gene

PS1

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about PS1: 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.

267Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

No summary available yet. View on Wiki →

🧬 Gene Info

Gene Symbol	PSEN1
Full Name	Presenilin 1
Aliases	PS1, AD3, FAD
Chromosome	14q24.3
Protein Type	Integral membrane protease
Function	Catalytic subunit of gamma-secretase complex; cleaves amyloid precursor protein (APP) to generate amyloid-beta peptides. Mutations cause early-onset familial Alzheimer's disease.
Molecular Weight	52 kDa
Amino Acids	467 aa
Pathways	Amyloid processing, Notch signaling, Wnt signaling, Autophagy
UniProt ID	P49768
NCBI Gene ID	5663
Ensembl ID	ENSG00000080815
OMIM	104311
GeneCards	PSEN1
Human Protein Atlas	PSEN1
Associated Diseases	Alzheimer's disease, Huntington's disease, Parkinson's disease, neurodegeneration, neuroinflammation
Known Drugs/Compounds	lithium, aducanumab, nicotinamide, rapamycin, donepezil, metformin
Interactions	TREM2, PSEN1, RAGE, RNA, STX17, SIRT1
KG Connections	267 knowledge graph edges
Databases	GeneCards HPA STRING

🔮 Predicted Structure: PS1 — AlphaFold P49768 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (20)

Knowledge base pages for this entity

Pathway Diagram

graph TD
    PS1["PS1"] -->|"risk factor for"| Familial_Alzheimer_s_Disease["Familial Alzheimer's Disease"]
    style Familial_Alzheimer_s_Disease fill:#1a2a3a,stroke:#ef5350,stroke-width:1px,color:#fff
    PS1["PS1"] -->|"causes"| Mitochondrial_Dysfunction["Mitochondrial Dysfunction"]
    style Mitochondrial_Dysfunction fill:#1a2a3a,stroke:#ffd54f,stroke-width:1px,color:#fff
    PS1["PS1"] -->|"expressed in"| microglia["microglia"]
    style microglia fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
    PS1["PS1"] -->|"expressed in"| neurons["neurons"]
    style neurons fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
    PS1["PS1"] -->|"expressed in"| astrocytes["astrocytes"]
    style astrocytes fill:#1a2a3a,stroke:#4fc3f7,stroke-width:1px,color:#fff
    PS1["PS1"] -->|"associated"| Alzheimer_s_disease["Alzheimer's disease"]
    style Alzheimer_s_disease fill:#1a2a3a,stroke:#ef5350,stroke-width:1px,color:#fff
    PS1["PS1"] -->|"participates in"| oxidative_stress_response["oxidative stress response"]
    style oxidative_stress_response fill:#1a2a3a,stroke:#81c784,stroke-width:1px,color:#fff
    APP["APP"] -->|"protects against"| PS1["PS1"]
    style APP fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
    AND["AND"] -->|"associated"| PS1["PS1"]
    style AND fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
    GFAP["GFAP"] -->|"associated"| PS1["PS1"]
    style GFAP fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
    BDNF["BDNF"] -->|"activates"| PS1["PS1"]
    style BDNF fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
    ALS["ALS"] -->|"associated"| PS1["PS1"]
    style ALS fill:#1a2a3a,stroke:#ce93d8,stroke-width:1px,color:#fff
    style PS1 fill:#4a1a6b,stroke:#4fc3f7,stroke-width:2px,color:#e0e0e0,font-weight:bold

Outgoing (117)

