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

    Gene ID: 351, updated on 11-Oct-2020

    Summary

    Official Symbol
    APPprovided by HGNC
    Official Full Name
    amyloid beta precursor proteinprovided by HGNC
    Primary source
    HGNC:HGNC:620
    See related
    Ensembl:ENSG00000142192 MIM:104760
    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; preA4; 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]
    Expression
    Ubiquitous expression in brain (RPKM 395.2), kidney (RPKM 282.2) and 25 other tissues See more
    Orthologs

    Genomic context

    See APP in Genome Data Viewer
    Location:
    21q21.3
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 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 RNA, U6 small nuclear 123, pseudogene Neighboring gene RNA, U6 small nuclear 926, pseudogene Neighboring gene myristoylated alanine rich protein kinase C substrate pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Alzheimer disease 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

    HIV-1 interactions

    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 increases secreted and intracellular levels of APP (Ab); increases are dependent upon Tat amino acids 31-61 and can be inhibited by caffeine PubMed
    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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 
    RNA polymerase II proximal promoter sequence-specific DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transition metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    adult locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    amyloid fibril formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    astrocyte activation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    astrocyte activation involved in immune response IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    axo-dendritic 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
     
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular copper ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to amyloid-beta IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cellular response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to nerve growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to norepinephrine stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    cognition ISS
    Inferred from Sequence or Structural Similarity
    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
     
    learning IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    learning or memory IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    learning or memory IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    learning or memory TAS
    Traceable Author Statement
    more info
    PubMed 
    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
     
    microglia development IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    microglial cell activation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    modulation of age-related behavioral decline IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    modulation of age-related behavioral decline IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    modulation of age-related behavioral decline TAS
    Traceable Author Statement
    more info
    PubMed 
    modulation of excitatory postsynaptic potential IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of long-term synaptic potentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    NOT negative regulation of low-density lipoprotein receptor activity IGI
    Inferred from Genetic Interaction
    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 projection maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neuron remodeling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of DNA-binding transcription factor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of JNK cascade IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of NF-kappaB transcription factor activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of NIK/NF-kappaB signaling IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of T cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of amyloid fibril formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of amyloid-beta formation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of chemokine biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of glycolytic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of interleukin-1 beta production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of interleukin-6 production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of long-term synaptic potentiation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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 peptidyl-serine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of peptidyl-threonine phosphorylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of protein metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transcription by RNA polymerase II IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of tumor necrosis factor biosynthetic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    post-translational protein modification TAS
    Traceable Author Statement
    more info
     
    protein phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of NMDA receptor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of Wnt signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    regulation of epidermal growth factor-activated receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of gene expression IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of long-term neuronal synaptic plasticity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of multicellular organism growth ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of peptidyl-tyrosine phosphorylation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of presynapse assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of presynapse assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of spontaneous synaptic transmission IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    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 interleukin-1 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to lead ion IEA
    Inferred from Electronic Annotation
    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
     
    synapse organization IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    synaptic growth at neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    tumor necrosis factor production IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    visual learning ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    COPII-coated 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
     
    Golgi lumen TAS
    Traceable Author Statement
    more info
     
    Golgi-associated vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apical part of cell IEA
    Inferred from Electronic Annotation
    more info
     
    astrocyte projection 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
     
    clathrin-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 
    early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome lumen TAS
    Traceable Author Statement
    more info
     
    extracellular exosome HDA PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space HDA PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth cone filopodium IEA
    Inferred from Electronic Annotation
    more info
     
    growth cone lamellipodium IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    main axon IEA
    Inferred from Electronic Annotation
    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 
    perikaryon IEA
    Inferred from Electronic Annotation
    more info
     
    perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    platelet alpha granule lumen TAS
    Traceable Author Statement
    more info
     
    presynaptic active zone IEA
    Inferred from Electronic Annotation
    more info
     
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    rough endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    synaptic vesicle IEA
    Inferred from Electronic Annotation
    more info
     
    trans-Golgi network membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    amyloid-beta precursor protein
    Names
    alzheimer disease amyloid protein
    amyloid beta (A4) precursor protein
    amyloid beta A4 protein
    amyloid precursor protein
    beta-amyloid peptide
    beta-amyloid peptide(1-40)
    beta-amyloid peptide(1-42)
    beta-amyloid precursor protein
    cerebral vascular amyloid peptide
    peptidase nexin-II
    protease nexin-II
    testicular tissue protein Li 2

    NCBI Reference Sequences (RefSeq)

    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_007376.2 RefSeqGene

      Range
      5359..295579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000484.4NP_000475.1  amyloid-beta precursor 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
      UniProtKB/TrEMBL
      A0A140VJC8
      Related
      ENSP00000284981.4, ENST00000346798.8
      Conserved Domains (5) summary
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam00014
      Location:294341
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam03494
      Location:677713
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:716766
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:366548
      APP_E2; E2 domain of amyloid precursor protein
    2. NM_001136016.3NP_001129488.1  amyloid-beta precursor 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
      Related
      ENSP00000387483.2, ENST00000440126.7
      Conserved Domains (7) summary
      smart00006
      Location:19183
      A4_EXTRA; amyloid A4
      pfam00014
      Location:289337
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam02177
      Location:26126
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam03494
      Location:651689
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:692742
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12924
      Location:128183
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam12925
      Location:342524
      APP_E2; E2 domain of amyloid precursor protein
    3. NM_001136129.3NP_001129601.1  amyloid-beta precursor 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
      ENSP00000346129.3, ENST00000354192.7
      Conserved Domains (4) summary
      pfam03494
      Location:544582
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:585635
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:235417
      APP_E2; E2 domain of amyloid precursor protein
      cl26273
      Location:19132
      APP_N; Amyloid A4 N-terminal heparin-binding
    4. NM_001136130.3NP_001129602.1  amyloid-beta precursor 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/Swiss-Prot
      P05067
      UniProtKB/TrEMBL
      B4DGD0, E9PG40
      Related
      ENSP00000398879.2, ENST00000439274.6
      Conserved Domains (6) summary
      pfam00014
      Location:238286
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam02177
      Location:1975
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam03494
      Location:619657
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:660710
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12924
      Location:77132
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam12925
      Location:310492
      APP_E2; E2 domain of amyloid precursor protein
    5. NM_001136131.3NP_001129603.1  amyloid-beta precursor 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/Swiss-Prot
      P05067
      UniProtKB/TrEMBL
      A0A0A0MRG2, B4DJT9
      Related
      ENSP00000352760.4, ENST00000359726.7
      Conserved Domains (4) summary
      smart00006
      Location:1153
      A4_EXTRA; amyloid A4
      pfam03494
      Location:565603
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:606656
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:256438
      APP_E2; E2 domain of amyloid precursor protein
    6. NM_001204301.2NP_001191230.1  amyloid-beta precursor 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/Swiss-Prot
      P05067
      UniProtKB/TrEMBL
      B4DGD0
      Related
      ENSP00000351796.3, ENST00000358918.7
      Conserved Domains (7) summary
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam00014
      Location:294342
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam02177
      Location:31131
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam03494
      Location:657695
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:698748
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12924
      Location:133188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam12925
      Location:366548
      APP_E2; E2 domain of amyloid precursor protein
    7. NM_001204302.2NP_001191231.1  amyloid-beta precursor 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
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam00014
      Location:294342
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam02177
      Location:31131
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam03494
      Location:638676
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:679729
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12924
      Location:133188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam12925
      Location:347529
      APP_E2; E2 domain of amyloid precursor protein
    8. NM_001204303.2NP_001191232.1  amyloid-beta precursor 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 (4) summary
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam03494
      Location:584620
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:623673
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:291473
      APP_E2; E2 domain of amyloid precursor protein
    9. NM_001385253.1NP_001372182.1  amyloid-beta precursor protein isoform k precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (k) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AP001439, AP001440, AP001441, AP001442, AP001443, KC877827
    10. NM_201413.3NP_958816.1  amyloid-beta precursor 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
      ENSP00000350578.3, ENST00000357903.7
      Conserved Domains (7) summary
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam00014
      Location:294342
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam02177
      Location:31131
      APP_N; Amyloid A4 N-terminal heparin-binding
      pfam03494
      Location:656694
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:697747
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12924
      Location:133188
      APP_Cu_bd; Copper-binding of amyloid precursor, CuBD
      pfam12925
      Location:347529
      APP_E2; E2 domain of amyloid precursor protein
    11. NM_201414.3NP_958817.1  amyloid-beta precursor 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
      ENSP00000345463.5, ENST00000348990.9
      Conserved Domains (4) summary
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam03494
      Location:602638
      Beta-APP; Beta-amyloid peptide (beta-APP)
      pfam10515
      Location:641691
      APP_amyloid; beta-amyloid precursor protein C-terminus
      pfam12925
      Location:291473
      APP_E2; E2 domain of amyloid precursor protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_024452075.1XP_024307843.1  amyloid-beta precursor protein isoform X1

      Related
      ENSP00000396923.1, ENST00000448850.5
      Conserved Domains (3) summary
      smart00006
      Location:24188
      A4_EXTRA; amyloid A4
      pfam00014
      Location:294341
      Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain
      pfam12925
      Location:347529
      APP_E2; E2 domain of amyloid precursor protein
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