gene 2,237 words KG: PSEN1 2026-03-29
kind:genesection:genesstate:publishedtopic:alzheimerstopic:ftd
Contents

PSEN1 — Presenilin 1

🧬 Gene Info
Gene SymbolPSEN1
Full NamePresenilin 1
Chromosome14q24.2
Protein TypeAspartyl protease (catalytic subunit)
Functionβ-Secretase Cleavage: APP is first cleaved by BACE1 to generate C99 (membrane-bound C-terminal fragment)
Primary ExpressionNeurons (high), astrocytes, many peripheral tissues
Molecular Weight27 kDa
Amino Acids467 aa
PathwaysAmyloid, Autophagy, Blood-Brain Barrier, Cholesterol, Dysbiosis
UniProt IDP49768
NCBI Gene ID5663
Ensembl IDENSG00000118784
OMIM104311
GeneCardsPSEN1
Human Protein AtlasPSEN1
Associated DiseasesAD, ALS, ALZHEIMER, AMI, Aging
Known Drugs/CompoundsRAPAMYCIN, rapamycin
InteractionsDAPK1, HSPG2, IL1B, APP, EIF2AK2, CD33
KG Connections1521 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph

Related Hypotheses (30)

Synthetic Biology BBB Endothelial Cell Reprogramming
Score: 0.57
Circadian-Synchronized LRP1 Pathway Activation
Score: 0.53
Engineered Apolipoprotein E4-Neutralizing Shuttle Peptides
Score: 0.51
Transcriptional Autophagy-Lysosome Coupling
Score: 0.66
Selective APOE4 Degradation via Proteolysis Targeting Chimer
Score: 0.59

Related Analyses (18)

Selective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived
4R-tau strain-specific spreading patterns in PSP vs CBD
neurodegeneration · archived
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
Microglia-astrocyte crosstalk amplification loops in neurode
neurodegeneration · archived
APOE4 structural biology and therapeutic targeting strategie
neurodegeneration · archived

Related Experiments (7)

Adoptive transfer of TCRAβ-Tregs in AD mouse model
validation · proposed · Score: 0.90
Creation and validation of 3xAD-ChAT-Cre mouse model
validation · proposed · Score: 0.90
Behavioral assessment of APP/PSEN1/GD3S triple-mutant mice
validation · proposed · Score: 0.90
Amyloid plaque load analysis in triple-mutant mouse brains
exploratory · proposed · Score: 0.88
Tet2 expression analysis in aged 2×Tg-AD mouse brains
exploratory · proposed · Score: 0.85

See Also (15)

adam17
gene · KG edge: associated_with
ADAM10 — A Disintegrin And Metalloproteinase Domain 10
gene · KG edge: associated_with
ACE Gene
gene · KG edge: associated_with
ABI3 Gene
gene · KG edge: associated_with
ABCA2 Gene - ATP Binding Cassette Subfamily A Member 2
gene · KG edge: transports

Knowledge Graph (12 edges)

PSEN1 co_discussed STING
PSEN1 cleaves APP
PSEN1 interacts_with PSEN2
PSEN1 activates PSEN2
PSEN1 activates RAB9A
PSEN1 activates SOX9
PSEN1 activates TFEB
PSEN1 activates ULK1
PSEN1 activates UVRAG
PSEN1 activates VDAC2