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

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: human all
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Genomic context

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_000075.7 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Reducing Nogo-B Improves Hepatic Fibrosis by Inhibiting BACe1-Mediated Autophagy.
Title: Reducing Nogo-B Improves Hepatic Fibrosis by Inhibiting BACe1-Mediated Autophagy.
Nicotinic acetylcholine receptor activation induces BACE1 transcription via the phosphorylation and stabilization of nuclear SP1.
Title: Nicotinic acetylcholine receptor activation induces BACE1 transcription via the phosphorylation and stabilization of nuclear SP1.
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.
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.
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.
BACE1 SUMOylation deregulates phosphorylation and ubiquitination in Alzheimer's disease pathology.
Title: BACE1 SUMOylation deregulates phosphorylation and ubiquitination in Alzheimer's disease pathology.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (237)

Variation

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Alleles

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

Endonuclease-mediated (6)
Targeted (17) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:236114

Bace1 (e-PCR), detects polymorphism
- UniSTS:496548

AI842136 (e-PCR)
- UniSTS:179880

RH126063 (e-PCR)
- UniSTS:162775

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

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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

EC 3.4.23.46

NP_001397384.1

EC 3.4.23.46

NP_001397385.1

EC 3.4.23.46

NP_001397386.1

EC 3.4.23.46

NP_035922.4

EC 3.4.23.46

NCBI Reference Sequences (RefSeq)

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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)

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

Status: REVIEWED

Source sequence(s)

AC126804
NM_001410456.1 → NP_001397385.1 beta-secretase 1 isoform 4

Status: REVIEWED

Source sequence(s)

AC126804

Related

ENSMUSP00000124960.2, ENSMUST00000162587.2
NM_001410457.1 → NP_001397386.1 beta-secretase 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC126804

UniProtKB/TrEMBL

Q9CUU5
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