| Annotated protein: | Acetylcholine receptor subunit beta. Gene symbol: CHRNB1. Taxonomy: Homo sapiens (Human). Uniprot ID: P11230 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ CHRNB1 |
| 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: | Ohno K, et al. "Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit" Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):758-62 PMID:7531341 |
| Figure(s): | Table 1. Table 3. |
| Annotation description: | 1. Three patients with prolonged end plate currents and AChR channel opening episodes (Table 1). 2. Genetic analysis revealed heterozygous mutations: epsilon L269F and delta Q267E in Patient 1, beta V266M in Patient 2, and alpha N217K in Patient 3 that were not detected in 100 normal controls (Table 2) 3. Expression studies in HEK cells indicate that all of the mutations express normal amounts of AChR. epsilon L269F, beta V266M, and alpha N217K slow the rate of channel closure in the presence of ACh and increase apparent affinity for ACh; epsilon L269F and alpha N217K enhance desensitization, and epsilon L269F and beta V266M cause pathologic channel openings in the absence of ACh, rendering the channel leaky, delta Q267E has none of these effects and is therefore a rare polymorphism or a benign mutation. (Table 3) |
| 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: | 1979 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |