Annotated protein:Glycine receptor subunit alpha-1 (Glycine receptor 48 kDa subunit) (Glycine receptor strychnine-binding subunit). Gene symbol: GLRA1. Taxonomy: Mus musculus (Mouse). Uniprot ID: Q64018
antibody wiki:
SynGO gene info:SynGO data @ GLRA1
Ontology domain:Biological Process
SynGO term:transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential (GO:1904315)
Synapse type(s):medulla, glycinergic
Annotated paper:Schaefer N, et al. "Disruption of a Structurally Important Extracellular Element in the Glycine Receptor Leads to Decreased Synaptic Integration and Signaling Resulting in Severe Startle Disease" J Neurosci. 2017 Aug 16;37(33):7948-7961 PMID:28724750
Figure(s):Fig.6
Annotation description:Shaky mice have spontaneous mutation of the GLRA1 coding sequence. The Shaky GLRA1 has defective trafficking to postsynapses and displays problems with glycinergic (blocked by strychnine in WT animals) postsynaptic responses in PreBötC neurons.
Evidence tracking, Biological System:Intact tissue
Evidence tracking, Protein Targeting:Genetic transformation (eg; knockout, knockin, mutations)
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
Additional literature:The spasmodic and oscillator mice also have mutations in GLRA1 gene resulting in perturbed glycinergic IPSCs. @ PMID:16672662
SynGO annotation ID:2027
Dataset release (version):20231201
View annotation as GO-CAM model:Gene Ontology