MUSK report

I. Expression across cell types

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of MUSK at tissue level.

III. Associated gene sets

GO_0071340Biological processskeletal muscle acetylcholine-gated channel clustering
GO_2000541Biological processpositive regulation of protein geranylgeranylation
GO_0007169Biological processcell surface receptor protein tyrosine kinase signaling pathway
GO_0010976Biological processpositive regulation of neuron projection development
GO_0010628Biological processpositive regulation of gene expression
GO_0007275Biological processmulticellular organism development
GO_0001934Biological processpositive regulation of protein phosphorylation
GO_0007528Biological processneuromuscular junction development
GO_0033674Biological processpositive regulation of kinase activity
GO_0030154Biological processcell differentiation
GO_0007613Biological processmemory
GO_0051897Biological processpositive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
GO_0046777Biological processprotein autophosphorylation
GO_0008582Biological processregulation of synaptic assembly at neuromuscular junction
GO_0070374Biological processpositive regulation of ERK1 and ERK2 cascade
GO_0043235Cellular componentreceptor complex
GO_0005886Cellular componentplasma membrane
GO_0031594Cellular componentneuromuscular junction
GO_0045211Cellular componentpostsynaptic membrane
GO_0017147Molecular functionWnt-protein binding
GO_0004713Molecular functionprotein tyrosine kinase activity
GO_0004714Molecular functiontransmembrane receptor protein tyrosine kinase activity
GO_0046872Molecular functionmetal ion binding
GO_0005524Molecular functionATP binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameMUSK
Protein namereceptor protein-tyrosine kinase (EC 2.7.10.1)
Muscle associated receptor tyrosine kinase
Muscle, skeletal receptor tyrosine-protein kinase (EC 2.7.10.1) (Muscle-specific tyrosine-protein kinase receptor) (MuSK) (Muscle-specific kinase receptor)
Synonyms
DescriptionFUNCTION: 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 (By similarity). .

AccessionsENST00000416899.7
O15146
ENST00000374439.1
F6XAJ2
A0A087WSY1
ENST00000189978.10 [O15146-2]
ENST00000374448.9 [O15146-1]