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

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; AllianceGenome:HGNC:620
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; alpha-sAPP
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: mouse all
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Genomic context

Location:: 21q21.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (25880550..26171128, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (24238622..24529258, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (27252861..27543446, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nuclear SphK2/S1P signaling is a key regulator of ApoE production and Abeta uptake in astrocytes.
Title: Nuclear SphK2/S1P signaling is a key regulator of ApoE production and Aβ uptake in astrocytes.
Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer's Disease.
Title: Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer's Disease.
Physical activity and amyloid beta in middle-aged and older adults: A systematic review and meta-analysis.
Title: Physical activity and amyloid beta in middle-aged and older adults: A systematic review and meta-analysis.
Edge Substitution Effects of Histidine Tautomerization Behaviors on the Structural Properties and Aggregation Properties of Abeta(1-42) Mature Fibril.
Title: Edge Substitution Effects of Histidine Tautomerization Behaviors on the Structural Properties and Aggregation Properties of Aβ(1-42) Mature Fibril.
Amyloid-beta deposits in human astrocytes contain truncated and highly resistant proteoforms.
Title: Amyloid-β deposits in human astrocytes contain truncated and highly resistant proteoforms.
Single-cell transcriptomic analysis in clear cell renal cell carcinoma: Deciphering the role of APP within the tumour microenvironment.
Title: Single-cell transcriptomic analysis in clear cell renal cell carcinoma: Deciphering the role of APP within the tumour microenvironment.
Amyloid beta interferes with wound healing of brain microvascular endothelial cells by disorganizing the actin cytoskeleton.
Title: Amyloid β interferes with wound healing of brain microvascular endothelial cells by disorganizing the actin cytoskeleton.
Exploring the Association between Amyloid-beta and Memory Markers for Alzheimer's Disease in Cognitively Unimpaired Older Adults.
Title: Exploring the Association between Amyloid-β and Memory Markers for Alzheimer's Disease in Cognitively Unimpaired Older Adults.
Alzheimer's Amyloid-beta Accelerates Cell Senescence and Suppresses SIRT1 in Human Neural Stem Cells.
Title: Alzheimer's Amyloid-β Accelerates Cell Senescence and Suppresses SIRT1 in Human Neural Stem Cells.
Potential links between platelets and amyloid-beta in the pathogenesis of Alzheimer's disease: Evidence from in vitro, in vivo, and clinical studies.
Title: Potential links between platelets and amyloid-β in the pathogenesis of Alzheimer's disease: Evidence from in vitro, in vivo, and clinical studies.

Submit: New GeneRIF Correction See all GeneRIFs (2568)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Alzheimer disease MedGen: C0002395 GeneReviews: Alzheimer Disease Overview	Compare labs
Alzheimer disease type 1 MedGen: C1863052 OMIM: 104300 GeneReviews: Alzheimer Disease Overview	Compare labs
Cerebral amyloid angiopathy, APP-related MedGen: C2751536 OMIM: 605714 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D21S1732E (e-PCR)
- UniSTS:150785

