MUSK Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation. Belongs to the protein kinase superfamily. Tyr protein kinase family. 3 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: EC 2.7.10.1; 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:  neuromuscular junction; plasma membrane; postsynaptic membrane; receptor complex
Molecular Function:  ATP binding; metal ion binding; protein binding; protein tyrosine kinase activity; transmembrane receptor protein tyrosine kinase activity; Wnt-protein binding
Biological Process:  cell differentiation; memory; multicellular organism development; neuromuscular junction development; positive regulation of ERK1 and ERK2 cascade; positive regulation of gene expression; positive regulation of kinase activity; positive regulation of neuron projection development; positive regulation of phosphatidylinositol 3-kinase signaling; positive regulation of protein geranylgeranylation; positive regulation of protein phosphorylation; protein autophosphorylation; regulation of synaptic assembly 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: CMS9; FADS; FADS1; MGC126323; MGC126324; muscle associated receptor tyrosine kinase; 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

MUSK

Protein Structure Not Found.


Cross-references to other databases:  AlphaFold  |  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  KinBase  |  Pfam  |  RCSB PDB  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein