Gene Symbol | MUSK |
Entrez ID | 4593 |
Uniprot ID | O15146 |
Description | muscle, skeletal, receptor tyrosine kinase |
Chromosomal Location | chr9: 110,668,771-110,801,620 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0001934 |
positive regulation of protein phosphorylation |
Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
IMP|ISS |
BP |
GO:0007169 |
transmembrane receptor protein tyrosine kinase signaling pathway |
A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with regulation of a downstream cellular process, e.g. transcription. |
TAS |
BP |
GO:0007275 |
multicellular organism development |
The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). |
IEA |
BP |
GO:0007528 |
neuromuscular junction development |
A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. |
IDA|ISS |
BP |
GO:0007613 |
memory |
The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). |
ISS |
BP |
GO:0008582 |
regulation of synaptic growth at neuromuscular junction |
Any process that modulates the frequency, rate or extent of synaptic growth at neuromuscular junctions. |
ISS |
BP |
GO:0010628 |
positive regulation of gene expression |
Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. |
ISS |
BP |
GO:0018108 |
peptidyl-tyrosine phosphorylation |
The phosphorylation of peptidyl-tyrosine to form peptidyl-O4'-phospho-L-tyrosine. |
IEA |
BP |
GO:0030154 |
cell differentiation |
The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
IEA |
BP |
GO:0046777 |
protein autophosphorylation |
The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
ISS |
BP |
GO:0071340 |
skeletal muscle acetylcholine-gated channel clustering |
The accumulation of acetylcholine-gated cation channels in a narrow, central region of muscle fibers, in apposition to nerve terminals. |
ISS |
BP |
GO:2000541 |
positive regulation of protein geranylgeranylation |
Any process that activates or increases the frequency, rate or extent of protein geranylgeranylation. |
ISS |
CC |
GO:0005887 |
integral component of plasma membrane |
The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
ISS |
CC |
GO:0030054 |
cell junction |
A cellular component that forms a specialized region of connection between two or more cells or between a cell and the extracellular matrix. At a cell junction, anchoring proteins extend through the plasma membrane to link cytoskeletal proteins in one cell to cytoskeletal proteins in neighboring cells or to proteins in the extracellular matrix. |
IEA |
CC |
GO:0031594 |
neuromuscular junction |
The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
ISS |
CC |
GO:0043235 |
receptor complex |
Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
IDA |
CC |
GO:0045211 |
postsynaptic membrane |
A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
ISS |
MF |
GO:0004713 |
protein tyrosine kinase activity |
Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
ISS |
MF |
GO:0004714 |
transmembrane receptor protein tyrosine kinase activity |
Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: ATP + a protein-L-tyrosine = ADP + a protein-L-tyrosine phosphate. |
IEA |
MF |
GO:0005524 |
ATP binding |
Interacting selectively and non-covalently with ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
IEA |
MF |
GO:0046872 |
metal ion binding |
Interacting selectively and non-covalently with any metal ion. |
IEA |
Domain ID | Description |
---|---|
IPR000719 |
Protein kinase domain |
IPR001245 |
Serine-threonine/tyrosine-protein kinase, catalytic domain |
IPR003598 |
Immunoglobulin subtype 2 |
IPR003599 |
Immunoglobulin subtype |
IPR007110 |
Immunoglobulin-like domain |
IPR008266 |
Tyrosine-protein kinase, active site |
IPR011009 |
Protein kinase-like domain |
IPR013098 |
Immunoglobulin I-set |
IPR013783 |
Immunoglobulin-like fold |
IPR017441 |
Protein kinase, ATP binding site |
IPR020067 |
Frizzled domain |
IPR020635 |
Tyrosine-protein kinase, catalytic domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
h_agrPathway |
Agrin in Postsynaptic Differentiation |
BioCarta |
h_achPathway |
Role of nicotinic acetylcholine receptors in the regulation of apoptosis |
BioCarta |
UMLS CUI | UMLS Term |
---|---|
C0026896 |
Myasthenia Gravis |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22789864 |
Yan et al. |
2012 |
Expression of apoptosis-related genes in the endometrium of polycystic ovary syndrome patients during the window of implantation |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
FKBP5 |
2289 |
Q13451 |
0.49 |
CDC37 |
11140 |
Q16543 |
0.49 |
HSP90AB1 |
3326 |
P08238 |
0.63 |
RAPSN |
5913 |
Q13702 |
0.68 |
COLQ |
8292 |
Q9Y215 |
0.52 |
DOK7 |
285489 |
Q18PE1 |
0.62 |
NEDD8 |
4738 |
Q15843 |
0.63 |
PDZRN3 |
23024 |
Q9UPQ7 |
0.72 |
HSP90AA1 |
3320 |
P07900 |
0.73 |
SYNE1 |
23345 |
Q8NF91 |
0.77 |