InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: MUSK

Summary

InnateDB Gene

IDBG-80516.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

MUSK

Gene Name

muscle, skeletal, receptor tyrosine kinase

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000030304

Encoded Proteins

IDBP-80518

muscle, skeletal, receptor tyrosine kinase

IDBP-80522

muscle, skeletal, receptor tyrosine kinase

IDBP-80526

muscle, skeletal, receptor tyrosine kinase

IDBP-80528

muscle, skeletal, receptor tyrosine kinase

IDBP-80530

muscle, skeletal, receptor tyrosine kinase

IDBP-377697

muscle, skeletal, receptor tyrosine kinase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 9:110668771-110801579

Strand

Forward strand

Band

q31.3

Transcripts

ENST00000374448	ENSP00000363571
ENST00000189978	ENSP00000189978
ENST00000374440	ENSP00000363563
ENST00000374439	ENSP00000363562
ENST00000374438	ENSP00000363561
ENST00000416899	ENSP00000393608

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 9 experimentally validated interaction(s) in this database.
They are also associated with 5 interaction(s) predicted by orthology.

Experimentally validated
Total	9 [view]
Protein-Protein	9 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004672	protein kinase activity
GO:0004713	protein tyrosine kinase activity
GO:0004714	transmembrane receptor protein tyrosine kinase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016772	transferase activity, transferring phosphorus-containing groups
GO:0030165	PDZ domain binding

Biological Process

GO:0001934	positive regulation of protein phosphorylation
GO:0006355	regulation of transcription, DNA-templated
GO:0006468	protein phosphorylation
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007275	multicellular organismal development
GO:0007528	neuromuscular junction development
GO:0007613	memory
GO:0008582	regulation of synaptic growth at neuromuscular junction
GO:0010628	positive regulation of gene expression
GO:0018108	peptidyl-tyrosine phosphorylation
GO:0030154	cell differentiation
GO:0030198	extracellular matrix organization
GO:0043113	receptor clustering
GO:0043525	positive regulation of neuron apoptotic process
GO:0046777	protein autophosphorylation
GO:0071340	skeletal muscle acetylcholine-gated channel clustering
GO:2000541	positive regulation of protein geranylgeranylation

Cellular Component

GO:0005886	plasma membrane
GO:0005887	integral component of plasma membrane
GO:0030054	cell junction
GO:0031594	neuromuscular junction
GO:0043235	receptor complex
GO:0045211	postsynaptic membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000057280

View Gene Order

ENSBTAG00000002744

Not yet available

Pathways

NETPATH

REACTOME

REACT_118779

Extracellular matrix organization pathway

REACT_163906

ECM proteoglycans pathway

KEGG

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.521653

RefSeq

NM_001166280 NM_001166281 NM_005592 XM_005251996

HUGO

OMIM

CCDS

CCDS48005 CCDS75874

HPRD

03190

IMGT

EMBL

GenPept

RNA Seq Atlas