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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
Chr12:83688203-83735199 bp, + strand
From Ensembl annotation of GRCm38

  46997 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: PSEN1
Protein SuperFamily: presenilin
Gene Tree: Psen1

Human
homologs
PSEN1, presenilin 1
Orthology source: HomoloGene, HGNC

IDs:
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.p2

Disease Associations: (5) Diseases Associated with Human PSEN1

Mutations,
alleles, and
phenotypes
All mutations/alleles(45) : Gene trapped(13) Targeted(22) Transgenic(10)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Psen1 (2)    Mutations Annotated to Human Diseases (20)    Phenotype Images(2)
Interactions
Psen1 interacts with 161 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (33 records)
Data Summary: Results (184)    Tissues (95)    Images (41)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 5
RNA in situ 126
Western blot 6
RT-PCR 47
cDNA source data(137)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase psen1 ; ZFIN psen1    NEW 
Molecular
reagents
All nucleic(143) Genomic(1) cDNA(138) Primer pair(3) Other(1)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000019969 (Evidence)
Entrez Gene 19164 (Evidence)
UniGene 998
DFCI TC1595337, TC1574174
DoTS DT.40170998, DT.94267072, DT.534651, DT.94267073
NIA Mouse Gene Index U014175, U104550
EC 3.4.23.-
Consensus CDS Project CCDS26030.1
International Mouse Phenotyping Consortium Status Psen1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000019969 Ensembl Gene Model | MGI Sequence Detail 46997 C57BL/6J ±  kb
transcript ENSMUST00000041806 Ensembl | MGI Sequence Detail 1657 Not Applicable 
polypeptide ENSMUSP00000048363 Ensembl | MGI Sequence Detail 467 Not Applicable 

For the selected sequences
All sequences(40) 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
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:220391 Maraver A, et al., NOTCH pathway inactivation promotes bladder cancer progression. J Clin Invest. 2015 Feb;125(2):824-30
All references(510)
Disease annotation references (46)
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
06/23/2015
MGI 5.22
The Jackson Laboratory