| Annotated protein: | Presenilin-1 (PS-1) (EC 3.4.23.-) (Protein S182) [Cleaved into: Presenilin-1 NTF subunit; Presenilin-1 CTF subunit; Presenilin-1 CTF12 (PS1-CTF12)]. Gene symbol: PSEN1. Taxonomy: Mus musculus (Mouse). Uniprot ID: P49769 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ PSEN1 |
| Ontology domain: | Biological Process |
| SynGO term: | regulation of synaptic vesicle cycle (GO:0098693) |
| Synapse type(s): | hippocampus |
| Annotated paper: | Priller C, et al. "Mutant presenilin 1 alters synaptic transmission in cultured hippocampal neurons" J Biol Chem. 2007 Jan 12;282(2):1119-27 PMID:17088253 |
| Figure(s): | Figure 2 and 3 |
| Annotation description: | Figure 2A and B: Frequency of spontaneous mEPSC activity was significantly lower in PS1mut neurons than in PS1 WT neurons and non-transgenic cells. Figure 2D: the number of vesicles released during an EPSC was determined and found to be significantly lower in the case of PS1mut neuron. Amount of RRP vesicles was calculated by dividing the total charge of the transient current component (Figure 3A) after application of hypertonic sucrose by the charge of a single mEPSC measured from the same cell. Figure 3B: Neurons from PS1mut mice showed significantly less releasable vesicles in their RRP compared with neurons from nontransgenic and PS1 wild-type mice. Figure 3C: Vesicular release probability was not different between PS1 mutant, WT and non-transgenic neurons. In summary, these results indicate that PS1 does not affect the vesicular release probability. The decreases in synaptic responses in PS1mut can be attributed to the decrease in RRP in the presynapse. The term 'regulation of synaptic vesicle cycle' was used due to a lack of evidence on the mechanism by which PSEN1 mutation causes a reduction in RRP and number of vesicles that are released during an EPSC. |
| Evidence tracking, Biological System: | Cultured neurons |
| Evidence tracking, Protein Targeting: | Genetic transformation (eg; knockout, knockin, mutations) |
| Evidence tracking, Experiment Assay: | Whole-cell patch clamp |
| Annotator(s): | Dnyanada Sahasrabudhe (ORCID:0000-0003-2916-7616) Guus Smit (ORCID:0000-0002-2286-1587) Matthijs Verhage (ORCID:0000-0002-2514-0216) |
| Lab: | Department of Functional Genomics, Department of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands |
| SynGO annotation ID: | 4024 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |