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Psen1 Gene Detail
Summary
  • Symbol
    Psen1
  • Name
    presenilin 1
  • Synonyms
    Ad3h, presenilin-1, PS1, PS-1, S182
  • Feature Type
    protein coding gene
  • IDs
    MGI:1202717
    NCBI Gene: 19164
  • Gene Overview
    MyGene.info: PSEN1
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr12:83688152-83735199 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47048 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 38.84 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    PSEN1, presenilin 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PSEN1, presenilin 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AD3, FAD, PS1, PS-1, S182
  • Links
    NCBI Gene ID: 5663
    neXtProt AC: NX_P49768
    UniProt: P49768

  • Chr Location
    14q24.2; chr14:73136435-73223691 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Psen1 mouse models; 5 with human PSEN1 associations

Human Disease Mouse Models
      
IDs
View 15 models
      
IDs
View 50 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    25 with disease annotations
  • References
    54 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    140 phenotypes from 21 alleles in 23 genetic backgrounds
    224 phenotypes from multigenic genotypes
    5 images
    1186 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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000019969 Ensembl Gene Model | MGI Sequence Detail 47048 C57BL/6J ±  kb
transcript ENSMUST00000041806 Ensembl | MGI Sequence Detail 2690 Not Applicable  
polypeptide ENSMUSP00000048363 Ensembl | MGI Sequence Detail 467 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    297 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 143
    Genomic 1
    cDNA 138
    Primer pair 3
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-35912, MGI:107441
References
more
  • Summaries
    All 1337
    Developmental Gene Expression 37
    Diseases 54
    Gene Ontology 73
    Phenotypes 1186
  • 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:247620 Papazoglou A, et al., Motor Cortex Theta and Gamma Architecture in Young Adult APPswePS1dE9 Alzheimer Mice. PLoS One. 2017;12(1):e0169654

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
12/05/2017
MGI 6.11
The Jackson Laboratory