MUSK Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | MUSK |
| Official Name | muscle associated receptor tyrosine kinase [Source:HGNC Symbol;Acc:HGNC:7525] |
| Ensembl ID | ENSG00000030304 |
| Bio databases IDs | |
| Aliases | muscle associated receptor tyrosine kinase |
| Synonyms | CMS9, FADS, FADS1, Mdk4, Mlk, muscle associated receptor tyrosine kinase, muscle, skeletal, receptor tyrosine kinase, Nsk1, Nsk2, Nsk3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MUSK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Fz domain
- protein-tyrosine kinase
- Protein kinase domain
- CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
- cytoplasmic domain
- Immunoglobulin like
- intracellular domain
- membrane-proximal domain
- Tyrosine kinase, catalytic domain
- Immunoglobulin V-set domain
- transmembrane receptor
- extracellular domain
- Protein kinase (unclassified specificity)
- protein kinase binding
- Protein tyrosine and serine/threonine kinase
- immunoglobulin domain
- ectodomain
- Immunoglobulin I-set domain
- protein binding
- PDZ-domain binding
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- Protein Kinases, catalytic domain
- transmembrane receptor protein tyrosine kinase
- transmembrane domain
- PDZ binding motif
Pathways
Biological processes and signaling networks where the MUSK gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- congenital myasthenic syndrome associated with acetylcholine receptor deficiency type 9
- pena-shokeir syndrome type I
- cyanosis
- cleft palate with cleft lip
- congenital myasthenic syndrome associated with acetylcholine receptor deficiency type 4C
- muscle weakness
- dementia
- lack of spontaneous movement
- fatigue
- respiratory failure
role in cell
- apoptosis
- growth
- survival
- morphology
- quantity
- proliferation
- formation
- branching
- development
- dismantling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- detergent resistant lipid raft fraction
- cell surface
- cellular membrane
- plasma membrane extracellular face
- postsynaptic membrane
- neuromuscular junctions
- nerve ending
- synapse
- cellular protrusions
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MUSK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organismal development
- regulation of synaptic growth at neuromuscular junction
- protein autophosphorylation
- transmembrane receptor protein tyrosine kinase signaling pathway
- memory
- neuromuscular junction development
- skeletal muscle acetylcholine-gated channel clustering
- positive regulation of gene expression
- positive regulation of protein phosphorylation
- positive regulation of ERK1 and ERK2 cascade
- cell differentiation
- positive regulation of neuron projection development
- positive regulation of kinase activity
- positive regulation of protein kinase B signaling cascade
- positive regulation of protein geranylgeranylation
Cellular Component
Where in the cell the gene product is active
- postsynaptic membrane
- neuromuscular junction
- receptor complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein tyrosine kinase activity
- protein binding
- metal ion binding
- transmembrane receptor protein tyrosine kinase activity
- Wnt-protein binding