MUSK a receptor tyrosine kinase that is essential for the establishment and maintenance of the neuromuscular junction (NMJ). Its activation by agrin, a neuronally derived heparan-sulfate proteoglycan, and the agrin receptor (LRP4), leads to clustering of acetylcholine receptors on the postsynaptic side of the NMJ. Its activation by agrin requires Dok7, which interacts with the cytoplasmic portion of MuSK and activates its tyrosine kinase activity. Note: This description may include information from UniProtKB.
Protein type: EC; Kinase, protein; Membrane protein, integral; Musk family; Protein kinase, TK; Protein kinase, tyrosine (receptor); TK group
Chromosomal Location of Human Ortholog: 9q31.3
Cellular Component:  cell junction; cytoplasm; integral component of plasma membrane; neuromuscular junction; postsynaptic membrane; receptor complex
Molecular Function:  ATP binding; MAP kinase kinase kinase activity; metal ion binding; mitogen-activated protein kinase kinase binding; protein binding; protein tyrosine kinase activity; transmembrane receptor activity; transmembrane receptor protein tyrosine kinase activity; Wnt-protein binding
Biological Process:  cell differentiation; memory; multicellular organism development; negative regulation of apoptosis; negative regulation of signal transduction; neuromuscular junction development; peptidyl-tyrosine phosphorylation; positive regulation of ERK1 and ERK2 cascade; positive regulation of gene expression; positive regulation of kinase activity; positive regulation of protein geranylgeranylation; positive regulation of protein phosphorylation; protein autophosphorylation; regulation of synaptic growth at neuromuscular junction; skeletal muscle acetylcholine-gated channel clustering; transmembrane receptor protein tyrosine kinase signaling pathway
Disease: Fetal Akinesia Deformation Sequence; Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Reference #:  O15146 (UniProtKB)
Alt. Names/Synonyms: MGC126323; MGC126324; Muscle, skeletal receptor tyrosine-protein kinase; muscle, skeletal, receptor tyrosine kinase; Muscle-specific kinase receptor; Muscle-specific tyrosine-protein kinase receptor; MUSK
Gene Symbols: MUSK
Molecular weight: 97,056 Da
Basal Isoelectric point: 6.96  Predict pI for various phosphorylation states
CST Pathways:  Tyrosine Kinases & Substrates
Select Structure to View Below


Protein Structure Not Found.

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