| Annotated protein: | Acetylcholine receptor subunit epsilon. Gene symbol: CHRNE. Taxonomy: Homo sapiens (Human). Uniprot ID: Q04844 |
| antibody wiki: | |
| SynGO gene info: | SynGO data @ CHRNE |
| 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): | Fig.1,4 |
| Annotation description: | Fig.1: congenital myasthenic syndrome patient shows abnormal channel kinetics of motor endplate synapses. (The abnormal kinetic are traced back to a eT264P mutation in the epsylon 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 eT264P 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: | 1978 |
| Dataset release (version): | 20231201 |
| View annotation as GO-CAM model: |  |