muscle, skeletal, receptor tyrosine kinase

Symbol

MUSK (may also be known as: None)

Organism

Human

Description

This gene encodes a muscle-specific tyrosine kinase receptor. The encoded protein may play a role in clustering of the acetylcholine receptor in the postsynaptic neuromuscular junction. Mutations in this gene have been associated with congenital myasthenic syndrome. Alternatively spliced transcript variants have been described.[provided by RefSeq, Oct 2009]

Orthologs

SymbolSpecies
trk-1 Caenorhabditis elegans
Nrk Drosophila melanogaster
musk Danio rerio
Musk Mus musculus
Musk Rattus norvegicus

Links to external resources

Changes associated with this gene

Identifier Name Type Tissues Organism Gene Data Actions
DAA2815 Gene expression of MUSK decreases with age Molecular adipose tissue Human MUSK —

GO Terms

GO IDGO TermGO Category
GO:0001934 positive regulation of protein phosphorylation biological_process
GO:0006355 regulation of transcription, DNA-dependent biological_process
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway biological_process
GO:0007275 multicellular organismal development biological_process
GO:0007528 neuromuscular junction development biological_process
GO:0007613 memory biological_process
GO:0008582 regulation of synaptic growth at neuromuscular junction biological_process
GO:0010628 positive regulation of gene expression biological_process
GO:0030154 cell differentiation biological_process
GO:0043525 positive regulation of neuron apoptosis biological_process
GO:0046777 protein autophosphorylation biological_process
GO:0071340 skeletal muscle acetylcholine-gated channel clustering biological_process
GO:2000541 positive regulation of protein geranylgeranylation biological_process
GO:0005886 plasma membrane cellular_component
GO:0005887 integral to plasma membrane cellular_component
GO:0016020 membrane cellular_component
GO:0016021 integral to membrane cellular_component
GO:0030054 cell junction cellular_component
GO:0031594 neuromuscular junction cellular_component
GO:0045211 postsynaptic membrane cellular_component
GO:0000166 nucleotide binding molecular_function
GO:0004672 protein kinase activity molecular_function
GO:0004713 protein tyrosine kinase activity molecular_function
GO:0004714 transmembrane receptor protein tyrosine kinase activity molecular_function
GO:0004872 receptor activity molecular_function
GO:0005524 ATP binding molecular_function
GO:0016301 kinase activity molecular_function
GO:0016772 transferase activity, transferring phosphorus-containing groups molecular_function
GO:0030165 PDZ domain binding molecular_function