Annotated protein:Muskelin. Gene symbol: MKLN1. Taxonomy: Mus musculus (Mouse). Uniprot ID: O89050
antibody wiki:
SynGO gene info:SynGO data @ MKLN1
Ontology domain:Biological Process
SynGO term:neurotransmitter receptor transport postsynaptic membrane to endosome (GO:0098968)
Synapse type(s):hippocampus, GABAergic
Annotated paper:Heisler FF, et al. "Muskelin regulates actin filament- and microtubule-based GABA(A) receptor transport in neurons" Neuron. 2011 Apr 14;70(1):66-81 PMID:21482357
Figure(s):Figure 1-7
Annotation description:Figure 1: muskelin (MKLN1) is partially localized to the postsynaptic sites of inhibitory synapses (but also at e.g. nonsynaptic intracellular vesicles) and can interact with GABAARα1 (GABRA1).

Figure 3: Muskelin depletion causes increased GABAARα1 surface levels with accumulation at extrasynaptic sites.

Figure 4: Muskelin-myosinVI (MYO6) interactions facilitate F-actin dependent GABAARα1 internalization in WT but not in muskelin and myosinVI mutant mice.

Figure 6: Dynein-driven, retrograde transport complex containing muskelin and GABAAR α1.

Figure 7: Muskelin is co-localized with GABAARα1 at (late) endosomes and facilitates degradation of GABAARα1.

Authors summarize:
"our data demonstrate that muskelin acts as a dual component with common functions in two subsequent internalization and degradation steps involving different cytoskeletal elements and motor proteins (Figure 8)."
Evidence tracking, Biological System:Cultured neurons
Intact tissue
Evidence tracking, Protein Targeting:Over-expression
Antibody (detection)
Genetic transformation (eg; knockout, knockin, mutations)
Evidence tracking, Experiment Assay:Electron Microscopy
Western blot
Biochemical fractionation (generic)
IP + WB/MSMS
Y2H
Confocal
Annotator(s):Frank Koopmans (ORCID:0000-0002-4973-5732)
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:5096
Dataset release (version):20231201
View annotation as GO-CAM model:Gene Ontology