| Annotated protein: | Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1). Gene symbol: SCN1A. Taxonomy: Homo sapiens (Human). Uniprot ID: P35498 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ SCN1A |
| Ontology domain: | Biological Process |
| SynGO term: | voltage-gated ion channel activity involved in regulation of presynaptic membrane potential (GO:0099508) |
| Annotated paper: | Bechi G, et al. "Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations" Epilepsia. 2012 Jan;53(1):87-100 PMID:22150645 |
| Figure(s): | Fig. 2 |
| Annotation description: | Electrophysiological characterisation of Na(v)1.1 expressed in sA-201 cells using WC patch-clamp. rule: NAS_MFCC-BP rationale: Protein has voltage-gated ion channel activity and is localized in the presynaptic membrane (show with high-resolution technique). The inference to term 'voltage-gated ion channel activity involved in regulation of presynaptic membrane potential (GO:0099508)' is trivial and non-controversial. Pinf_CC: [P04774] SyNGO ID 1341 (PMID:18079688, EM) |
| Evidence tracking, Biological System: | Non-neuronal tissue |
| Evidence tracking, Protein Targeting: | Over-expression |
| Evidence tracking, Experiment Assay: | Whole-cell patch clamp |
| Non-tracable Author Statement (NAS): | This annotation required some inference over additional information/literature, and is not solely based on observations made in the annotated paper by its original authors. |
| Annotator(s): | Niels Cornelisse (ORCID:0000-0001-9425-2935) Matthijs Verhage (ORCID:0000-0002-2514-0216) |
| Lab: | Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands |
| SynGO annotation ID: | 1347 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |