GenAge entry for PSEN1 (Homo sapiens)

Gene name (HAGRID: 224)

HGNC symbol: PSEN1
Aliases: FAD; S182; PS1; AD3
Common name: presenilin 1

Potential relevance to the human ageing process

Main reason for selection: Entry selected based on indirect or inconclusive evidence linking the gene product to ageing in humans or in one or more model systems
Description: The PSEN1 gene has multiple transcriptional variants and its functions could include the cleavage of APP and notch receptor protein. PSEN1-null mice die shortly after birth [1368]. Inactivating PSEN1 in the postnatal forebrain reduced beta-amyloid generation with subtle cognitive deficits [1374]. Mutations in the human PSEN1 gene cause early-onset Alzheimer's disease [1381], though PSEN1's role in human ageing remains largely unknown.

Cytogenetic information

Cytogenetic band: 14q24.3
Location: 73,136,435 bp to 73,223,691 bp
Orientation: Plus strand

Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology

Process:

GO:0000045; autophagosome assembly
GO:0000122; negative regulation of transcription from RNA polymerase II promoter
GO:0000186; activation of MAPKK activity
GO:0001568; blood vessel development
GO:0001708; cell fate specification
GO:0001756; somitogenesis
GO:0001764; neuron migration
GO:0001921; positive regulation of receptor recycling
GO:0001947; heart looping
GO:0002244; hematopoietic progenitor cell differentiation
GO:0002286; T cell activation involved in immune response

And 56 more GO terms

Cellular component:	GO:0000139; Golgi membrane GO:0000776; kinetochore GO:0005634; nucleus GO:0005640; nuclear outer membrane GO:0005739; mitochondrion GO:0005743; mitochondrial inner membrane GO:0005765; lysosomal membrane GO:0005783; endoplasmic reticulum GO:0005789; endoplasmic reticulum membrane GO:0005790; smooth endoplasmic reticulum GO:0005791; rough endoplasmic reticulum
	And 21 more GO terms

Function:

GO:0004175; endopeptidase activity
GO:0004190; aspartic-type endopeptidase activity
GO:0005262; calcium channel activity
GO:0005515; protein binding
GO:0008013; beta-catenin binding
GO:0030165; PDZ domain binding
GO:0045296; cadherin binding

Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge: BCL2, GSK3B, APP, APOE, HMGB1, MAPT, CTNNB1, PSEN1
STRING interaction network

Retrieve sequences for PSEN1

ORF: ORF
CDS: CDS

Homologs in model organisms

Caenorhabditis elegans: spe-4
Caenorhabditis elegans: sel-12
Caenorhabditis elegans: hop-1
Danio rerio: psen1
Drosophila melanogaster: Psn
Mus musculus: Psen1
Rattus norvegicus: Psen1

In other databases

LongevityMap

This gene is present as PSEN1