SHGC-52131 (e-PCR)
- UniSTS:52738

SHGC-170150 (e-PCR)
- UniSTS:183558

SHGC-170152 (e-PCR)
- UniSTS:183559

PMC102624P1 (e-PCR)
- UniSTS:270089

APP_48 (e-PCR)
- UniSTS:277004

RH122888 (e-PCR)
- UniSTS:135185

D2S2243 (e-PCR), detects polymorphism
- UniSTS:38930

SHGC-79795 (e-PCR)
- UniSTS:96021

GDB:185158 (e-PCR)
- UniSTS:155414

GDB:185159 (e-PCR)
- UniSTS:155415

SHGC-82798 (e-PCR)
- UniSTS:102431

G34787 (e-PCR)
- UniSTS:3626

APP (e-PCR)
- UniSTS:479786

SHGC-51936 (e-PCR)
- UniSTS:25902

GDB:192308 (e-PCR)
- UniSTS:155706

SHGC-51945 (e-PCR)
- UniSTS:24659

D21S1253 (e-PCR), detects polymorphism
- UniSTS:42076

G34719 (e-PCR)
- UniSTS:33374

SHGC-51942 (e-PCR)
- UniSTS:51564

SHGC-85780 (e-PCR)
- UniSTS:103793

SHGC-51939 (e-PCR)
- UniSTS:74868

WIAF-1682 (e-PCR)
- UniSTS:50292

D21S1968 (e-PCR)
- UniSTS:79221

WI-18826 (e-PCR)
- UniSTS:9847

SHGC-51938 (e-PCR)
- UniSTS:55690

APP (e-PCR)
- UniSTS:266418

SHGC-58300 (e-PCR)
- UniSTS:63410

D21S1443 (e-PCR)
- UniSTS:8631

RH67934 (e-PCR)
- UniSTS:49337

D21S1857 (e-PCR)
- UniSTS:5562

SHGC-77728 (e-PCR)
- UniSTS:95931

GDB:585471 (e-PCR)
- UniSTS:157889

SHGC-51944 (e-PCR)
- UniSTS:28609

G60161 (e-PCR)
- UniSTS:137420

G09932 (e-PCR)
- UniSTS:57552

SHGC-51941 (e-PCR)
- UniSTS:76511

GDB:180723 (e-PCR)
- UniSTS:155109

RH77727 (e-PCR)
- UniSTS:67046

GDB:303952 (e-PCR)
- UniSTS:156401

SHGC-52109 (e-PCR)
- UniSTS:74484

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables PTB domain binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables heparin binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables receptor ligand activity	IDA Inferred from Direct Assay more info	PubMed
enables serine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables transition metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G2/M transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in NMDA selective glutamate receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in adult locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in amyloid fibril formation	EXP Inferred from Experiment more info	PubMed
involved_in amyloid fibril formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in astrocyte activation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in astrocyte activation involved in immune response	IGI Inferred from Genetic Interaction more info	PubMed
involved_in axo-dendritic transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon midline choice point recognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to amyloid-beta	IGI Inferred from Genetic Interaction more info	PubMed
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cognition	ISS Inferred from Sequence or Structural Similarity more info
involved_in collateral sprouting in absence of injury	ISS Inferred from Sequence or Structural Similarity more info
involved_in cytosolic mRNA polyadenylation	IEA Inferred from Electronic Annotation more info
involved_in dendrite development	ISS Inferred from Sequence or Structural Similarity more info
involved_in endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in extracellular matrix organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in intracellular copper ion homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in ionotropic glutamate receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in learning	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in learning or memory	IGI Inferred from Genetic Interaction more info	PubMed
involved_in learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in locomotory behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in mating behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in microglia development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in microglial cell activation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in modulation of excitatory postsynaptic potential	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of long-term synaptic potentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in neuron apoptotic process	IMP Inferred from Mutant Phenotype more info
involved_in neuron cellular homeostasis	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron projection maintenance	IGI Inferred from Genetic Interaction more info	PubMed
involved_in neuron remodeling	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ERK1 and ERK2 cascade	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of G2/M transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of JNK cascade	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of T cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of amyloid fibril formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of calcium-mediated signaling	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of chemokine production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of glycolytic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of inflammatory response	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of interleukin-1 beta production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of interleukin-6 production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of long-term synaptic potentiation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of mitotic cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-threonine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of tumor necrosis factor production	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of Wnt signaling pathway	IC Inferred by Curator more info	PubMed
involved_in regulation of epidermal growth factor-activated receptor activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of gene expression	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of long-term neuronal synaptic plasticity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of multicellular organism growth	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of peptidyl-tyrosine phosphorylation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of presynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of presynapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of spontaneous synaptic transmission	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of synapse structure or activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of translation	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to interleukin-1	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to oxidative stress	IEA Inferred from Electronic Annotation more info
involved_in smooth endoplasmic reticulum calcium ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in suckling behavior	IEA Inferred from Electronic Annotation more info
involved_in synapse organization	IGI Inferred from Genetic Interaction more info	PubMed
involved_in synaptic assembly at neuromuscular junction	IEA Inferred from Electronic Annotation more info
involved_in visual learning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in COPII-coated ER to Golgi transport vesicle	IEA Inferred from Electronic Annotation more info
is_active_in Golgi apparatus	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in Golgi-associated vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in axon	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cell surface	IBA Inferred from Biological aspect of Ancestor more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in cell-cell junction	IEA Inferred from Electronic Annotation more info
located_in ciliary rootlet	IEA Inferred from Electronic Annotation more info
located_in clathrin-coated pit	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in dendritic shaft	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in early endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in endosome	IDA Inferred from Direct Assay more info	PubMed
located_in endosome lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in membrane raft	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope lumen	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info
located_in presynaptic active zone	IEA Inferred from Electronic Annotation more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed
located_in recycling endosome	ISS Inferred from Sequence or Structural Similarity more info
located_in smooth endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in spindle midzone	IEA Inferred from Electronic Annotation more info
located_in synapse	IDA Inferred from Direct Assay more info	PubMed
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info
located_in trans-Golgi network membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: amyloid-beta precursor protein

