| Annotated protein: | Gamma-aminobutyric acid receptor subunit beta-1 (GABA(A) receptor subunit beta-1). Gene symbol: GABRB1. Taxonomy: Homo sapiens (Human). Uniprot ID: P18505 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ GABRB1 |
| Ontology domain: | Biological Process |
| SynGO term: | ligand-gated ion channel activity involved in regulation of presynaptic membrane potential (GO:0099507) |
| Annotated paper: | Janve VS, et al. "Epileptic encephalopathy de novo GABRB mutations impair gamma-aminobutyric acid type A receptor function" Ann Neurol. 2016 May;79(5):806-825 PMID:26950270 |
| Figure(s): | Fig. 2, Fig. 3 |
| Annotation description: | WC patch-clamp current measurements of beta1 containing GABAR's expressed in HEK cells. rule: NAS_MFCC-BP rationale: Protein has ligand-gated ion channel receptor activity and is localized in the presynaptic membrane (shown with high-resolution technique). The inference to term ligand-gated ion channel activity involved in regulation of presynaptic membrane potential (GO:0099507) is trivial and non-controversial. Pinf_CC: [P15431] SyNGO ID 1269 (PMID:14686901, EM) [P15431] SyNGO ID 1274 (PMID:15174078, 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: | 1337 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |