Protein Description

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

No tissues found.

No databases found.

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