Target	Relation	Type	Str
Familial Alzheimer's Disease	risk_factor_for	disease	0.95
Mitochondrial Dysfunction	causes	process	0.90
microglia	expressed_in	cell_type	0.90
neurons	expressed_in	cell_type	0.90
astrocytes	expressed_in	cell_type	0.90
Alzheimer's disease	associated_with	disease	0.90
oxidative stress response	participates_in	pathway	0.90
ubiquitin-proteasome	participates_in	pathway	0.90
neurodegeneration	activates	disease	0.80
autophagy pathway	participates_in	pathway	0.80
neurodegeneration	inhibits	disease	0.80
synaptic plasticity	participates_in	pathway	0.80
neurotrophin signaling	participates_in	pathway	0.75
NAD+ metabolism	participates_in	pathway	0.75
senescence	participates_in	pathway	0.75
glymphatic clearance	participates_in	pathway	0.75
unfolded protein response	participates_in	pathway	0.75
mitochondrial function	participates_in	pathway	0.70
ferroptosis	participates_in	pathway	0.70
neuroinflammation	inhibits	disease	0.70
neurodegeneration	associated_with	disease	0.70
Alzheimer's disease	regulates	disease	0.70
sphingolipid metabolism	participates_in	pathway	0.65
Parkinson's disease	associated_with	disease	0.65
Huntington's disease	associated_with	disease	0.65
SOD1	associated_with	gene	0.65
pericytes	expressed_in	cell_type	0.65
Alzheimer's disease	co_expressed_with	disease	0.60
Alzheimer's disease	interacts_with	disease	0.60
neuroinflammation	activates	disease	0.60
SQSTM1	biomarker_for	gene	0.60
apoptosis pathway	participates_in	pathway	0.60
lipid metabolism	participates_in	pathway	0.60
neuroinflammation	protects_against	disease	0.60
SYP	regulates	gene	0.60
neuroinflammation	regulates	disease	0.60
SREBF2	regulates	gene	0.60
neuroinflammation	associated_with	disease	0.60
epigenetic regulation	participates_in	pathway	0.60
TREM2	activates	gene	0.60
SIRT2	protects_against	gene	0.60
PSEN1	activates	gene	0.60
Alzheimer's disease	activates	disease	0.60
RAGE	activates	gene	0.60
RNA	inhibits	gene	0.60
TGF-beta signaling	participates_in	pathway	0.60
ROS	regulates	gene	0.60
ROS	associated_with	gene	0.60
SYP	associated_with	gene	0.60
RNA	associated_with	gene	0.60

Incoming (150)

Source	Relation	Type	Str
APP	protects_against	gene	0.90
APP	associated_with	gene	0.90
APP	inhibits	gene	0.90
APP	activates	gene	0.90
APP	regulates	gene	0.90
APP	interacts_with	protein	0.80
APP	expressed_in	gene	0.80
GINSENOSIDE_RO	inhibits	compound	0.80
ALZHEIMER'S_DISEASE	associated_with	disease	0.80
AND	associated_with	gene	0.70
GFAP	associated_with	gene	0.70
APP	implicated_in	gene	0.70
BDNF	activates	gene	0.65
ALS	associated_with	gene	0.65
APP	co_expressed_with	gene	0.60
CD68	inhibits	gene	0.60
NEP	associated_with	gene	0.60
NEP	activates	gene	0.60
BOK	interacts_with	gene	0.60
APOE	activates	gene	0.60
LC3B	associated_with	gene	0.60
APP	biomarker_for	gene	0.60
GFAP	biomarker_for	gene	0.60
LC3B	biomarker_for	gene	0.60
AMPK	regulates	gene	0.60
GPX4	inhibits	gene	0.60
FLOT1	protects_against	gene	0.60
ADAM10	regulates	gene	0.60
NAD	inhibits	gene	0.60
NAMPT	inhibits	gene	0.60
NAD	associated_with	gene	0.60
LDL	associated_with	gene	0.60
PINK1	regulates	gene	0.60
IBA1	associated_with	gene	0.60
HDAC3	interacts_with	gene	0.60
P21	expressed_in	gene	0.60
ADNP	protects_against	gene	0.60
P2X7	inhibits	gene	0.60
ADRB2	activates	gene	0.60
APP	targets	gene	0.60
CR1	associated_with	gene	0.60
ATP	interacts_with	gene	0.60
ABCA7	associated_with	gene	0.60
ERK	regulates	gene	0.60
APOE4	interacts_with	gene	0.60
BDNF	associated_with	gene	0.60
NGF	associated_with	gene	0.60
DKK1	associated_with	gene	0.60
DKK1	activates	gene	0.60
DKK1	inhibits	gene	0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

Hypothesis	Score	Disease	Analysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMID	Authors	Journal	Year	Citations
No papers found

PS1

Understanding Entity Pages

Wiki Pages (20)

Novel Therapy Index

neuroinflammation

NRF2 Oxidative Stress Pathway

Astrocyte Reactivity Mechanism

ncam2

gabaergic-dysfunction

dendritic-spines

omega-3-fatty-acids-neurodegeneration

Vitamin D Signaling Pathway in Neurodegeneration

Sulforaphane and Nrf2 Activation for Neuroprotection

Coenzyme Q10 for Neurodegeneration

blood-brain-barrier

Epigenetic Dysregulation in Neurodegeneration

dimethyl-fumarate-nrf2-ad-nct06850597

Charité - Universitätsmedizin Berlin

A Phase 3, Randomised, Double-blinded, Placebo-controlled Study to Evaluate the Efficacy, Tolerability, and Safety of Combined Metabolic Activator Supplementation in Subjects Diagnosed With Alzheimer's Disease

Ferroptosis in Alzheimer's Disease

Traumatic Brain Injury and Neurodegeneration Pathway