U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Bace1 beta-site APP cleaving enzyme 1 [ Mus musculus (house mouse) ]

Gene ID: 23821, updated on 21-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
Bace1provided by MGI
Official Full Name
beta-site APP cleaving enzyme 1provided by MGI
Primary source
MGI:MGI:1346542
See related
Ensembl:ENSMUSG00000032086 AllianceGenome:MGI:1346542
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ASP2; Bace
Summary
This gene encodes a member of the peptidase A1 family of aspartic proteases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature protease. This transmembrane protease catalyzes the first step in the formation of amyloid beta peptide from amyloid precursor protein. Amyloid beta peptides are the main constituent of amyloid beta plaques, which accumulate in the brains of human Alzheimer's disease patients. Homozygous knockout mice for this gene exhibit a wide range of nervous system defects, growth retardation, metabolic abnormalities, and increased neonatal lethality. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in cerebellum adult (RPKM 19.1), ovary adult (RPKM 19.0) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
9 A5.2; 9 25.22 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (45749878..45775694)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (45838545..45862484)

Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene centrosomal protein 164 Neighboring gene STARR-positive B cell enhancer mm9_chr9:45636585-45636886 Neighboring gene STARR-positive B cell enhancer mm9_chr9:45637216-45637517 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:45655339-45655522 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene ring finger protein 214 Neighboring gene predicted gene, 24646 Neighboring gene STARR-seq mESC enhancer starr_24009 Neighboring gene proprotein convertase subtilisin/kexin type 7 Neighboring gene transgelin

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. The Alzheimer's disease-linked protease BACE1 modulates neuronal IL-6 signaling through shedding of the receptor gp130. Müller SA, et al. Mol Neurodegener, 2023 Feb 21. PMID 36810097, Free PMC Article
  2. Mechanisms of amyloid-β34 generation indicate a pivotal role for BACE1 in amyloid homeostasis. Ulku I, et al. Sci Rep, 2023 Feb 7. PMID 36750595, Free PMC Article
  3. Postnatal neuronal Bace1 deletion impairs neuroblast and oligodendrocyte maturation. Benoit MR, et al. Hum Mol Genet, 2023 Mar 20. PMID 36370042, Free PMC Article
  4. Targeted BACE-1 inhibition in microglia enhances amyloid clearance and improved cognitive performance. Singh N, et al. Sci Adv, 2022 Jul 22. PMID 35857844, Free PMC Article
  5. Control of β-Site Amyloid Precursor Protein-Cleaving Enzyme-1 Expression by Protein Kinase C-λ/ι and Nuclear Factor κ-B. Sajan MP, et al. Curr Alzheimer Res, 2021. PMID 34951366

See all (324) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BACE1 in PV interneuron tunes hippocampal CA1 local circuits and resets priming of fear memory extinction.
    Title: BACE1 in PV interneuron tunes hippocampal CA1 local circuits and resets priming of fear memory extinction.
  2. Knockdown of BACE1 by a multistage brain-targeting polyion complex improved memory and learning behaviors in APP/PS1 transgenic mouse model.
    Title: Knockdown of BACE1 by a multistage brain-targeting polyion complex improved memory and learning behaviors in APP/PS1 transgenic mouse model.
  3. Deficiency in the neural cell adhesion molecule 2 (NCAM2) reduces axonal levels of beta-site amyloid precursor protein cleaving enzyme 1 (BACE1), affects axonal organization in the hippocampus, and leads to behavioral deficits.
    Title: Deficiency in the neural cell adhesion molecule 2 (NCAM2) reduces axonal levels of beta-site amyloid precursor protein cleaving enzyme 1 (BACE1), affects axonal organization in the hippocampus, and leads to behavioral deficits.
  4. BACE1 SUMOylation deregulates phosphorylation and ubiquitination in Alzheimer's disease pathology.
    Title: BACE1 SUMOylation deregulates phosphorylation and ubiquitination in Alzheimer's disease pathology.
  5. Bace1 Deletion in the Adult Reverses Epileptiform Activity and Sleep-wake Disturbances in AD Mice.
    Title: Bace1 Deletion in the Adult Reverses Epileptiform Activity and Sleep-wake Disturbances in AD Mice.
  6. beta-secretase 1 overexpression by AAV-mediated gene delivery prevents retina degeneration in a mouse model of age-related macular degeneration.
    Title: β-secretase 1 overexpression by AAV-mediated gene delivery prevents retina degeneration in a mouse model of age-related macular degeneration.
  7. BACE cleavage of APP does not drive the diabetic phenotype of PLB4 mice.
    Title: BACE cleavage of APP does not drive the diabetic phenotype of PLB4 mice.
  8. ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation.
    Title: ARL6IP1 mediates small-molecule-induced alleviation of Alzheimer pathology through FXR1-dependent BACE1 translation initiation.
  9. BACE1 regulates expression of Clusterin in astrocytes for enhancing clearance of beta-amyloid peptides.
    Title: BACE1 regulates expression of Clusterin in astrocytes for enhancing clearance of β-amyloid peptides.
  10. Postnatal neuronal Bace1 deletion impairs neuroblast and oligodendrocyte maturation.
    Title: Postnatal neuronal Bace1 deletion impairs neuroblast and oligodendrocyte maturation.
Submit: New GeneRIF Correction See all GeneRIFs (236)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (17)  1 citation
  • Endonuclease-mediated (5) 

