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

Gene ID: 23821, updated on 23-Dec-2018

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
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