| Annotated protein: | Acetylcholine receptor subunit alpha. Gene symbol: CHRNA1. Taxonomy: Homo sapiens (Human). Uniprot ID: P02708 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ CHRNA1 |
| Ontology domain: | Biological Process |
| SynGO term: | transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315) |
| Synapse type(s): | Neuro-muscular junction |
| Annotated paper: | Milone M, et al. "Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit" J Neurosci. 1997 Aug 1;17(15):5651-65 PMID:9221765 |
| Figure(s): | Fig.2, 4 |
| Annotation description: | Fig.2: congenital myasthenic syndrome patient shows abnormal channel kinetics of motor endplate synapses. (The abnormal kinetic are traced back to a V249F mutation in the alpha1 subunit of the muscle type nAChR (Fig.3)) Fig.4: this effect on ch channel kinetics was confirmed recordings on heterologous expression of WT and V249F mutant receptors in HEK cells. |
| Evidence tracking, Biological System: | Intact tissue Non-neuronal tissue |
| Evidence tracking, Protein Targeting: | Genetic transformation (eg; knockout, knockin, mutations) Over-expression |
| Evidence tracking, Experiment Assay: | Whole-cell patch clamp |
| Annotator(s): | Pim van Nierop (ORCID:0000-0003-0593-3443) 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: | 1977 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |