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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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