Names: alzheimer disease amyloid A4 protein homolog; 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)

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NEW Try the new Transcript table

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

NG_007376.2 RefSeqGene

Range

5359..295579

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000484.4 → NP_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

B2R5V1, B4DII8, D3DSD1, D3DSD2, D3DSD3, P05067, P09000, P78438, Q13764, Q13778, Q13793, Q16011, Q16014, Q16019, Q16020, Q6GSC0, Q8WZ99, Q9BT38, Q9UC33, Q9UCA9, Q9UCB6, Q9UCC8, Q9UCD1, Q9UQ58

UniProtKB/TrEMBL

A0A140VJC8, A0A218KGR2

Related

ENSP00000284981.4, ENST00000346798.8

Conserved Domains (5) summary

smart00006
Location:24 → 188

A4_EXTRA; amyloid A4

pfam00014
Location:294 → 341

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam03494
Location:677 → 713

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:716 → 766

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12925
Location:366 → 548

APP_E2; E2 domain of amyloid precursor protein
NM_001136016.3 → NP_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/TrEMBL

A0A218KGR2

Related

ENSP00000387483.2, ENST00000440126.7

Conserved Domains (7) summary

smart00006
Location:19 → 183

A4_EXTRA; amyloid A4

pfam00014
Location:289 → 337

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam02177
Location:26 → 126

APP_N; Amyloid A4 N-terminal heparin-binding

pfam03494
Location:651 → 689

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:692 → 742

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12924
Location:128 → 183

APP_Cu_bd; Copper-binding of amyloid precursor, CuBD

pfam12925
Location:342 → 524

APP_E2; E2 domain of amyloid precursor protein
NM_001136129.3 → NP_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/TrEMBL

B4DQM1

Related

ENSP00000346129.3, ENST00000354192.7

Conserved Domains (4) summary

pfam03494
Location:544 → 582

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:585 → 635

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12925
Location:235 → 417

APP_E2; E2 domain of amyloid precursor protein

cl26273
Location:19 → 132

APP_N; Amyloid A4 N-terminal heparin-binding
NM_001136130.3 → NP_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/TrEMBL

B4DGD0, E9PG40

Related

ENSP00000398879.2, ENST00000439274.6

Conserved Domains (6) summary

pfam00014
Location:238 → 286

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam02177
Location:19 → 75

APP_N; Amyloid A4 N-terminal heparin-binding

pfam03494
Location:619 → 657

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:660 → 710

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12924
Location:77 → 132

APP_Cu_bd; Copper-binding of amyloid precursor, CuBD

pfam12925
Location:310 → 492

APP_E2; E2 domain of amyloid precursor protein
NM_001136131.3 → NP_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/TrEMBL

