About   Help   FAQ
Psen1 Gene Detail
Summary
  • Symbol
    Psen1
  • Name
    presenilin 1
  • Synonyms
    Ad3h, presenilin-1, PS-1, PS1, S182
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202717
    NCBI Gene: 19164
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:83734926-83781869 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 38.84 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1461 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1202717
 protein coding gene Chr12:83734926-83781973 (+)
129S1/SvImJ MGP_129S1SvImJ_G0019916
 protein coding gene Chr12:84336584-84387468 (+)
A/J MGP_AJ_G0019873
 protein coding gene Chr12:81143547-81191297 (+)
AKR/J MGP_AKRJ_G0019849
 protein coding gene Chr12:83339981-83390458 (+)
BALB/cJ MGP_BALBcJ_G0019853
 protein coding gene Chr12:81490853-81538734 (+)
C3H/HeJ MGP_C3HHeJ_G0019659
 protein coding gene Chr12:83804198-83852774 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020305
 protein coding gene Chr12:86753616-86801551 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017922
 protein coding gene Chr12:78066178-78112647 (+)
CAST/EiJ MGP_CASTEiJ_G0019208
 protein coding gene Chr12:78734309-78783926 (+)
CBA/J MGP_CBAJ_G0019630
 protein coding gene Chr12:90091202-90141600 (+)
DBA/2J MGP_DBA2J_G0019745
 protein coding gene Chr12:80688592-80735890 (+)
FVB/NJ MGP_FVBNJ_G0019731
 protein coding gene Chr12:79636458-79683320 (+)
LP/J MGP_LPJ_G0019817
 protein coding gene Chr12:84210466-84259338 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0019770
 protein coding gene Chr12:93068682-93119188 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020339
 protein coding gene Chr12:82932278-82980435 (+)
PWK/PhJ MGP_PWKPhJ_G0018972
 protein coding gene Chr12:75160607-75208930 (+)
SPRET/EiJ MGP_SPRETEiJ_G0018767
 protein coding gene Chr12:77396735-77448621 (+)
WSB/EiJ MGP_WSBEiJ_G0019260
 protein coding gene Chr12:83605572-83654066 (+)



Homology
more
  • Human Ortholog
    PSEN1, presenilin 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PSEN1, presenilin 1
  • Synonyms
    ACNINV3, AD3, CMD1U, FAD, PS-1, PS1, PSNL1, S182
  • Links
    NCBI Gene ID: 5663
    neXtProt AC: NX_P49768
    UniProt: P49768

  • Chr Location
    14q24.2; chr14:73136417-73223691 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Psen1 mouse models; 6 with human PSEN1 associations

Human Disease Mouse Models
      
IDs
 View 19 models
IDs
 View 6 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    13 with disease annotations
  • References
    20 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    130 phenotypes from 20 alleles in 22 genetic backgrounds
    133 phenotypes from multigenic genotypes
    2 images
    969 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.
Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    310
  • GO References
    88
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
    1078
  • Tissues
    150
  • cDNA Data
    137
  • Literature Summary
    46
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19164 NCBI Gene Model | MGI Sequence Detail 46944 C57BL/6J ±  kb
    transcript NM_001362271 RefSeq | MGI Sequence Detail 2706 ZRU/MplStud  
    polypeptide P49769 UniProt | EBI | MGI Sequence Detail 467 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 146
      Genomic 1
      cDNA 138
      Primer pair 3
      Other 4

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-35912, MGI:107441
    References
    more
    • Summaries
      All 1197
      Developmental Gene Expression 46
      Diseases 20
      Gene Ontology 88
      Phenotypes 969
    • Earliest
      J:37100 Sherrington R, et al., Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease [see comments]. Nature. 1995 Jun 29;375(6534):754-60
    • Latest
      J:357877 Erkert L, et al., Alzheimer's disease-related presenilins are key to intestinal epithelial cell function and gut immune homoeostasis. Gut. 2024 Sep 9;73(10):1618-1631
    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)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory