Psen1 Gene Summary [Mouse]
Enables aspartic-type endopeptidase activity and cadherin binding activity. Contributes to aspartic endopeptidase activity, intramembrane cleaving. Involved in several processes, including protein catabolic process at postsynapse; regulation of macromolecule 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 modulation of chemical synaptic transmission; 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 active in glutamatergic synapse. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and hemolymphoid system. Used to study Alzheimer's disease and Alzheimer's disease 3. Human ortholog(s) of this gene implicated in Alzheimer's disease (multiple); dilated cardiomyopathy 1U; frontotemporal dementia (multiple); and hidradenitis suppurativa. Orthologous to human PSEN1 (presenilin 1). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Psen1 |
| Official Name | presenilin 1 [Source:MGI Symbol;Acc:MGI:1202717] |
| Ensembl ID | ENSMUSG00000019969 |
| Bio databases IDs | |
| Aliases | presenilin 1 |
| Synonyms | ACNINV3, AD3, Ad3h, CMD1U, FAD, presenilin 1, PS-1, PSNL1, S182 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Psen1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- growth factor receptor binding
- Presenilin
- C-terminal fragment domain
- hydrophilic domain
- peptidase
- cleavage site
- cytoplasmic domain
- extracellular loop
- tail domain
- cadherin binding
- loop domain
- endoproteolytic cleavage site
- beta-catenin binding domain
- catalytic domain
- calcium channel
- beta-catenin binding
- protein binding
- Signal peptide peptidase
- PDZ-domain binding
- aspartic endopeptidase, intramembrane cleaving
- ATPase binding
- endopeptidase
- transmembrane domain
- PALP motif
- aspartic endopeptidase
- cytosolic tail domain
- PDZ binding motif
- hydrophilic loop domain
- amyloid beta domain
Pathways
Biological processes and signaling networks where the Psen1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
- Amyloid Processing
- Docosahexaenoic Acid (DHA) Signaling
- Ephrin A Signaling
- ErbB4 Signaling
- Mitochondrial Dysfunction
- Molecular Mechanisms of Cancer
- Neuregulin Signaling
- Neuroinflammation Signaling Pathway
- Notch Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Th1 and Th2 Activation Pathway
- Th1 Pathway
- Th2 Pathway
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- keratitis
- epithelial cancer
- proteinuria
- Alzheimers disease type 3
- autosomal dominant familial Alzheimer disease of early onset
- sporadic inclusion body myositis
- acute myeloid leukemia
- bleeding
- hereditary hemorrhagic telangiectasia type 1
- hyperkeratosis
role in cell
- expression in
- migration
- number
- survival
- differentiation
- growth
- transcription in
- binding in
- apoptosis
- cell death
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent-insoluble membrane fraction
- raft fractions
- golgi/trans-golgi network-rich vesicle fraction
- Golgi-enriched fraction
- membrane fraction
- mitochondrial fraction
- aggresome
- basal dendrites
- glutaminergic synapse
- perimembrane region
- outer limiting lysosomal membrane
- cell junction
- organelle
- Cytoplasm
- cell surface
- cell periphery
- intracellular space
- somatodendritic region
- perinuclear region
- intracellular membranes
- cellular membrane
- cell cortex
- Nucleus
- vesicles
- centrosome
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- Mitochondria
- cell-cell contacts
- secretory granule membrane
- granules
- ER-to-Golgi intermediate compartment
- endoplasmic reticulum compartments
- endoplasmic reticulum membrane
- caveolar membranes
- ciliary rootlet
- presynaptic membrane
- synaptic membrane
- cis face of the Golgi apparatus
- Golgi membrane
- trans Golgi network
- cis Golgi networks
- mitochondrial outer membrane
- mitochondrial inner membrane
- lysosome membrane
- nucleoplasm
- outer nuclear membrane
- nuclear envelope
- axon hillock
- synaptic vesicles
- neuromuscular junctions
- growth cone
- neurites
- dendrite initial segments
- synaptosomes
- neuritic shafts
- sarcolemma
- early endosomes
- cytoplasmic vesicles
- smooth endoplasmatic reticulum
- rough endoplasmatic reticulum
- membrane rafts
- filopodia
- cell membrane leading edge
- kinetochores
- perikaryon
- axons
- dendrites
- dendritic shafts
- lamellipodia
- apical processes
- endoplasmic reticulum-rich vesicle fraction
- detergent-soluble fraction
- vesicle fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Psen1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- choline transport
- post-embryonic development
- protein transport
- protein glycosylation
- Cajal-Retzius cell differentiation
- T cell activation involved in immune response
- skin morphogenesis
- memory
- cerebral cortex cell migration
- hemopoietic progenitor cell differentiation
- learning or memory
- positive regulation of L-glutamate transport
- smooth endoplasmic reticulum calcium ion homeostasis
- epithelial cell proliferation
- mitochondrial transport
- positive regulation of transcription, DNA-dependent
- neural retina development
- regulation of synaptic plasticity
- heart looping
- sequestering of calcium ion
- positive regulation of tumor necrosis factor production
- regulation of neuron projection development
- cell fate specification
- regulation of synaptic transmission, glutamatergic
- intracellular signal transduction
- neuron apoptotic process
- amyloid precursor protein catabolic process
- dorsal/ventral neural tube patterning
- positive regulation of protein import into nucleus
- Notch receptor processing
- synapse organization
- cerebellum development
- regulation of resting membrane potential
- positive regulation of dendritic spine development
- amyloid precursor protein metabolic process
- response to DNA damage stimulus
- synaptic vesicle targeting
- negative regulation of gene expression
- Notch signaling pathway
- somitogenesis
- positive regulation of gene expression
- regulation of gene expression
- protein processing
- positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- calcium ion homeostasis
- locomotion
- apoptotic signaling pathway
- brain morphogenesis
- astrocyte activation involved in immune response
- positive regulation of glycolysis
- thymus development
- negative regulation of neuron apoptotic process
- negative regulation of transcription from RNA polymerase II promoter
- autophagic vacuole assembly
- response to oxidative stress
- embryonic limb morphogenesis
- astrocyte activation
- negative regulation of axonogenesis
- neuron migration
- blood vessel development
- positive regulation of receptor recycling
- myeloid dendritic cell differentiation
- regulation of canonical Wnt receptor signaling pathway
- calcium ion transmembrane transport
- endoplasmic reticulum calcium ion homeostasis
- T cell receptor signaling pathway
- negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
- beta-amyloid formation
- neuron development
- skeletal system morphogenesis
- regulation of phosphorylation
- neuron homeostasis
- membrane protein ectodomain proteolysis
- negative regulation of apoptotic process
- negative regulation of protein phosphorylation
- positive regulation of apoptotic process
- positive regulation of protein phosphorylation
- negative regulation of apoptotic signaling pathway
- positive regulation of coagulation
Cellular Component
Where in the cell the gene product is active
- presynaptic membrane
- synaptic vesicle
- smooth endoplasmic reticulum
- rough endoplasmic reticulum
- Golgi membrane
- Golgi apparatus
- kinetochore
- neuronal cell body
- neuron projection
- nucleoplasm
- growth cone
- endoplasmic reticulum membrane
- dendrite
- dendritic shaft
- sarcolemma
- gamma-secretase complex
- neuromuscular junction
- aggresome
- azurophil granule membrane
- ciliary rootlet
- nuclear outer membrane
- endoplasmic reticulum
- mitochondrial inner membrane
- plasma membrane
- cell surface
- early endosome membrane
- nucleus
- nuclear membrane
- centrosome
- cell cortex
- membrane
- membrane raft
- mitochondrion
- cell junction
- macromolecular complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- aspartic-type endopeptidase activity
- calcium channel activity
- cadherin binding
- endopeptidase activity
- PDZ domain binding
- growth factor receptor binding
- beta-catenin binding
- aspartic endopeptidase activity, intramembrane cleaving
- ATPase binding