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
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
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
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
- GenAtlas
- PSEN1
- Internet
- Search Google