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
Protein-Protein network diagram for PSEN1

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

Selected references

External links

EPD
ORF Accession
NM_000021
CDS Accession
NP_000012
OMIM
104311
HPRD
00087
Ensembl
PSEN1
UniProt/Swiss-Prot
PSN1_HUMAN
GeneCards
PSEN1
Entrez Gene
5663
UniGene
592324
GenAtlas
PSEN1
Internet
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