A0A0A0MRG2, B4DJT9

Related

ENSP00000352760.4, ENST00000359726.7

Conserved Domains (4) summary

smart00006
Location:1 → 153

A4_EXTRA; amyloid A4

pfam03494
Location:565 → 603

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:606 → 656

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12925
Location:256 → 438

APP_E2; E2 domain of amyloid precursor protein
NM_001204301.2 → NP_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/TrEMBL

A0A218KGR2

Related

ENSP00000351796.3, ENST00000358918.7

Conserved Domains (7) summary

smart00006
Location:24 → 188

A4_EXTRA; amyloid A4

pfam00014
Location:294 → 342

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam02177
Location:31 → 131

APP_N; Amyloid A4 N-terminal heparin-binding

pfam03494
Location:657 → 695

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:698 → 748

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12924
Location:133 → 188

APP_Cu_bd; Copper-binding of amyloid precursor, CuBD

pfam12925
Location:366 → 548

APP_E2; E2 domain of amyloid precursor protein
NM_001204302.2 → NP_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/TrEMBL

A0A218KGR2

Conserved Domains (7) summary

smart00006
Location:24 → 188

A4_EXTRA; amyloid A4

pfam00014
Location:294 → 342

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam02177
Location:31 → 131

APP_N; Amyloid A4 N-terminal heparin-binding

pfam03494
Location:638 → 676

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:679 → 729

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12924
Location:133 → 188

APP_Cu_bd; Copper-binding of amyloid precursor, CuBD

pfam12925
Location:347 → 529

APP_E2; E2 domain of amyloid precursor protein
NM_001204303.2 → NP_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/TrEMBL

B4DQM1

Conserved Domains (3) summary

smart00006
Location:24 → 188

A4_EXTRA; amyloid A4

pfam12925
Location:291 → 473

APP_E2; E2 domain of amyloid precursor protein

cl41775
Location:600 → 674

JMTM_Notch_APP; juxtamembrane and transmembrane (JMTM) domain found in Notch and APP family proteins
NM_001385253.1 → NP_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

UniProtKB/TrEMBL

B4DQM1

Conserved Domains (3) summary

smart00006
Location:24 → 188

A4_EXTRA; amyloid A4

pfam12925
Location:310 → 492

APP_E2; E2 domain of amyloid precursor protein

cl41775
Location:637 → 711

JMTM_Notch_APP; juxtamembrane and transmembrane (JMTM) domain found in Notch and APP family proteins
NM_201413.3 → NP_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/TrEMBL

A0A218KGR2

Related

ENSP00000350578.3, ENST00000357903.7

Conserved Domains (7) summary

smart00006
Location:24 → 188

A4_EXTRA; amyloid A4

pfam00014
Location:294 → 342

Kunitz_BPTI; Kunitz/Bovine pancreatic trypsin inhibitor domain

pfam02177
Location:31 → 131

APP_N; Amyloid A4 N-terminal heparin-binding

pfam03494
Location:656 → 694

Beta-APP; Beta-amyloid peptide (beta-APP)

pfam10515
Location:697 → 747

APP_amyloid; beta-amyloid precursor protein C-terminus

pfam12924
Location:133 → 188

APP_Cu_bd; Copper-binding of amyloid precursor, CuBD

pfam12925
Location:347 → 529

APP_E2; E2 domain of amyloid precursor protein
NM_201414.3 → NP_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/TrEMBL

B4DQM1

Related

ENSP00000345463.5, ENST00000348990.9

Conserved Domains (3) summary

smart00006
Location:24 → 188

A4_EXTRA; amyloid A4

pfam12925
Location:291 → 473

APP_E2; E2 domain of amyloid precursor protein

cl41775
Location:618 → 692

JMTM_Notch_APP; juxtamembrane and transmembrane (JMTM) domain found in Notch and APP family proteins