gene 3,596 words KG: PSEN1
Contents

PSEN1 — Presenilin 1

🧬 Gene Info
Gene SymbolPSEN1
Full NamePresenilin 1
Chromosome14q24.2
Protein TypeAspartyl protease (catalytic subunit)
Functionβ-Secretase Cleavage: APP is first cleaved by BACE1 to generate C99 (membrane-bound C-terminal fragment)
Molecular Weight27 kDa
Amino Acids467 aa
PathwaysAmyloid, Autophagy, Blood-Brain Barrier, Cholesterol, Dysbiosis
UniProt IDP49768
NCBI Gene ID5663
GeneCardsPSEN1
Human Protein AtlasPSEN1
Associated DiseasesAD, Aging, Als, Alzheimer
Known Drugs/Compoundsrapamycin, RAPAMYCIN
InteractionsA2M, ABCA1, ABCA7, ACE, Actin, AD
KG Connections1603 knowledge graph edges
DatabasesGeneCardsHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Related Hypotheses (47)

Mitochondrial-Nuclear Epigenetic Cross-Talk Restoration
Score: 0.70
Nutrient-Sensing Epigenetic Circuit Reactivation
Score: 0.70
CX43 hemichannel engineering enables size-selective mitochon
Score: 0.69
RAB27A-dependent extracellular vesicle engineering for mitoc
Score: 0.67
Partial Neuronal Reprogramming via Modified Yamanaka Cocktai
Score: 0.67
Temporal TET2-Mediated Hydroxymethylation Cycling
Score: 0.66
Designer TRAK1-KIF5 fusion proteins accelerate therapeutic m
Score: 0.62
← Prevpg 3/3

Related Analyses (19)

Do β-amyloid plaques and neurofibrillary tangles cause or re
neurodegeneration · completed
Selective vulnerability of entorhinal cortex layer II neuron
neurodegeneration · archived
4R-tau strain-specific spreading patterns in PSP vs CBD
neurodegeneration · archived
TDP-43 phase separation therapeutics for ALS-FTD
neurodegeneration · archived
Microglia-astrocyte crosstalk amplification loops in neurode
neurodegeneration · archived

Related Experiments (7)

Adoptive transfer of TCRAβ-Tregs in AD mouse model
validation · proposed · Score: 0.90
Creation and validation of 3xAD-ChAT-Cre mouse model
validation · proposed · Score: 0.90
Behavioral assessment of APP/PSEN1/GD3S triple-mutant mice
validation · proposed · Score: 0.90
Amyloid plaque load analysis in triple-mutant mouse brains
exploratory · proposed · Score: 0.88
Tet2 expression analysis in aged 2×Tg-AD mouse brains
exploratory · proposed · Score: 0.85

See Also (15)

ADAM10 — A Disintegrin And Metalloproteinase Domain 10
gene · KG edge: associated_with
ABCA2 Gene - ATP Binding Cassette Subfamily A Member 2
gene · KG edge: transports
ABCA1 - ATP-Binding Cassette Transporter A1
gene · KG edge: associated_with
ACE Gene
gene · KG edge: associated_with
adam17
gene · KG edge: associated_with

Knowledge Graph (12 edges)

PSEN1 regulates calcium
PSEN1 causes EOAD
PSEN1 expressed_in ENDOPLASMIC_RETICULUM
FAS interacts_with PSEN1
TNF interacts_with PSEN1
LMNA interacts_with PSEN1
APH1B interacts_with PSEN1
APOE interacts_with PSEN1
IL6 interacts_with PSEN1
SREBF1 interacts_with PSEN1

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