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Psen1
Gene Detail
 Symbol
Name
ID
Psen1
presenilin 1
MGI:1202717
Synonyms Ad3h, presenilin-1, PS1, PS-1, S182
Feature Type protein coding gene
Genetic Map
Chromosome 12
38.84 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr12:83688563-83735199 bp, + strand
From NCBI annotation of GRCm38

  46637 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:7186  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: presenilin
Gene Tree: Psen1

Human
homologs
Human Homolog PSEN1, presenilin 1
NCBI Gene ID 5663
neXtProt AC  NX_P49768
Human Synonyms  AD3, FAD, PS1, PS-1, S182
Human Chr (Location)  14q24.3; chr14:73136435-73223691 (+)  GRCh38
Disease Associations  (5) Diseases Associated with Human PSEN1
Alleles
and
phenotypes
All alleles(35) : Gene trapped(13) Targeted(22)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Psen1 (3)    Alleles Annotated to Human Diseases(10)    Phenotype Images(2)
Gene Ontology
(GO)
classifications
All GO classifications: (198 annotations)
Process activation of MAPKK activity, amyloid precursor protein catabolic process, ...
Component apical plasma membrane, axon, ...
Function aspartic endopeptidase activity, intramembrane cleaving, aspartic-type endopeptidase activity, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (28 records)
Data Summary: Results (184)    Tissues (95)    Images (41)
Theiler Stages: 19, 21, 22, 23, 25, 28
Assay TypeResults
Immunohistochemistry 5
RNA in situ 126
Western blot 6
RT-PCR 47
cDNA source data(137)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(143) Genomic(1) cDNA(138) Primer pair(3) Other(1)
Microarray probesets(5)
Other database
links
Ensembl Gene ModelENSMUSG00000019969 (Evidence)
Entrez Gene19164 (Evidence)
UniGene998
DFCITC1574174, TC1595337
DoTSDT.40170998, DT.534651, DT.94267072, DT.94267073
NIA Mouse Gene IndexU014175, U104550
EC3.4.23.-
Consensus CDS ProjectCCDS26030.1
International Mouse Knockout Project StatusPsen1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 19164 NCBI Gene Model | MGI Sequence Detail 46637 C57BL/6J ±  kb
transcript NM_008943 RefSeq | MGI Sequence Detail 3023 C57BL/6 
polypeptide P49769 UniProt | EBI | MGI Sequence Detail 467 Not Applicable 

For the selected sequences
All sequences(39) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(283 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001108 Peptidase A22A, presenilin
InterPro IPR002031 Peptidase A22A, presenilin 1
InterPro IPR006639 Peptidase A22, presenilin signal peptide
Protein Ontology PR:000013344 presenilin-1
Graphical View of Protein Domain Structure
References (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:210440 Dong Z, et al., Ibuprofen partially attenuates neurodegenerative symptoms in presenilin conditional double-knockout mice. Neuroscience. 2014 Jun 13;270:58-68
All references(465)
Other
accession IDs
MGD-MRK-35912, MGI:107441

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
07/15/2014
MGI 5.18
The Jackson Laboratory