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Bace1 Gene Detail
Summary
  • Symbol
    Bace1
  • Name
    beta-site APP cleaving enzyme 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346542
    NCBI Gene: 23821
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:45749878-45775694 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 25.22 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    674 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1346542
 protein coding gene Chr9:45749878-45775697 (+)
129S1/SvImJ MGP_129S1SvImJ_G0034741
 protein coding gene Chr9:44431167-44456941 (+)
A/J MGP_AJ_G0034722
 protein coding gene Chr9:43183156-43208946 (+)
AKR/J MGP_AKRJ_G0034649
 protein coding gene Chr9:44066833-44092589 (+)
BALB/cJ MGP_BALBcJ_G0034713
 protein coding gene Chr9:42906461-42932211 (+)
C3H/HeJ MGP_C3HHeJ_G0034424
 protein coding gene Chr9:44523966-44549743 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035234
 protein coding gene Chr9:45716290-45741913 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032148
 protein coding gene Chr9:42723395-42750237 (+)
CAST/EiJ MGP_CASTEiJ_G0033746
 protein coding gene Chr9:44385791-44411622 (+)
CBA/J MGP_CBAJ_G0034396
 protein coding gene Chr9:47389556-47415309 (+)
DBA/2J MGP_DBA2J_G0034555
 protein coding gene Chr9:43057155-43082936 (+)
FVB/NJ MGP_FVBNJ_G0034496
 protein coding gene Chr9:42325159-42350910 (+)
LP/J MGP_LPJ_G0034636
 protein coding gene Chr9:44757806-44784141 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034540
 protein coding gene Chr9:49163263-49190805 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035255
 protein coding gene Chr9:43976020-44001767 (+)
PWK/PhJ MGP_PWKPhJ_G0033451
 protein coding gene Chr9:42961826-42988197 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033287
 protein coding gene Chr9:44300655-44326455 (+)
WSB/EiJ MGP_WSBEiJ_G0033859
 protein coding gene Chr9:44027655-44053402 (+)



Homology
more
  • Human Ortholog
    BACE1, beta-secretase 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BACE1, beta-secretase 1
  • Synonyms
    ASP2, BACE, HSPC104
  • Links
    NCBI Gene ID: 23621
    neXtProt AC: NX_P56817
    UniProt: P56817

  • Chr Location
    11q23.3; chr11:117285232-117316259 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bace1 mouse models; 1 with human BACE1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    38 phenotypes from 9 alleles in 10 genetic backgrounds
    17 phenotypes from multigenic genotypes
    120 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Some alleles with a targeted mutation exhibit small body size, postnatal lethality, hyperactivity, decreased anxiety, and abnormal APP processing by neurons, while others appear normal.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    92
  • GO References
    22
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    769
  • Tissues
    35
  • cDNA Data
    22
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 23821 NCBI Gene Model | MGI Sequence Detail 25817 C57BL/6J ±  kb
    transcript NM_011792 RefSeq | MGI Sequence Detail 6055 C57BL/6  
    polypeptide P56818 UniProt | EBI | MGI Sequence Detail 501 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 27
      cDNA 25
      Primer pair 1
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2143381
    References
    more
    • Summaries
      All 248
      Developmental Gene Expression 10
      Diseases 1
      Gene Ontology 22
      Phenotypes 120
    • Earliest
      J:43334 Vassar R, et al., Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE [see comments]. Science. 1999 Oct 22;286(5440):735-41
    • Latest
      J:345924 Hong J, et al., PMP2 regulates myelin thickening and ATP production during remyelination. Glia. 2024 Feb 5;
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory