Entity Detail — Knowledge Graph Node
This page aggregates everything SciDEX knows about PRESENILIN: 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.
PRESENILIN is a protein involved in neurodegeneration research. Key relationships include: interacts with, associated with, regulates. Associated with ALS, Aging, Als. Connected to 477 entities in the SciDEX knowledge graph.
| Gene Symbol | PRESENILIN |
| Chromosome | 14q24.2 |
| Primary Expression | Ca1, Hippocampus, Cortex, Parietal Lobe, Gray Matter |
| Pathways | autophagy pathway, proteasome pathway, Oxidative Stress, Apoptosis, Autophagy |
| GeneCards | PRESENILIN |
| Human Protein Atlas | PRESENILIN |
| [app](/genes/app) | Generates amyloid-beta peptides of varying lengths (Aβ37–43) |
| E-cadherin | Cell adhesion molecule; cleavage modulates cell-cell contacts |
| ErbB4 | Receptor tyrosine kinase; cleavage releases signaling domain |
| ER calcium regulation | PS1 functions as an ER calcium leak channel; FAD mutations reduce this function, increasing ER calcium stores and sensitizing neurons to calcium-dependent excitotoxicity |
| Wnt/β-catenin signaling | PS1 interacts with β-catenin and gsk3-beta, modulating Wnt signaling independently of Notch processing |
| Protein trafficking | Facilitates transport of proteins through the ER-Golgi secretory pathway |
| Predominantly missense mutations | Single amino acid substitutions affecting gamma-secretase processivity |
| Associated Diseases | ALS, Aging, Alzheimer, Alzheimer Disease, Alzheimer'S Disease |
| Interactions | DNA, CANX, MIRO1, EIF2S1, CAT, LC3 |
| KG Connections | 1035 knowledge graph edges |
| Databases | GeneCardsUniProtNCBI GeneHPASTRING |
Knowledge base pages for this entity
graph TD
PRESENILIN["PRESENILIN"] -->|"Causes"| FAMILIAL_AD["FAMILIAL_AD"]
PRESENILIN["PRESENILIN"] -->|"Interacts With"| Dementia["Dementia"]
PRESENILIN["PRESENILIN"] -->|"Interacts With"| Alzheimer["Alzheimer"]
PRESENILIN["PRESENILIN"] -->|"Interacts With"| Als["Als"]
PRESENILIN["PRESENILIN"] -->|"Interacts With"| Cardiovascular["Cardiovascular"]
PRESENILIN["PRESENILIN"] -->|"Interacts With"| Parkinson["Parkinson"]
PRESENILIN["PRESENILIN"] -->|"Interacts With"| Ms["Ms"]
PRESENILIN["PRESENILIN"] -->|"Associated With"| Neurodegeneration["Neurodegeneration"]
MFN1["MFN1"] -->|"Interacts With"| PRESENILIN["PRESENILIN"]
DNM1L["DNM1L"] -->|"Interacts With"| PRESENILIN["PRESENILIN"]
DDIT3["DDIT3"] -->|"Interacts With"| PRESENILIN["PRESENILIN"]
ABCD3["ABCD3"] -->|"Interacts With"| PRESENILIN["PRESENILIN"]
LMNA["LMNA"] -->|"Interacts With"| PRESENILIN["PRESENILIN"]
style PRESENILIN fill:#0d47a1,color:#e0e0e0
style FAMILIAL_AD fill:#b71c1c,color:#e0e0e0
style Dementia fill:#b71c1c,color:#e0e0e0
style Alzheimer fill:#b71c1c,color:#e0e0e0
style Als fill:#b71c1c,color:#e0e0e0
style Cardiovascular fill:#b71c1c,color:#e0e0e0
style Parkinson fill:#b71c1c,color:#e0e0e0
style Ms fill:#b71c1c,color:#e0e0e0
style Neurodegeneration fill:#b71c1c,color:#e0e0e0
style MFN1 fill:#8d4900,color:#e0e0e0
style DNM1L fill:#8d4900,color:#e0e0e0
style DDIT3 fill:#8d4900,color:#e0e0e0
style ABCD3 fill:#8d4900,color:#e0e0e0
style LMNA fill:#8d4900,color:#e0e0e0| Target | Relation | Type | Str |
|---|---|---|---|
| Alzheimer | associated_with | disease | 1.00 |
| AMYLOID | associated_with | gene | 1.00 |
| Als | associated_with | disease | 0.95 |
| Alzheimer | therapeutic_target | disease | 0.95 |
| APP | associated_with | gene | 0.90 |
| ALZHEIMER'S DISEASE | associated_with | gene | 0.90 |
| autophagy pathway | regulates | pathway | 0.88 |
| proteasome pathway | regulates | pathway | 0.88 |
| Als | regulates | disease | 0.85 |
| Aging | associated_with | disease | 0.85 |
| Dementia | associated_with | disease | 0.85 |
| AMYLOID | therapeutic_target | gene | 0.80 |
| ALZHEIMER'S DISEASE | therapeutic_target | gene | 0.80 |
| Neurodegeneration | associated_with | disease | 0.75 |
| Neurodegeneration | regulates | disease | 0.75 |
| Alzheimer | regulates | disease | 0.75 |
| Alzheimer | activates | disease | 0.75 |
| Dementia | causes | disease | 0.75 |
| Alzheimer | causes | disease | 0.75 |
| FAMILIAL_AD | causes | disease | 0.72 |
| PSEN1 | associated_with | gene | 0.70 |
| Oxidative Stress | regulates | pathway | 0.70 |
| GENES | associated_with | gene | 0.70 |
| CTSD | associated_with | gene | 0.70 |
| DEMENTIA | causes | gene | 0.70 |
| AMYLOID | regulates | gene | 0.70 |
| ALZHEIMER'S DISEASE | causes | gene | 0.70 |
| GENES | therapeutic_target | gene | 0.70 |
| APP | regulates | gene | 0.70 |
| Dementia | interacts_with | disease | 0.65 |
| Alzheimer | interacts_with | disease | 0.65 |
| Als | interacts_with | disease | 0.65 |
| Cardiovascular | interacts_with | disease | 0.65 |
| Parkinson | interacts_with | disease | 0.65 |
| Ms | interacts_with | disease | 0.65 |
| Cancer | associated_with | disease | 0.65 |
| Cardiovascular | associated_with | disease | 0.65 |
| Ischemia | associated_with | disease | 0.65 |
| Parkinson | associated_with | disease | 0.65 |
| Ms | associated_with | disease | 0.65 |
| Dementia | expressed_in | disease | 0.65 |
| Alzheimer | expressed_in | disease | 0.65 |
| Als | expressed_in | disease | 0.65 |
| Tauopathy | expressed_in | disease | 0.65 |
| Aging | expressed_in | disease | 0.65 |
| Stroke | regulates | disease | 0.65 |
| Parkinson | regulates | disease | 0.65 |
| Aging | regulates | disease | 0.65 |
| Ms | regulates | disease | 0.65 |
| Neurodegeneration | inhibits | disease | 0.65 |
| Source | Relation | Type | Str |
|---|---|---|---|
| ALZHEIMER | associated_with | gene | 1.00 |
| P60TRP | inhibits | protein | 0.80 |
| ALZHEIMER | therapeutic_target | gene | 0.80 |
| PSEN2 | associated_with | gene | 0.70 |
| APP | associated_with | gene | 0.70 |
| ALZHEIMER'S DISEASE | associated_with | gene | 0.70 |
| TAU | regulates | gene | 0.70 |
| OXIDATIVE STRESS | regulates | gene | 0.70 |
| NEURODEGENERATION | associated_with | gene | 0.70 |
| NEURODEGENERATION | regulates | gene | 0.70 |
| TAU | causes | gene | 0.70 |
| ALZHEIMER | causes | gene | 0.70 |
| MFN1 | interacts_with | gene | 0.60 |
| DNM1L | interacts_with | gene | 0.60 |
| DDIT3 | interacts_with | gene | 0.60 |
| ABCD3 | interacts_with | gene | 0.60 |
| LMNA | interacts_with | gene | 0.60 |
| MAP1LC3B | interacts_with | gene | 0.60 |
| OPTN | interacts_with | gene | 0.60 |
| AMBRA1 | interacts_with | gene | 0.60 |
| CTSD | interacts_with | gene | 0.60 |
| MUL1 | interacts_with | gene | 0.60 |
| PARKIN | interacts_with | gene | 0.60 |
| PRKN | interacts_with | gene | 0.60 |
| BNIP3L | interacts_with | gene | 0.60 |
| HIF1A | interacts_with | gene | 0.60 |
| GBA | interacts_with | gene | 0.60 |
| BCL2 | interacts_with | gene | 0.60 |
| AMPK | interacts_with | gene | 0.60 |
| NDP52 | interacts_with | gene | 0.60 |
| RHOT1 | interacts_with | gene | 0.60 |
| HIF1 | interacts_with | gene | 0.60 |
| SQSTM1 | interacts_with | gene | 0.60 |
| BNIP3 | interacts_with | gene | 0.60 |
| ATM | interacts_with | gene | 0.60 |
| LC3B | interacts_with | gene | 0.60 |
| DRP1 | interacts_with | gene | 0.60 |
| SESN2 | interacts_with | gene | 0.60 |
| RB1 | interacts_with | gene | 0.60 |
| ATG | interacts_with | gene | 0.60 |
| BCL2L13 | interacts_with | gene | 0.60 |
| SNCAIP | interacts_with | gene | 0.60 |
| ERN1 | interacts_with | gene | 0.60 |
| P62 | interacts_with | gene | 0.60 |
| PINK1 | interacts_with | gene | 0.60 |
| LGALS3 | interacts_with | gene | 0.60 |
| RB1CC1 | interacts_with | gene | 0.60 |
| BECN1 | interacts_with | gene | 0.60 |
| RIPK3 | interacts_with | gene | 0.60 |
| EPAS1 | interacts_with | gene | 0.60 |
Hypotheses where this entity is a therapeutic target
| Hypothesis | Score | Disease | Analysis |
|---|---|---|---|
| No targeting hypotheses | |||
Scientific analyses that reference this entity
neurodegeneration | 2026-04-13 | 0 hypotheses
Scientific publications cited in analyses involving this entity
| Title & PMID | Authors | Journal | Year | Citations |
|---|---|---|---|---|
| No papers found | ||||