| Annotated protein: | Guanine nucleotide exchange factor C9orf72 homolog. Gene symbol: C9ORF72. Taxonomy: Mus musculus (Mouse). Uniprot ID: Q6DFW0 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ C9ORF72 |
| Ontology domain: | Biological Process |
| SynGO term: | regulation of synaptic vesicle cycle (GO:0098693) |
| Synapse type(s): | hippocampus |
| Annotated paper: | Bauer CS, et al. "An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD" Acta Neuropathol. 2022 Sep;144(3):437-464 PMID:35876881 |
| Figure(s): | Figure 2, 7 |
| Annotation description: | Figure 2: The N-terminal longin domain of C9orf72 interacts with the conserved C domain of synapsins. Figure 7: Loss of C9orf72 strongly reduced synaptic vesicle pools in the hippocampus in vivo, as shown by transmission electron micrographs of the CA3 region of the hippocampus from 12-week old C9orf72-WT or C9orf72-KO mice. |
| Evidence tracking, Biological System: | Intact tissue |
| Evidence tracking, Protein Targeting: | none of the above |
| Evidence tracking, Experiment Assay: | Electron Microscopy |
| Annotator(s): | Frank Koopmans (ORCID:0000-0002-4973-5732) 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: | 4808 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |