| Gene Symbol |
MUSK
|
| Entrez Gene |
4593
|
| Alt Symbol |
-
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
muscle, skeletal, receptor tyrosine kinase
|
| Other Description |
muscle, skeletal receptor tyrosine-protein kinase|muscle-specific kinase receptor|muscle-specific tyrosine-protein kinase receptor
|
| Swissprots |
O15146 Q5VZW7 Q32MJ8 Q32MJ9 Q5VZW8
|
| Accessions |
EAW59065 EAW59066 EAW59067 O15146 AA448972 AF006464 AAB63044 BC109098 AAI09099 BC109099 AAI09100 BG825304 EU832778 ACE87789 EU832779 ACE87790 GQ129313 ACT64447 Z25436 CAA80923 XM_005251994 XP_005252051 XM_005251995 XP_005252052 XM_005251996 XP_005252053 XM_011518707 XP_011517009 XM_011518708 XP_011517010 NM_001166280 NP_001159752 NM_001166281 NP_001159753 NM_005592 NP_005583
|
| Function |
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 prenylati
|
| Subcellular Location |
Cell junction, synapse, postsynaptic cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Localizes to the postsynaptic cell membrane of the neuromuscular junction. {ECO:0000305}.
|