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.

1595Connections

0Hypotheses

4Analyses

50Outgoing

50Incoming

0Experiments

4Debates

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, ADRB2
KG Connections	1595 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 (834)

Target	Relation	Type	Str
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
GLT-1	interacts_with	protein	0.95
Autosomal Dominant Alzheimer's Disease	causes	disease	0.95
EAAT2	interacts_with	protein	0.95
Gamma-Secretase Complex	interacts_with	protein	0.95
Γ-SECRETASE	component_of	enzyme	0.95
Regulated Intramembrane Proteolysis	catalyzes	process	0.95
Alzheimer'S Disease	risk_factor_for	disease	0.95
Familial Alzheimer'S Disease	risk_factor_for	disease	0.95
Alzheimer'S Disease	causes	disease	0.95
intestinal epithelium	expressed_in	cell_type	0.92
tau pathology	causes	process	0.92
C99	substrate_of	protein	0.90
Amyloid-beta	produces	compound	0.90
NECTIN RECEPTORS	involved_in	receptor	0.90
Γ-SECRETASE COMPLEX	component_of	enzyme	0.90
GLT-1	regulates	protein	0.90
Γ-SECRETASE	encodes	enzyme	0.90
Amyloid-Beta Plaque Accumulation	associated_with	process	0.90
Early-Onset Alzheimer's Disease	causes	disease	0.90
AMYLOID-Β	upregulates	protein	0.90
Amyloid-β	associated_with	compound	0.90
EGFR signalling	activates	pathway	0.90
NECTIN RECEPTORS	cleaves	receptor	0.90
γ-secretase activity	abolishes	process	0.90
Calcium Homeostasis	regulates	process	0.90
intestinal homeostasis	maintains	process	0.90
AMYLOID-BETA	associated_with	protein	0.90
Alzheimer's Disease	risk_factor_for	disease	0.90
Mitochondrial Dysfunction	causes	process	0.90
Learning And Memory	involved_in	process	0.90
Synaptic Plasticity	regulates	process	0.90
AMYLOID PLAQUE ACCUMULATION	contributes_to	biological_process	0.88
colorectal cancer	promotes	disease	0.88
AMYLOID PRECURSOR PROTEIN	interacts_with	protein	0.85
NOTCH1	cleaves	protein	0.85
Amyloid-β	upregulates	protein	0.85
Neurotransmitter Release	regulates	process	0.85
Neuronal Survival	involved_in	process	0.85
GLT-1 cell surface expression	modulates	process	0.85
GLT-1 homomultimer formation	modulates	process	0.85
Nectin Receptors	regulates	receptor	0.85
hippocampus	expressed_in	brain_region	0.80
INFLAMMATION	predisposes	process	0.80
APP	cleaves	entity	0.80
Chaperone function	mediates	process	0.80

Incoming (761)

Source	Relation	Type	Str
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	data_in	dataset	1.00
NEURODEGENERATION	associated_with	gene	1.00
AMYLOID	associated_with	gene	1.00
TAU	associated_with	protein	1.00
ALZHEIMER'S DISEASE	associated_with	gene	1.00
ds-83b31ef18d49	data_in	dataset	1.00
APP	associated_with	gene	1.00
APOE	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
APP	interacts_with	gene	0.74
MAPT	associated_with	gene	0.74
ASTROCYTES	associated_with	cell_type	0.74
NEUROINFLAMMATION	associated_with	gene	0.74
PRESENILIN	associated_with	gene	0.70
ALZHEIMER	associated_with	gene	0.70
Alzheimer	interacts_with	entity	0.70
AMPK	associated_with	gene	0.66
TNF	associated_with	gene	0.66
APP	causes	gene	0.66
APP	activates	gene	0.66
PARKINSON'S DISEASE	associated_with	disease	0.66
APOPTOSIS	associated_with	gene	0.66
IL-6	associated_with	gene	0.66
APP	biomarker_for	gene	0.65
ASTROCYTE	associated_with	gene	0.65
APP	treats	gene	0.65
APOE	contributes_to	gene	0.65
WHITE MATTER	interacts_with	brain_region	0.65
MAPT	promotes	gene	0.65
BACE1	promotes	gene	0.65
PSEN2	contributes_to	gene	0.60
CLU	regulates	gene	0.60
APP	implicated_in	gene	0.60
AMBRA1	activates	entity	0.60
TAU	protects_against	gene	0.60
TAU	regulates	gene	0.60
ABI3	implicated_in	gene	0.60
GAIN	regulates	gene	0.60
ATP13A2	regulates	gene	0.60
TMEM106B	regulates	gene	0.60
C9ORF72	regulates	gene	0.60
BCL2L1	activates	entity	0.60
CTSD	activates	entity	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (4)

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 (4)

Multi-agent debates referencing this entity

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 (834)

Incoming (761)

Targeting Hypotheses (0)

Mentioning Analyses (4)

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

Experiments (0)

Related Papers (0)

Debates (4)

Epigenetic reprogramming in aging neurons

Mitochondrial transfer between astrocytes and neurons

Analyze circuit-level changes in neurodegeneration using Allen Institute Neural

Cell-type specific expression patterns of neurodegeneration genes in SEA-AD

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 (834)

Incoming (761)

Targeting Hypotheses (0)

Mentioning Analyses (4)

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

Experiments (0)

Related Papers (0)

Debates (4)

Epigenetic reprogramming in aging neurons

Mitochondrial transfer between astrocytes and neurons

Analyze circuit-level changes in neurodegeneration using Allen Institute Neural

Cell-type specific expression patterns of neurodegeneration genes in SEA-AD