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.

261Connections

0Hypotheses

0Analyses

50Outgoing

50Incoming

0Experiments

0Debates

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🧬 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, neurodegeneration, neuroinflammation, Parkinson's disease
Known Drugs/Compounds	aducanumab, donepezil, GINSENOSIDE_RO, lithium, metformin, nicotinamide
Interactions	ABCA1, ADAM10, ADRB2, AMPK, APOE, APOE4
KG Connections	261 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 (115)

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
Alzheimer's disease	associated_with	disease	0.90
astrocytes	expressed_in	cell_type	0.90
oxidative stress response	participates_in	pathway	0.90
neurons	expressed_in	cell_type	0.90
ubiquitin-proteasome	participates_in	pathway	0.90
autophagy pathway	participates_in	pathway	0.80
neurodegeneration	inhibits	disease	0.80
synaptic plasticity	participates_in	pathway	0.80
neurodegeneration	activates	disease	0.80
unfolded protein response	participates_in	pathway	0.75
glymphatic clearance	participates_in	pathway	0.75
senescence	participates_in	pathway	0.75
neurotrophin signaling	participates_in	pathway	0.75
NAD+ metabolism	participates_in	pathway	0.75
neurodegeneration	associated_with	disease	0.70
Alzheimer's disease	regulates	disease	0.70
ferroptosis	participates_in	pathway	0.70
mitochondrial function	participates_in	pathway	0.70
neuroinflammation	inhibits	disease	0.70
Parkinson's disease	associated_with	disease	0.65
Huntington's disease	associated_with	disease	0.65
SOD1	associated_with	gene	0.65
sphingolipid metabolism	participates_in	pathway	0.65
pericytes	expressed_in	cell_type	0.65
SQSTM1	activates	gene	0.60
SYP	activates	gene	0.60
TFEB	activates	gene	0.60
TNF	activates	gene	0.60
TGF	inhibits	gene	0.60
Alzheimer's disease	causes	disease	0.60
SIRT3	expressed_in	gene	0.60
SIRT3	activates	gene	0.60
SIRT3	associated_with	gene	0.60
complement cascade	participates_in	pathway	0.60
neuroinflammation	causes	disease	0.60
Alzheimer's disease	interacts_with	disease	0.60
PTN	expressed_in	gene	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

Incoming (146)

Source	Relation	Type	Str
APP	associated_with	gene	0.90
APP	activates	gene	0.90
APP	inhibits	gene	0.90
APP	regulates	gene	0.90
APP	protects_against	gene	0.90
APP	expressed_in	gene	0.80
APP	interacts_with	protein	0.80
ALZHEIMER'S_DISEASE	associated_with	disease	0.80
GINSENOSIDE_RO	inhibits	compound	0.80
AND	associated_with	gene	0.70
GFAP	associated_with	gene	0.70
ALS	associated_with	gene	0.65
BDNF	activates	gene	0.65
NRG1	regulates	gene	0.60
AMPK	inhibits	gene	0.60
NLRP3	inhibits	gene	0.60
LAMP2	activates	gene	0.60
LC3	activates	gene	0.60
NRG1	associated_with	gene	0.60
NRG1	activates	gene	0.60
CD36	associated_with	gene	0.60
NLRP3	associated_with	gene	0.60
BACE1	cleaves	gene	0.60
donepezil	targets	drug	0.60
metformin	targets	drug	0.60
NAD	biomarker_for	gene	0.60
BACE1	activates	gene	0.60
CD36	inhibits	gene	0.60
PPAR	regulates	gene	0.60
PPAR	associated_with	gene	0.60
DNA	regulates	gene	0.60
ATP	regulates	gene	0.60
APP	phosphorylates	gene	0.60
PP2A	phosphorylates	gene	0.60
GFAP	interacts_with	gene	0.60
CD36	expressed_in	gene	0.60
AMPK	regulates	gene	0.60
NEP	activates	gene	0.60
GLI	activates	gene	0.60
LC3B	biomarker_for	gene	0.60
P21	expressed_in	gene	0.60
P2X7	inhibits	gene	0.60
GLI2	activates	gene	0.60
FKBP5	activates	gene	0.60
DKK1	associated_with	gene	0.60
ADAM10	regulates	gene	0.60
GAPDH	activates	gene	0.60
NAD	inhibits	gene	0.60
LC3B	associated_with	gene	0.60
CD68	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

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 (0)

Multi-agent debates referencing this entity

No debates reference this entity

PS1

Understanding Entity Pages

Wiki Pages (20)

VPS13C Protein

RPS10 Gene - Ribosomal Protein S10

RPS15 Protein (Ribosomal Protein S15)

Ribosomal Protein S15a (RPS15A)

RPS13 — Ribosomal Protein S13

Presenilin-1 (PS1)

RPS11 — Ribosomal Protein S11

APP/PS1 Double Transgenic Mouse Model

RPS1 — Ribosomal Protein S1

VPS18 Gene

RPS16 — Ribosomal Protein S16

VPS13 Lipid Transport and Organelle Contact Site Modulation Therapy

RPS19 Gene

RPS19 Protein

RPS14 Gene - Ribosomal Protein S14

RPS12 Protein — Ribosomal Protein S12

VPS13C Gene

RPS15

VPS16 Gene

CAPS1 Gene