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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic; lemur, mouse    (Mammalian Orthology)
Comparative Map (Mouse/Human Psen1 ± 2 cM)

Protein SuperFamily: presenilin
Gene Tree: Psen1

Human ortholog

PSEN1 presenilin 1 NCBI Gene ID 5663
Human Synonyms: AD3, FAD, PS1, PS-1, S182
Human Chr14:73603143-73690399 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human PSEN1 (5)

Alleles and phenotypes

All alleles(34) : Targeted(21) Gene trapped(13)
 

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 (5)    Alleles Annotated to Human Diseases(10)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (187 annotations)

Process	activation of MAPKK activity, amyloid precursor protein catabolic process, ...
Component	apical plasma membrane, axon, ...
Function	aspartic-type endopeptidase activity, beta-catenin binding, ...

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 Type	Results
Immunohistochemistry	5
RNA in situ	126
Western blot	6
RT-PCR	47

cDNA source data(136)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(142) Genomic(1) cDNA(137) Primer pair(3) Other(1)
Microarray probesets(5)

Other database links

Ensembl Gene Model	ENSMUSG00000019969 (Evidence)
Entrez Gene	19164 (Evidence)
UniGene	998
DFCI	TC1574174, TC1595337
DoTS	DT.534651, DT.94267072, DT.94267073
NIA Mouse Gene Index	U014175
EC	3.4.23.-
Consensus CDS Project	CCDS26030.1
International Mouse Knockout Project Status	Psen1

Sequences

Length	Strain/Species
genomic	19164	NCBI Gene Model | MGI Sequence Detail	46637	C57BL/6J
transcript	NM_008943	RefSeq | MGI Sequence Detail	3023	C57BL/6
polypeptide	P49769	UniProt | EBI | MGI Sequence Detail	467	Not Applicable

All sequences(34) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(237 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193889 Kaufmann MR, et al., Dysregulation of hypoxia-inducible factor by presenilin/gamma-secretase loss-of-function mutations. J Neurosci. 2013 Jan 30;33(5):1915-26
All references(411)

Other accession IDs

MGD-MRK-35912, MGI:107441