Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 23821, updated on 14-May-2019

    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
    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; C76936
    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

    Genomic context

    See Bace1 in Genome Data Viewer
    Location:
    9; 9 A5.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 9 NC_000075.6 (45838545..45862484)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 9 NC_000075.5 (45646612..45670567)

    Chromosome 9 - NC_000075.6Genomic Context describing neighboring genes Neighboring gene centrosomal protein 164 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene ring finger protein 214 Neighboring gene proprotein convertase subtilisin/kexin type 7 Neighboring gene transgelin Neighboring gene microRNA 7087 Neighboring gene SID1 transmembrane family, member 2

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    • Alzheimer's disease, organism-specific biosystem (from KEGG)
      Alzheimer's disease, organism-specific biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimer's disease, conserved biosystem (from KEGG)
      Alzheimer's disease, conserved biosystemAlzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-b...
    • Alzheimers Disease, organism-specific biosystem (from WikiPathways)
      Alzheimers Disease, organism-specific biosystemThis pathway displays current genes, proteolytic events and other processes associated with the progression of Alzheimer's disease. This pathway was adapted from KEGG on 10/7/2011. Note: mitochondria...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    amyloid-beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    amyloid-beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    aspartic-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    aspartic-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aspartic-type endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endopeptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    peptidase activity ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    amyloid-beta metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    amyloid-beta metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    amyloid-beta metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    detection of mechanical stimulus involved in sensory perception of pain ISO
    Inferred from Sequence Orthology
    more info
     
    membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane protein ectodomain proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    memory TAS
    Traceable Author Statement
    more info
    PubMed 
    modulation of chemical synaptic transmission IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    modulation of chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of neuron apoptotic process ISO
    Inferred from Sequence Orthology
    more info
     
    prepulse inhibition ISO
    Inferred from Sequence Orthology
    more info
     
    protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of synaptic plasticity TAS
    Traceable Author Statement
    more info
    PubMed 
    regulation of synaptic vesicle exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
     
    axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ISO
    Inferred from Sequence Orthology
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendrite ISO
    Inferred from Sequence Orthology
    more info
     
    early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome ISO
    Inferred from Sequence Orthology
    more info
     
    hippocampal mossy fiber to CA3 synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hippocampal mossy fiber to CA3 synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    late endosome ISO
    Inferred from Sequence Orthology
    more info
     
    lysosome ISO
    Inferred from Sequence Orthology
    more info
     
    membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    multivesicular body ISO
    Inferred from Sequence Orthology
    more info
     
    neuronal cell body ISO
    Inferred from Sequence Orthology
    more info
     
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    presynapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    recycling endosome ISO
    Inferred from Sequence Orthology
    more info
     
    synaptic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    trans-Golgi network IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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_035922.4
    XP_011240814.1
    XP_011240815.1

    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.

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001139419.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region compared to variant 1. This results in a shorter protein (isoform 2) compared to isoform 1. It is not known whether this isoform (2) is proteolytically processed in the same manner as isoform 1.
      Source sequence(s)
      AC126804, AK033112, AK082317, BC048189
      Consensus CDS
      CCDS52784.1
      UniProtKB/Swiss-Prot
      P56818
      UniProtKB/TrEMBL
      Q8C4F4
      Related
      ENSMUSP00000077249.4, ENSMUST00000078111.10
      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_011792.6NP_035922.4  beta-secretase 1 isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_035922.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC126804, AK033112, AK082317, BC048189
      Consensus CDS
      CCDS23135.1
      UniProtKB/Swiss-Prot
      P56818
      UniProtKB/TrEMBL
      Q8C4F4
      Related
      ENSMUSP00000034591.4, ENSMUST00000034591.10
      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: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000075.6 Reference GRCm38.p4 C57BL/6J

      Range
      45838545..45862484
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011242513.2XP_011240815.1  beta-secretase 1 isoform X2

      See identical proteins and their annotated locations for XP_011240815.1

      UniProtKB/TrEMBL
      Q9CUU5
      Conserved Domains (1) summary
      cl11403
      Location:1203
      pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases
    2. XM_011242512.2XP_011240814.1  beta-secretase 1 isoform X1

      Related
      ENSMUSP00000124960.1, ENSMUST00000162587.1
      Conserved Domains (2) summary
      cd05473
      Location:22372
      beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease
      pfam00026
      Location:21351
      Asp; Eukaryotic aspartyl protease
    Support Center