file:human/PSEN1/PSEN1-notes.md
Manual PSEN1 curation notes
GO_REF:0000002
Gene Ontology annotation through association of InterPro records with GO terms
GO_REF:0000024
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
GO_REF:0000033
Annotation inferences using phylogenetic trees
GO_REF:0000044
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
GO_REF:0000052
Gene Ontology annotation based on curation of immunofluorescence data
GO_REF:0000107
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
GO_REF:0000108
Automatic assignment of GO terms using logical inference, based on on inter-ontology links
GO_REF:0000117
Electronic Gene Ontology annotations created by ARBA machine learning models
GO_REF:0000120
Combined Automated Annotation using Multiple IEA Methods
PMID:10508860
Presenilin 1 suppresses the function of c-Jun homodimers via interaction with QM/Jif-1.
PMID:10551805
Identification of a novel PSD-95/Dlg/ZO-1 (PDZ)-like protein interacting with the C terminus of presenilin-1.
PMID:10593990
Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch.
PMID:10801983
Presenilin 1 is linked with gamma-secretase activity in the detergent solubilized state.
PMID:10805794
Behavioral alterations associated with apoptosis and down-regulation of presenilin 1 in the brains of p53-deficient mice.
PMID:11076969
Identification of ubiquilin, a novel presenilin interactor that increases presenilin protein accumulation.
PMID:11083918
X11 alpha and x11 beta interact with presenilin-1 via their PDZ domains.
PMID:11880515
The relationship between Abeta and memory in the Tg2576 mouse model of Alzheimer's disease.
PMID:11953314
A presenilin-1/gamma-secretase cleavage releases the E-cadherin intracellular domain and regulates disassembly of adherens junctions.
PMID:11987239
Identification of the presenilins in hematopoietic cells with localization of presenilin 1 to neutrophil and platelet granules.
PMID:12297508
Mammalian APH-1 interacts with presenilin and nicastrin and is required for intramembrane proteolysis of amyloid-beta precursor protein and Notch.
PMID:12377771
The novel presenilin-1-associated protein is a proapoptotic mitochondrial protein.
PMID:12522139
PEN-2 and APH-1 coordinately regulate proteolytic processing of presenilin 1.
PMID:12763021
APH1, PEN2, and Nicastrin increase Abeta levels and gamma-secretase activity.
PMID:12901838
Presenilin-1 interacts directly with the beta-site amyloid protein precursor cleaving enzyme (BACE1).
PMID:15004326
A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical, neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations.
PMID:15274632
Purification and characterization of the human gamma-secretase complex.
PMID:15322109
Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes.
PMID:16007100
Autoinhibition of X11/Mint scaffold proteins revealed by the closed conformation of the PDZ tandem.
PMID:16641999
TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.
PMID:16959576
Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations.
PMID:17428795
Ligand binding and calcium influx induce distinct ectodomain/gamma-secretase-processing pathways of EphB2 receptor.
PMID:17431506
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.
PMID:18201567
Cellular localization of Nicastrin affects amyloid beta species production.
PMID:20299451
Human CRB2 inhibits gamma-secretase cleavage of amyloid precursor protein by binding to the presenilin complex.
PMID:20445063
Memory impairment in transgenic Alzheimer mice requires cellular prion protein.
PMID:21115843
Activation and intrinsic gamma-secretase activity of presenilin 1.
PMID:21143716
Alzheimer's disease-associated ubiquilin-1 regulates presenilin-1 accumulation and aggresome formation.
PMID:21163940
Interactome mapping suggests new mechanistic details underlying Alzheimer's disease.
PMID:21951279
Role of presenilin 1 in structural plasticity of cortical dendritic spines in vivo.
PMID:22375059
Different effects of Sec61α, Sec62 and Sec63 depletion on transport of polypeptides into the endoplasmic reticulum of mammalian cells.
PMID:23152628
LRP1 in brain vascular smooth muscle cells mediates local clearance of Alzheimer's amyloid-β.
PMID:23794287
Presenilin-1 regulates the expression of p62 to govern p62-dependent tau degradation.
PMID:24012003
Metabotropic glutamate receptor 5 is a coreceptor for Alzheimer aβ oligomer bound to cellular prion protein.
PMID:24052308
Human LilrB2 is a β-amyloid receptor and its murine homolog PirB regulates synaptic plasticity in an Alzheimer's model.
PMID:24217950
Ligand-dependent activation of EphA4 signaling regulates the proteolysis of amyloid precursor protein through a Lyn-mediated pathway.
PMID:25394380
G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation.
PMID:25542424
The miR-193a-3p regulated PSEN1 gene suppresses the multi-chemoresistance of bladder cancer.
PMID:25959826
Quantitative interaction proteomics of neurodegenerative disease proteins.
PMID:26094765
Proton myo-inositol cotransporter is a novel γ-secretase associated protein that regulates Aβ production without affecting Notch cleavage.
PMID:26200696
Dual pathways mediate β-amyloid stimulated glutathione release from astrocytes.
PMID:26280335
An atomic structure of human γ-secretase.
PMID:27608597
Specific combinations of presenilins and Aph1s affect the substrate specificity and activity of γ-secretase.
PMID:28008308
The Protective Role of microRNA-200c in Alzheimer's Disease Pathologies Is Induced by Beta Amyloid-Triggered Endoplasmic Reticulum Stress.
PMID:29061364
Inflammatory microglia are glycolytic and iron retentive and typify the microglia in APP/PS1 mice.
PMID:29611543
Intracellular trafficking of TREM2 is regulated by presenilin 1.
PMID:30559186
Bax inhibitor 1 is a γ-secretase-independent presenilin-binding protein.
PMID:7596406
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
PMID:8574969
Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.
PMID:8755489
Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo.
PMID:8878479
Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1.
PMID:9223340
Interaction between amyloid precursor protein and presenilins in mammalian cells: implications for the pathogenesis of Alzheimer disease.
PMID:9246482
Two homologous genes causing early-onset familial Alzheimer's disease.
PMID:9298903
Alzheimer presenilins in the nuclear membrane, interphase kinetochores, and centrosomes suggest a role in chromosome segregation.
PMID:9632714
The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin.
PMID:9689133
Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau.
PMID:9738936
Direct association of presenilin-1 with beta-catenin.
Reactome:R-HSA-1251997
Cleavage of ERBB4m80 by gamma-scretase complex
Reactome:R-HSA-193682
gamma-secretase cleaves the p75NTR transmembrane domain
Reactome:R-HSA-205112
gamma-secretase cleaves p75NTR, releasing NRIF and TRAF6
Reactome:R-HSA-2220988
NEXT1 PEST domain mutants are cleaved to produce NICD1 PEST domain mutants
Reactome:R-HSA-3928656
gamma-secretase cleaves EPHB2
Reactome:R-HSA-6798739
Exocytosis of azurophil granule membrane proteins
Reactome:R-HSA-9013361
NEXT3 is cleaved to produce NICD3
Reactome:R-HSA-9017817
Gamma-secretase cleaves YBX1:NOTCH3
Reactome:R-HSA-9839376
TGFBR3(784-851) degradation
Reactome:R-NUL-2197556
Gamma-secretase complex cleaves mNEXT2
Reactome:R-NUL-9604300
Gamma-secretase cleaves Notch4