gene

PSEN1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about PSEN1: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

1604Connections

0Hypotheses

6Analyses

50Outgoing

50Incoming

0Experiments

20Debates

Summary

PSEN1 encodes presenilin-1, the catalytic subunit of gamma-secretase; dominant mutations cause early-onset familial Alzheimer's disease

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🧬 Gene Info

Gene Symbol	PSEN1
Full Name	Presenilin 1
Chromosome	14q24.2
Protein Type	Aspartyl protease (catalytic subunit)
Function	β-Secretase Cleavage: APP is first cleaved by BACE1 to generate C99 (membrane-bound C-terminal fragment)
Molecular Weight	27 kDa
Amino Acids	467 aa
Pathways	Amyloid, Autophagy, Blood-Brain Barrier, Cholesterol, Dysbiosis
UniProt ID	P49768
NCBI Gene ID	5663
GeneCards	PSEN1
Human Protein Atlas	PSEN1
Associated Diseases	AD, Aging, Als, Alzheimer
Known Drugs/Compounds	rapamycin, RAPAMYCIN
Interactions	A2M, ABCA1, ABCA7, ACE, Actin, AD
KG Connections	1603 knowledge graph edges
Databases	GeneCards HPA STRING

🧬 3D Structure Comparison — PSEN1 Experimental (PDB) vs Predicted (AlphaFold) — click to expand

📄 Experimental Structure

5A63 — X-ray / Cryo-EM

🔮 AI Predicted Structure

P49768 — AlphaFold

Left: Experimental structure from RCSB PDB | Right: AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (7)

Knowledge base pages for this entity

Canonical Page

Pathway Diagram

graph TD
    PSEN1["PSEN1"] -->|"Causes"| EOAD["EOAD"]
    PSEN1["PSEN1"] -->|"Expressed In"| ENDOPLASMIC_RETICULUM["ENDOPLASMIC_RETICULUM"]
    PSEN1["PSEN1"] -->|"Regulates"| amyloid__["amyloid-beta"]
    PSEN1["PSEN1"] -->|"Inhibits"| Alzheimer["Alzheimer"]
    PSEN1["PSEN1"] -->|"Interacts With"| Tumor["Tumor"]
    PSEN1["PSEN1"] -->|"Interacts With"| Als["Als"]
    PSEN1["PSEN1"] -->|"Associated With"| Cancer["Cancer"]
    PSEN1["PSEN1"] -->|"Associated With"| Neurodegeneration["Neurodegeneration"]
    NCSTN["NCSTN"] -->|"Interacts With"| PSEN1["PSEN1"]
    FAS["FAS"] -->|"Interacts With"| PSEN1["PSEN1"]
    TNF["TNF"] -->|"Interacts With"| PSEN1["PSEN1"]
    LMNA["LMNA"] -->|"Interacts With"| PSEN1["PSEN1"]
    style PSEN1 fill:#8d4900,color:#e0e0e0
    style EOAD fill:#b71c1c,color:#e0e0e0
    style ENDOPLASMIC_RETICULUM fill:#795548,color:#e0e0e0
    style amyloid__ fill:#0d47a1,color:#e0e0e0
    style Alzheimer fill:#607D8B,color:#e0e0e0
    style Tumor fill:#b71c1c,color:#e0e0e0
    style Als fill:#b71c1c,color:#e0e0e0
    style Cancer fill:#b71c1c,color:#e0e0e0
    style Neurodegeneration fill:#b71c1c,color:#e0e0e0
    style NCSTN fill:#8d4900,color:#e0e0e0
    style FAS fill:#8d4900,color:#e0e0e0
    style TNF fill:#8d4900,color:#e0e0e0
    style LMNA fill:#8d4900,color:#e0e0e0

Outgoing (814)

