MUSK

Description		muscle associated receptor tyrosine kinase
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GO Annotations	Cellular Component	Plasma Membrane Membrane Neuromuscular Junction Receptor Complex Synapse Postsynaptic Membrane
	Molecular Function	Nucleotide Binding Protein Kinase Activity Protein Tyrosine Kinase Activity Transmembrane Receptor Protein Tyrosine Kinase Activity Protein Binding ATP Binding Kinase Activity Transferase Activity Wnt-protein Binding Metal Ion Binding
	Biological Process	Positive Regulation Of Protein Phosphorylation Cell Surface Receptor Protein Tyrosine Kinase Signaling Pathway Neuromuscular Junction Development Memory Regulation Of Synaptic Assembly At Neuromuscular Junction Positive Regulation Of Macromolecule Metabolic Process Positive Regulation Of Gene Expression Cell Differentiation Skeletal Muscle Acetylcholine-gated Channel Clustering Positive Regulation Of Protein Geranylgeranylation
Pathways		ECM proteoglycans
Drugs		Fostamatinib
Diseases		Congenital myasthenic syndrome
GWAS		Body mass index ( 28552196) Heel bone mineral density ( 30598549) Metabolite levels ( 23823483) Orofacial cleft x maternal periconceptional smoking interaction (1df) ( 33937227) Plasma factor V levels in venous thrombosis (conditioned on rs6027) ( 31271701) Pulmonary function decline ( 22424883) Type 2 diabetes (dietary heme iron intake interaction) ( 23386860)
Interacting Genes		7 interacting genes: COLQ DOK7 ERBIN ILKAP RAPSN STYX SYNE1
Entrez ID		4593
HPRD ID		03190
Ensembl ID		ENSG00000030304
Uniprot IDs		A0A087WSY1 O15146
PDB IDs		8S9P
Enriched GO Terms of Interacting Partners?		Neuromuscular Junction Receptor Clustering Skeletal Muscle Acetylcholine-gated Channel Clustering Neuromuscular Junction Development Postsynaptic Membrane Protein Localization To Membrane Regulation Of Postsynaptic Membrane Neurotransmitter Receptor Levels Negative Regulation Of SCF-dependent Proteasomal Ubiquitin-dependent Catabolic Process Structural Constituent Of Postsynaptic Specialization Positive Regulation Of Motor Neuron Apoptotic Process Pseudophosphatase Activity Acetylcholine Catabolic Process In Synaptic Cleft Basement Membrane Basal Protein Localization Localization Within Membrane Positive Regulation Of Neuromuscular Synaptic Transmission F-box Domain Binding Acetylcholine Catabolic Process Nuclear Matrix Anchoring At Nuclear Membrane ErbB-2 Class Receptor Binding Regulation Of Postsynaptic Membrane Organization Nuclear Matrix Organization Negative Regulation Of Nucleotide-binding Oligomerization Domain Containing 2 Signaling Pathway Cytoskeleton-nuclear Membrane Anchor Activity Negative Regulation Of Monocyte Chemotactic Protein-1 Production Cell Junction Establishment Of Protein Localization To Membrane Intracellular Protein Localization Hemidesmosome Positive Regulation Of Skeletal Muscle Acetylcholine-gated Channel Clustering Regulation Of Skeletal Muscle Acetylcholine-gated Channel Clustering Positive Regulation Of Protein Tyrosine Kinase Activity Maintenance Of Postsynaptic Specialization Structure Regulation Of Synaptic Assembly At Neuromuscular Junction Meiotic Nuclear Membrane Microtubule Tethering Complex Establishment Of Protein Localization To Postsynaptic Membrane Synapse Organization Postsynaptic Specialization Synapse Nuclear Membrane Positive Regulation Of Receptor Clustering Acetylcholine Receptor Binding Regulation Of Motor Neuron Apoptotic Process Motor Neuron Apoptotic Process Regulation Of Nucleotide-binding Domain, Leucine Rich Repeat Containing Receptor Signaling Pathway Cation Binding Lamin Binding Regulation Of Receptor Clustering Positive Regulation Of Rac Protein Signal Transduction Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane
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