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.

1522Connections

0Hypotheses

4Analyses

50Outgoing

50Incoming

0Experiments

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)
Subcellular Localization	, affecting the sites and kinetics of proteolytic processing. They disrupt lipid raft organization, essential for effici
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
PSEN2	Presenilin 2, a paralogous protein also causing familial Alzheimer's disease
APP	Amyloid precursor protein, primary γ-secretase substrate
Associated Diseases	AD, ALS, ALZHEIMER, AMI, Aging
Known Drugs/Compounds	RAPAMYCIN, rapamycin
Interactions	DAPK1, HSPG2, IL1B, APP, EIF2AK2, CD33
KG Connections	1522 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 (21)

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 (819)

Target	Relation	Type	Str
ds-f50762b67605	provides_data_for	dataset	1.00
ds-83b31ef18d49	provides_data_for	dataset	1.00
Familial Alzheimer's disease	causes	disease	0.98
Gamma-Secretase Complex	interacts_with	protein	0.95
Familial Alzheimer'S Disease	risk_factor_for	disease	0.95
Γ-SECRETASE	component_of	enzyme	0.95
Autosomal Dominant Alzheimer's Disease	causes	disease	0.95
Regulated Intramembrane Proteolysis	catalyzes	process	0.95
GLT-1	interacts_with	protein	0.95
Alzheimer'S Disease	causes	disease	0.95
EAAT2	interacts_with	protein	0.95
Alzheimer'S Disease	risk_factor_for	disease	0.95
intestinal epithelium	expressed_in	cell_type	0.92
tau pathology	causes	process	0.92
Calcium Homeostasis	regulates	process	0.90
NECTIN RECEPTORS	cleaves	receptor	0.90
NECTIN RECEPTORS	involved_in	receptor	0.90
Amyloid-Beta Plaque Accumulation	associated_with	process	0.90
EGFR signalling	activates	pathway	0.90
Amyloid-β	associated_with	compound	0.90
γ-secretase activity	abolishes	process	0.90
intestinal homeostasis	maintains	process	0.90
Learning And Memory	involved_in	process	0.90
C99	substrate_of	protein	0.90
Γ-SECRETASE	encodes	enzyme	0.90
Early-Onset Alzheimer's Disease	causes	disease	0.90
Γ-SECRETASE COMPLEX	component_of	enzyme	0.90
Amyloid-beta	produces	compound	0.90
GLT-1	regulates	protein	0.90
AMYLOID-BETA	associated_with	protein	0.90
Alzheimer's Disease	risk_factor_for	disease	0.90
Synaptic Plasticity	regulates	process	0.90
AMYLOID-Β	upregulates	protein	0.90
Mitochondrial Dysfunction	causes	process	0.90
colorectal cancer	promotes	disease	0.88
AMYLOID PLAQUE ACCUMULATION	contributes_to	biological_process	0.88
NOTCH1	cleaves	protein	0.85
AMYLOID PRECURSOR PROTEIN	interacts_with	protein	0.85
Nectin Receptors	regulates	receptor	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
Amyloid-β	upregulates	protein	0.85
APP	cleaves	entity	0.80
Calcium	regulates	compound	0.80
gamma-secretase	part_of	protein	0.80
microglial phagocytosis	implicated_in	process	0.80
Aβ42/40	increases	compound	0.80
HES1	increases	protein	0.80

Incoming (703)

Source	Relation	Type	Str
APP	associated_with	gene	1.00
APOE	associated_with	gene	1.00
TAU	associated_with	protein	1.00
AMYLOID	associated_with	gene	1.00
NEURODEGENERATION	associated_with	gene	1.00
ALZHEIMER'S DISEASE	associated_with	gene	1.00
ds-f50762b67605	data_in	dataset	1.00
ds-83b31ef18d49	data_in	dataset	1.00
MICROGLIA	associated_with	gene	0.82
Metformin	downregulates	drug	0.80
CRISPR/CAS9	enables_genetic_modification_of	technology	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
NEUROINFLAMMATION	associated_with	gene	0.74
ASTROCYTES	associated_with	cell_type	0.74
Alzheimer	interacts_with	entity	0.70
PRESENILIN	associated_with	gene	0.70
ALZHEIMER	associated_with	gene	0.70
APP	activates	gene	0.66
TNF	associated_with	gene	0.66
APP	causes	gene	0.66
AMPK	associated_with	gene	0.66
APOPTOSIS	associated_with	gene	0.66
IL-6	associated_with	gene	0.66
PARKINSON'S DISEASE	associated_with	disease	0.66
APOE	contributes_to	gene	0.65
APP	treats	gene	0.65
APP	biomarker_for	gene	0.65
BACE1	promotes	gene	0.65
MAPT	promotes	gene	0.65
ASTROCYTE	associated_with	gene	0.65
WHITE MATTER	interacts_with	brain_region	0.65
NCSTN	interacts_with	gene	0.60
FAS	interacts_with	gene	0.60
TNF	interacts_with	gene	0.60
LMNA	interacts_with	gene	0.60
APH1B	interacts_with	gene	0.60
IL6	interacts_with	gene	0.60
SREBF1	interacts_with	gene	0.60
PSEN2	interacts_with	gene	0.60
A2M	interacts_with	gene	0.60
DHCR24	interacts_with	gene	0.60
HMGCR	interacts_with	gene	0.60
PARP1	interacts_with	gene	0.60
PEN2	interacts_with	gene	0.60
ULK1	associated_with	gene	0.60
BCL2	associated_with	gene	0.60
RAB9A	associated_with	gene	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

PSEN1

Understanding Entity Pages

Summary

Wiki Pages (21)

PSEN1 (Redirect)

Novel Therapy Index

Alzheimer's Disease Mechanism Index

Alzheimer's Disease

Circadian Rhythm in Neurodegeneration

DIAN-TU-001 Trial (NCT01760005)

Pathway Diagram

Outgoing (819)

Incoming (703)

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)

PSEN1

Understanding Entity Pages

Summary

Wiki Pages (21)

PSEN1 (Redirect)

Novel Therapy Index

Alzheimer's Disease Mechanism Index

Alzheimer's Disease

Circadian Rhythm in Neurodegeneration

DIAN-TU-001 Trial (NCT01760005)

omega-3-fatty-acids-neurodegeneration

rankings

Epigenetic Alterations in Alzheimer's Disease

Clinical Trials Dashboard

Amyloid Cascade Pathway

NACET (N-Acetylcysteine Ethyl Ester)

Gene-Mechanism-Therapy Causal Chains

Protein Aggregation Comparison in Neurodegeneration

PEN2 Gene

Epigenetic-Metabolic Coupling: SIRT1 Activator + NAD+ Precursor

Autophagy-Lysosomal Impairment Across Neurodegenerative Diseases

Amyloid-Beta Aggregation and Plaque Formation

Notch Signaling Pathway in Neurodegeneration

Amyloid-beta Fibril Formation Pathway

Cellular Senescence in Neurodegeneration

Pathway Diagram

Outgoing (819)

Incoming (703)

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)