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

    Gene ID: 23821, updated on 3-Dec-2024

    Summary

    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
    NEW
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    Genomic context

    See Bace1 in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (6) 
    • Targeted (17)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables amyloid-beta binding IEA
    Inferred from Electronic Annotation
    more info
     
    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 aspartic-type endopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    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 peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein serine/threonine kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in amyloid precursor protein catabolic process IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in amyloid-beta formation IEA
    Inferred from Electronic Annotation
    more info
     
    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 amyloid-beta metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to amyloid-beta IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to copper ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to manganese ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in detection of mechanical stimulus involved in sensory perception of pain IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in prepulse inhibition IEA
    Inferred from Electronic Annotation
    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 proteolysis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic plasticity TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to lead ion IEA
    Inferred from Electronic Annotation
    more info
     
    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 Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    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 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 cytoplasmic vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    located_in endosome ISS
    Inferred from Sequence or Structural Similarity
    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 late endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in lysosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    located_in multivesicular body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in multivesicular body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    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 recycling endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in synaptic vesicle IEA
    Inferred from Electronic Annotation
    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

    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)

    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_001145947.3NP_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:72403
      beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
      pfam00026
      Location:75382
      Asp; Eukaryotic aspartyl protease
    2. NM_001410455.1NP_001397384.1  beta-secretase 1 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC126804
      UniProtKB/TrEMBL
      Q8BQY4, Q8C7R1
    3. NM_001410456.1NP_001397385.1  beta-secretase 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC126804
      UniProtKB/TrEMBL
      Q69ZQ6
      Related
      ENSMUSP00000124960.2, ENSMUST00000162587.2
    4. NM_001410457.1NP_001397386.1  beta-secretase 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC126804
      UniProtKB/TrEMBL
      Q9CUU5
    5. NM_011792.7NP_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:72437
      beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
      pfam00026
      Location:75416
      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)