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 (1)

Multi-Target Hypothesis: Aβ-Induced Cholinergic Damage is Pa
Score: 0.89

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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