Target	Relation	Type	Str
PSEN1	encodes	protein	0.00
benchmark_ot_ad_answer_key:PSEN1	data_in	dataset_row	0.00
ad_genetic_risk_loci:PSEN1	data_in	dataset_row	0.00
ds-f50762b67605	provides_data_for	dataset	1.00
ds-83b31ef18d49	provides_data_for	dataset	1.00
Familial Alzheimer's disease	causes	disease	0.98
Alzheimer'S Disease	associated_with	disease	0.95
EAAT2	interacts_with	protein	0.95
Alzheimer'S Disease	causes	disease	0.95
Autosomal Dominant Alzheimer's Disease	causes	disease	0.95
Γ-SECRETASE	component_of	enzyme	0.95
Familial Alzheimer'S Disease	risk_factor_for	disease	0.95
Gamma-Secretase Complex	interacts_with	protein	0.95
Regulated Intramembrane Proteolysis	catalyzes	process	0.95
GLT-1	interacts_with	protein	0.95
tau pathology	causes	process	0.92
intestinal epithelium	expressed_in	cell_type	0.92
C99	substrate_of	protein	0.90
amyloidogenic_APP_processing	regulates	pathway	0.90
Learning And Memory	involved_in	process	0.90
Amyloid-beta	produces	compound	0.90
gamma_secretase_activity	activates	pathway	0.90
Γ-SECRETASE COMPLEX	component_of	enzyme	0.90
intestinal homeostasis	maintains	process	0.90
AMYLOID-Β	upregulates	protein	0.90
γ-secretase activity	abolishes	process	0.90
Synaptic Plasticity	regulates	process	0.90
Mitochondrial Dysfunction	causes	process	0.90
Amyloid-β	associated_with	compound	0.90
Alzheimer's Disease	associated_with	disease	0.90
GLT-1	regulates	protein	0.90
Amyloid-Beta Plaque Accumulation	associated_with	process	0.90
Early-Onset Alzheimer's Disease	causes	disease	0.90
NECTIN RECEPTORS	cleaves	receptor	0.90
Calcium Homeostasis	regulates	process	0.90
EGFR signalling	activates	pathway	0.90
Γ-SECRETASE	encodes	enzyme	0.90
NECTIN RECEPTORS	involved_in	receptor	0.90
AMYLOID-BETA	associated_with	protein	0.90
AMYLOID PLAQUE ACCUMULATION	contributes_to	process	0.88
colorectal cancer	promotes	disease	0.88
Neuronal Survival	involved_in	process	0.85
Neurotransmitter Release	regulates	process	0.85
GLT-1 cell surface expression	modulates	process	0.85
Nectin Receptors	regulates	receptor	0.85
AMYLOID PRECURSOR PROTEIN	interacts_with	protein	0.85
NOTCH1	cleaves	protein	0.85
GLT-1 homomultimer formation	modulates	process	0.85
Amyloid-β	upregulates	protein	0.85
Age-Dependent Neurodegeneration	protects_against	phenotype	0.80

Incoming (790)

Source	Relation	Type	Str
PSEN1	encodes	gene	0.00
benchmark_ot_ad_answer_key:PSEN1	data_in	dataset_row	0.00
ad_genetic_risk_loci:PSEN1	data_in	dataset_row	0.00
APP	associated_with	gene	1.00
TAU	associated_with	protein	1.00
APOE	associated_with	gene	1.00
ds-83b31ef18d49	data_in	dataset	1.00
ALZHEIMER'S DISEASE	associated_with	gene	1.00
ds-f50762b67605	data_in	dataset	1.00
NEURODEGENERATION	associated_with	gene	1.00
AMYLOID	associated_with	gene	1.00
ALZHEIMER DISEASE	associated_with	gene	0.90
MICROGLIA	associated_with	gene	0.82
CRISPR/CAS9	enables_genetic_modification_of	technology	0.80
Metformin	downregulates	drug	0.80
HSV-1	interacts_with	entity	0.80
PSEN2	associated_with	gene	0.80
NEUROINFLAMMATION	associated_with	gene	0.74
MAPT	associated_with	gene	0.74
ASTROCYTES	associated_with	cell_type	0.74
APP	interacts_with	gene	0.74
NOTCH	degrades	gene	0.70
NOTCH	interacts_with	gene	0.70
NOTCH	expresses	gene	0.70
FRONTOTEMPORAL DEMENTIA	associated_with	disease	0.70
FTD	interacts_with	disease	0.70
MAPT	targets	gene	0.70
NEURONS	activates	cell_type	0.70
NEURONS	causes	cell_type	0.70
ACHE	targets	gene	0.70
BACE1	targets	gene	0.70
GRIN2B	associated_with	gene	0.70
IBA1	regulates	gene	0.70
BACE1	expressed_in	gene	0.70
IBA1	activates	gene	0.70
ASTROCYTE	inhibits	cell_type	0.70
AIF1	regulates	gene	0.70
GSK3B	targets	gene	0.70
BDNF	expressed_in	gene	0.70
ATG7	regulates	gene	0.70
AIF1	activates	gene	0.70
APP	targets	gene	0.70
IDE	expresses	gene	0.70
NFKB	inhibits	gene	0.70
OPTN	interacts_with	gene	0.70
ASTROCYTE	expresses	cell_type	0.70
ADAM10	expresses	gene	0.70
JAK	enhances	gene	0.70
ADAM10	inhibits	gene	0.70
JAK	activates	gene	0.70

