MUSK [The Human Chemical-Genetic Interaction Map Project]

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======= MUSK =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MUSK
  * **<color #00a2e8>Official Name</color>**: muscle associated receptor tyrosine kinase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4593|4593]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O15146|O15146]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MUSK&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MUSK|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/601296|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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 (PubMed:25537362). 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). {ECO:0000250, ECO:0000269|PubMed:25537362}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Pkinase|
|V-set|
|Pkinase Tyr|
|ig|
|Fz|
|I-set|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of protein geranylgeranylation|
|regulation of protein geranylgeranylation|
|regulation of synaptic growth at neuromuscular junction|
|skeletal muscle acetylcholine-gated channel clustering|
|regulation of neuromuscular junction development|
|postsynaptic membrane organization|
|Wnt-protein binding|
|neuromuscular junction development|
|receptor clustering|
|transmembrane receptor protein tyrosine kinase activity|
|neuromuscular junction|
|localization within membrane|
|postsynapse organization|
|protein tyrosine kinase activity|
|regulation of synapse assembly|
|memory|
|peptidyl-tyrosine phosphorylation|
|peptidyl-tyrosine modification|
|protein autophosphorylation|
|postsynaptic membrane|
|receptor complex|
|regulation of synapse organization|
|regulation of synapse structure or activity|
|learning or memory|
|synapse organization|
|cognition|
|regulation of developmental growth|
|protein localization to membrane|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|cell junction|
|behavior|
|regulation of growth|
|enzyme linked receptor protein signaling pathway|
|membrane organization|
|peptidyl-amino acid modification|
|regulation of nervous system development|
|regulation of cellular component biogenesis|
|protein phosphorylation|
|positive regulation of protein phosphorylation|
|positive regulation of phosphorylation|
|positive regulation of phosphate metabolic process|
|positive regulation of phosphorus metabolic process|
|positive regulation of protein modification process|
|phosphorylation|
|nervous system process|
|integral component of plasma membrane|
|regulation of protein phosphorylation|
|ATP binding|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|positive regulation of cellular protein metabolic process|
|positive regulation of protein metabolic process|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|regulation of protein modification process|
|system process|
|positive regulation of gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 16401
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.13 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MUSK Expression in NALM6 Cells: -3.13'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>