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Gene Ontology Classifications
Symbol
Name
ID
Psen1
presenilin 1
MGI:1202717

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Automated description from the Alliance of Genome Resources (Release 4.1.0)

Enables aspartic-type endopeptidase activity and cadherin binding activity. Contributes to aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including positive regulation of receptor recycling; regulation of cellular protein metabolic process; and skin morphogenesis. Acts upstream of or within with a positive effect on L-glutamate import across plasma membrane; gene expression; and sequestering of calcium ion. Acts upstream of or within several processes, including animal organ development; nervous system development; and regulation of protein kinase activity. Located in several cellular components, including ciliary rootlet; dendritic shaft; and growth cone. Part of gamma-secretase complex. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and respiratory system. Used to study Alzheimer's disease and Alzheimer's disease 3. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); Pick's disease; dilated cardiomyopathy 1U; frontotemporal dementia; and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1).



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Gene Ontology Evidence Code Abbreviations:

Experimental:
EXP
Inferred from experiment
HMP
Inferred from high throughput mutant phenotype
HGI
Inferred from high throughput genetic interaction
HDA
Inferred from high throughput direct assay
HEP
Inferred from high throughput expression pattern
IDA
Inferred from direct assay
IEP
Inferred from expression pattern
IGI
Inferred from genetic interaction
IMP
Inferred from mutant phenotype
IPI
Inferred from physical interaction
Homology:
IAS
Inferred from ancestral sequence
IBA
Inferred from biological aspect of ancestor
IBD
Inferred from biological aspect of descendant
IKR
Inferred from key residues
IMR
Inferred from missing residues
IRD
Inferred from rapid divergence
ISA
Inferred from sequence alignment
ISM
Inferred from sequence model
ISO
Inferred from sequence orthology
ISS
Inferred from sequence or structural similarity
Automated:
IEA
Inferred from electronic annotation
RCA
Reviewed computational analysis
Other:
IC
Inferred by curator
NAS
Non-traceable author statement
ND
No biological data available
TAS
Traceable author statement

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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)
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last database update
11/23/2021
MGI 6.17
The Jackson Laboratory