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (6)

Scientific analyses that reference this entity

Experiments (0)

Experimental studies targeting or related to this entity

Experiment	Type	Disease	Score	Feasibility	Model	Status	Est. Cost
No experiments found

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

Debates (20)

Multi-agent debates referencing this entity

Related Research

Hypotheses and analyses mentioning PSEN1 in their description or question text

No additional research found

PSEN1

Understanding Entity Pages

Summary

Wiki Pages (7)

PSEN1 — Presenilin 1

PSEN1 Presenilin 1 AD Causal Chain

PSEN1 Protein (Presenilin-1)

Presenilin-1 (PSEN1)

PSEN1 Mutations in Alzheimer's Disease

PSEN1-Mutant Neurons

Pathway Diagram

Outgoing (814)

Incoming (790)

Targeting Hypotheses (0)

Mentioning Analyses (6)

How does PSEN2 mechanistically regulate α-synuclein expression and pathology in

Epigenetic reprogramming in aging neurons

Circuit-level neural dynamics in neurodegeneration

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas

Mitochondrial transfer between astrocytes and neurons

Lipid raft composition changes in synaptic neurodegeneration

Experiments (0)

Related Papers (0)

Debates (20)

Extended debate: CYP46A1 Overexpression Gene Therapy

Extended debate: Closed-loop transcranial focused ultrasound with 40Hz gamma ent

Extended debate: Closed-loop tACS targeting EC-II SST interneurons to block tau

Debate: Closed-loop transcranial focused ultrasound targeting entorhinal PV inte

Debate: Chromatin Remodeling-Mediated Nutrient Sensing Restoration

Debate: Closed-loop tACS targeting EC-II SST interneurons to block tau propagati

Debate: Closed-loop transcranial focused ultrasound to restore hippocampal gamma

Debate: Closed-loop tACS targeting EC-II PV interneurons to suppress burst firin

Debate: Closed-loop tACS targeting EC-II somatostatin interneurons to restore de

Debate: Closed-loop transcranial focused ultrasound with real-time gamma feedbac

Related Research

PSEN1

Understanding Entity Pages

Summary

Wiki Pages (7)

PSEN1 — Presenilin 1

PSEN1 Presenilin 1 AD Causal Chain

PSEN1 Protein (Presenilin-1)

Presenilin-1 (PSEN1)

PSEN1 Mutations in Alzheimer's Disease

PSEN1-Mutant Neurons

PSEN1 (Redirect)

Pathway Diagram

Outgoing (814)

Incoming (790)

Targeting Hypotheses (0)

Mentioning Analyses (6)

How does PSEN2 mechanistically regulate α-synuclein expression and pathology in

Epigenetic reprogramming in aging neurons

Circuit-level neural dynamics in neurodegeneration

SEA-AD Gene Expression Profiling — Allen Brain Cell Atlas

Mitochondrial transfer between astrocytes and neurons

Lipid raft composition changes in synaptic neurodegeneration

Experiments (0)

Related Papers (0)

Debates (20)

Extended debate: CYP46A1 Overexpression Gene Therapy

Extended debate: Closed-loop transcranial focused ultrasound with 40Hz gamma ent

Extended debate: Closed-loop tACS targeting EC-II SST interneurons to block tau

Debate: Closed-loop transcranial focused ultrasound targeting entorhinal PV inte

Debate: Chromatin Remodeling-Mediated Nutrient Sensing Restoration

Debate: Closed-loop tACS targeting EC-II SST interneurons to block tau propagati

Debate: Closed-loop transcranial focused ultrasound to restore hippocampal gamma

Debate: Closed-loop tACS targeting EC-II PV interneurons to suppress burst firin

Debate: Closed-loop tACS targeting EC-II somatostatin interneurons to restore de

Debate: Closed-loop transcranial focused ultrasound with real-time gamma feedbac

Related Research