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Muscle, skeletal receptor tyrosine-protein kinase

Summary

UniProt ID

O15146

Gene Symbol

MUSK

Gene ID

4593

Organism

Homo sapiens (human)

External Links

GlyGen: O15146
PubChem: O15146
The Human Metabolome Database: HMDBP01361
RaftProt: O15146
Re-Glyco: O15146

Annotation

Keyword

3D-structure
ATP-binding
Alternative splicing
Cell membrane
Congenital myasthenic syndrome
Developmental protein
Differentiation
Disease variant
Disulfide bond
Glycoprotein
Immunoglobulin domain
Magnesium
Metal-binding
Muscle protein
Phosphoprotein
Postsynaptic cell membrane
Receptor
Reference proteome
Repeat
Signal
Transmembrane helix
Tyrosine-protein kinase
Ubl conjugation

Gene Ontology (GO)

Displaying **all 4** entries
GO Term
plasma membrane
neuromuscular junction
receptor complex
postsynaptic membrane

Subcellular Location(GO Annotation)

Subcellular in which this glycoprotein is expressed are highlighted in blue.

Displaying entries **1 - 10** of 12 in total

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GO Term
positive regulation of protein phosphorylation
transmembrane receptor protein tyrosine kinase signaling pathway
positive regulation of neuron projection development
protein autophosphorylation
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction
regulation of synaptic assembly at neuromuscular junction
skeletal muscle acetylcholine-gated channel clustering
positive regulation of protein geranylgeranylation
memory
positive regulation of gene expression

Displaying entries **1 - 10** of 23 in total

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GO Term
histone H2AXY142 kinase activity
macrophage colony-stimulating factor receptor activity
platelet-derived growth factor alpha-receptor activity
stem cell factor receptor activity
boss receptor activity
histone H3Y41 kinase activity
protein tyrosine kinase collagen receptor activity
brain-derived neurotrophic factor receptor activity
protein tyrosine kinase activity
transmembrane receptor protein tyrosine kinase activity

Annotation information from UniProt.

Sequence

MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPYEPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAYGDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERKFVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYTTESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWSKLPADRPSFTSIHRILERMCERAEGTVSV

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying **all 3** entries
Position	Description	Source
222	N-linked (GlcNAc...) asparagine	UniProt GlyGen
338	N-linked (GlcNAc...) asparagine	UniProt GlyGen
389		GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying 1 entry
Pathway Name	Organism
ECM proteoglycans	Homo sapiens

Disease

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0110670	congenital myasthenic syndrome 9	Alliance of Genome Resources
DOID:0111377	fetal akinesia deformation sequence syndrome 1	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

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Summary

External Links

Annotation

International Collaboration

Acknowledgements