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables amyloid-beta binding ISO
Inferred from Sequence Orthology
more info
  
enables aspartic-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables aspartic-type endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables aspartic-type endopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
enables endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables endopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
  
enables hydrolase activity IEA
Inferred from Electronic Annotation
more info
  
enables peptidase activity ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in amyloid-beta formation ISO
Inferred from Sequence Orthology
more info
  
involved_in amyloid-beta metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within amyloid-beta metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in amyloid-beta metabolic process ISO
Inferred from Sequence Orthology
more info
  
involved_in detection of mechanical stimulus involved in sensory perception of pain ISO
Inferred from Sequence Orthology
more info
  
involved_in membrane protein ectodomain proteolysis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in membrane protein ectodomain proteolysis ISO
Inferred from Sequence Orthology
more info
  
involved_in memory TAS
Traceable Author Statement
more info
 PubMed 
involved_in modulation of chemical synaptic transmission IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in modulation of chemical synaptic transmission TAS
Traceable Author Statement
more info
 PubMed 
involved_in positive regulation of neuron apoptotic process ISO
Inferred from Sequence Orthology
more info
  
involved_in prepulse inhibition ISO
Inferred from Sequence Orthology
more info
  
involved_in presynaptic modulation of chemical synaptic transmission IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in presynaptic modulation of chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein processing ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in proteolysis ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of synaptic plasticity TAS
Traceable Author Statement
more info
 PubMed 
involved_in signaling receptor ligand precursor processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in axon IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axon ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in dendrite ISO
Inferred from Sequence Orthology
more info
  
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
  
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endosome ISO
Inferred from Sequence Orthology
more info
  
is_active_in hippocampal mossy fiber to CA3 synapse IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in hippocampal mossy fiber to CA3 synapse IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in late endosome ISO
Inferred from Sequence Orthology
more info
  
located_in lysosome ISO
Inferred from Sequence Orthology
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in multivesicular body ISO
Inferred from Sequence Orthology
more info
  
located_in neuronal cell body ISO
Inferred from Sequence Orthology
more info
  
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 
is_active_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
  
is_active_in presynapse IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recycling endosome ISO
Inferred from Sequence Orthology
more info
  
located_in synaptic vesicle ISO
Inferred from Sequence Orthology
more info
  
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network ISO
Inferred from Sequence Orthology
more info
  

General protein information

Go to the top of the page Help
Preferred Names
beta-secretase 1
Names
APP beta-secretase
asp 2
aspartyl protease 2
beta-site amyloid precursor protein cleaving enzyme 1
memapsin-2
membrane-associated aspartic protease 2
NP_001139419.1
NP_001397384.1
NP_001397385.1
NP_001397386.1
NP_035922.4

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

mRNA and Protein(s)

  1. NM_001145947.3 → NP_001139419.1  beta-secretase 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001139419.1

    Status: REVIEWED

    Source sequence(s)
    AC126804
    Consensus CDS
    CCDS52784.1
    UniProtKB/TrEMBL
    Q8BQY4, Q8C4F4, Q8C7R1
    Related
    ENSMUSP00000077249.5, ENSMUST00000078111.11
    Conserved Domains (2) summary
    cd05473
    Location:72 → 403
    beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
    pfam00026
    Location:75 → 382
    Asp; Eukaryotic aspartyl protease

  2. NM_001410455.1 → NP_001397384.1  beta-secretase 1 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AC126804

  3. NM_001410456.1 → NP_001397385.1  beta-secretase 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC126804
    Related
    ENSMUSP00000124960.2, ENSMUST00000162587.2

  4. NM_001410457.1 → NP_001397386.1  beta-secretase 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC126804
    UniProtKB/TrEMBL
    Q9CUU5

  5. NM_011792.7 → NP_035922.4  beta-secretase 1 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_035922.4

    Status: REVIEWED

    Source sequence(s)
    AC126804
    Consensus CDS
    CCDS23135.1
    UniProtKB/Swiss-Prot
    P56818, Q544D0
    UniProtKB/TrEMBL
    Q8BQY4, Q8C7R1
    Related
    ENSMUSP00000034591.5, ENSMUST00000034591.11
    Conserved Domains (2) summary
    cd05473
    Location:72 → 437
    beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
    pfam00026
    Location:75 → 416
    Asp; Eukaryotic aspartyl protease

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000075.7 Reference GRCm39 C57BL/6J

    Range
    45749878..45775694
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56818.2 GenPept UniProtKB/Swiss-Prot:P56818

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous