts with flotillin-1 in HIV-1 infected U-87 MG cells PubMed
    tat Immunoprecipitation assay demonstrates that HIV-1 Tat directly interacts with APP and the cysteine-rich domain (residues 21-37) of Tat is required to APP binding in U-87 MG cells PubMed
    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
    retropepsin 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 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 ...
    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • 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...
    • Lysosome Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Lysosome Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • 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 TLR3/TLR4 cascade, organism-specific biosystem (from REACTOME)
      MyD88-independent TLR3/TLR4 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...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • 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
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    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 
    enzyme 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
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription from RNA polymerase II promoter IEA
    Inferred from Electronic Annotation
    more info
     
    post-Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    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 or 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
    ER to Golgi transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 
    cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space 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 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear envelope lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    PubMed 
    smooth endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    spindle midzone IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    terminal bouton IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    amyloid beta A4 protein
    Names
    alzheimer disease amyloid protein
    beta-amyloid peptide
    beta-amyloid peptide(1-40)
    beta-amyloid peptide(1-42)
    cerebral vascular amyloid peptide
    peptidase nexin-II
    preA4
    protease nexin-II

    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 identical proteins and their annotated locations for 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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam12924
      Location:132188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      cd00109
      Location:295342
      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
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:715766
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:365549
      APP_E2; E2 domain of amyloid precursor protein
    2. NM_001136016.3NP_001129488.1  amyloid beta A4 protein isoform d

      See identical proteins and their annotated locations for 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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:19183
      A4_EXTRA; amyloid A4
      pfam12924
      Location:127183
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      cd00109
      Location:290337
      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
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:691742
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:341525
      APP_E2; E2 domain of amyloid precursor protein
    3. NM_001136129.2NP_001129601.1  amyloid beta A4 protein isoform e precursor

      See identical proteins and their annotated locations for 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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam12924
      Location:76132
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam02177
      Location:1975
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:584635
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:234418
      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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam12924
      Location:76132
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      cd00109
      Location:239286
      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
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:659710
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:309493
      APP_E2; E2 domain of amyloid precursor protein
    5. NM_001136131.2NP_001129603.1  amyloid beta A4 protein isoform g

      See identical proteins and their annotated locations for 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
      A0A0A0MRG2
      UniProtKB/TrEMBL
      B4DJT9
      UniProtKB/Swiss-Prot
      P05067
      Related
      ENSP00000352760, ENST00000359726
      Conserved Domains (6) summary
      pfam03494
      Location:562603
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:1153
      A4_EXTRA; amyloid A4
      pfam12924
      Location:97153
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam02177
      Location:196
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:605656
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:255439
      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
      Conserved Domains (7) summary
      pfam03494
      Location:654695
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam12924
      Location:132188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      cd00109
      Location:295342
      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
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:697748
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:365549
      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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam12924
      Location:132188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      cd00109
      Location:295342
      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
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:678729
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:346530
      APP_E2; E2 domain of amyloid precursor protein
    8. NM_001204303.1NP_001191232.1  amyloid beta A4 protein isoform j precursor

      See identical proteins and their annotated locations for 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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam12924
      Location:132188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam02177
      Location:30131
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:622673
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:290474
      APP_E2; E2 domain of amyloid precursor protein
    9. NM_201413.2NP_958816.1  amyloid beta A4 protein isoform b precursor

      See identical proteins and their annotated locations for 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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam12924
      Location:132188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      cd00109
      Location:295342
      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
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:696747
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:346530
      APP_E2; E2 domain of amyloid precursor protein
    10. NM_201414.2NP_958817.1  amyloid beta A4 protein isoform c precursor

      See identical proteins and their annotated locations for 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
      Beta-APP; Beta-amyloid peptide (beta-APP)
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam12924
      Location:132188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam02177
      Location:30131
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam10515
      Location:640691
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:290474
      APP_E2; E2 domain of amyloid precursor protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

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

    Alternate CHM1_1.1

    Genomic

    1. NC_018932.2 Alternate CHM1_1.1

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