Muscle, Skeletal Receptor Tyrosine-Protein Kinase

Preferred Label : Muscle, Skeletal Receptor Tyrosine-Protein Kinase;

NCIt synonyms : Receptor Tyrosine Kinase MuSK; Muscle, Skeletal, Receptor Tyrosine Kinase; Muscle-Specific Tyrosine-Protein Kinase Receptor; Muscle-Specific Kinase Receptor; EC 2.7.10.1;

NCIt related terms : MUSCLE-SPECIFIC KINASE; MuSK; Muscle Specific Receptor Tyrosine Kinase;

NCIt definition : Muscle, skeletal receptor tyrosine-protein kinase (869 aa, 97 kDa) is encoded by the human MUSK gene. This protein is involved in receptor signaling, tyrosine phosphorylation and both the development and maintenance of the postsynaptic side of the neuromuscular junction.;

Alternative definition : CDISC: An antigen encoded by the MUSK gene and is involved in receptor signaling, tyrosine phosphorylation and both the development and maintenance of the postsynaptic side of the neuromuscular junction. It can be considered as an autoantigen and is commonly associated with autoimmune disease myasthenia gravis.;

Details

Origin ID

C28528;

UMLS CUI

C0381678;

OMIM relation
- Muscle, skeletal, receptor tyrosine kinase [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
- Receptor [UMLS semantic type]
UMLS correspondences (same concept)
- MUSK protein, human [MeSH concept]
- MUSK protein, human [MeSH Supplementary Concept]
concept_is_in_subset
- CDISC SDTM Binding Agent for Immunogenicity Tests Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
gene_encodes_gene_product
- Enzyme Gene [NCIt concept]
- Kinase Family Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
- MUSK Gene [NCIt concept]
- Phosphotransferase Gene [NCIt concept]
- Receptor Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]
- Transferase Gene [NCIt concept]
gene_product_has_associated_anatomy
- Plasma Membrane [NCIt concept]
- Postsynaptic Membrane [NCIt concept]
gene_product_has_biochemical_function
- Cell Surface Receptor [NCIt concept]
- Kinase [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Cytoplasmic Domain [NCIt concept]
- Extracellular Domain [NCIt concept]
- Frizzled Domain [NCIt concept]
- Immunoglobulin-Like C2-Type Domain [NCIt concept]
- Ligand Binding Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
- Tyrosine Kinase Domain [NCIt concept]
gene_product_is_element_in_pathway
- Agrin Pathway [NCIt concept]
- Regulation of Apoptosis Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Ligand Binding [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Protein Phosphorylation Process [NCIt concept]
- Receptor Signaling [NCIt concept]
- Signal Transduction [NCIt concept]
- Tyrosine Phosphorylation [NCIt concept]
is_target
- Autologous MuSK-CD3z/4-1BB-expressing Chimeric Autoantibody Receptor T-cells MuSK-CAART [NCIt concept]

Keyword's position in hierarchy(ies) :

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