Harmonizome 3.0

presenilin 1

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term psen1 in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

From Pathway Commons Protein-Protein Interactions

interacting proteins for PSEN1 from the Pathway Commons Protein-Protein Interactions dataset.

From LINCS L1000 CMAP CRISPR Knockout Consensus Signatures

genes differentially expressed following the PSEN1 gene perturbation from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.

From CM4AI KOLF21J CRISPRi Gene Perturbation Atlas

genes differentially expressed following the PSEN1 gene perturbation from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas.

From CORUM Protein Complexes

proteins in the APH1A-PSEN1-NCSTN complex protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Gamma-secretase complex (Aph1a, Ncstn, Psen1, Psenen, Tmp21) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN variant) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Gamma-secretase complex (APH1A, PSEN1, PSENEN, NCSTN) protein complex from the CORUM Protein Complexes dataset.

From CORUM Protein Complexes

proteins in the Gamma-secretase complex (APH1B, PSEN1, PSENEN, NCSTN) protein complex from the CORUM Protein Complexes dataset.