Protein Musk

URN	urn:agi-llid:4593
Total Entities	0
Connectivity	86
Name	Musk
Description	muscle, skeletal, receptor tyrosine kinase
Notes	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]

Ariadne Ontology	Receptors
	Secreted proteins

GO Molecular Function	protein kinase binding
	PDZ domain binding
	nucleotide binding
	ATP binding
	transferase activity
	transferase activity, transferring phosphorus-containing groups
	kinase activity
	protein kinase activity
	protein tyrosine kinase activity
	transmembrane receptor protein tyrosine kinase activity

GO Cellular Component	cell junction
	membrane
	synapse
	external side of plasma membrane
	integral to plasma membrane
	integral to membrane
	plasma membrane
	cell projection
	postsynaptic membrane
	neuromuscular junction

GO Biological Process	positive regulation of synaptic transmission, cholinergic
	long-term synaptic potentiation
	signal transduction
	transmembrane receptor protein tyrosine kinase signaling pathway
	positive regulation of protein phosphorylation
	positive regulation of peptidyl-tyrosine phosphorylation
	positive regulation of protein geranylgeranylation
	regulation of transcription, DNA-dependent
	positive regulation of neuron apoptotic process
	positive regulation of synaptic growth at neuromuscular junction
	regulation of synaptic growth at neuromuscular junction
	cell differentiation
	protein phosphorylation
	protein autophosphorylation
	phosphorylation
	receptor clustering
	skeletal muscle acetylcholine-gated channel clustering
	response to axon injury
	memory
	response to electrical stimulus
	response to muscle activity
	negative regulation of gene expression
	positive regulation of gene expression
	multicellular organismal development
	retina development in camera-type eye
	cochlea development
	neuromuscular junction development

Pathway	acetylcholine signaling pathway via nicotinic acetylcholine receptor

Group	Receptors
	positive regulation of synaptic transmission, cholinergic
	long-term synaptic potentiation
	signal transduction
	transmembrane receptor protein tyrosine kinase signaling pathway
	positive regulation of protein phosphorylation
	positive regulation of peptidyl-tyrosine phosphorylation
	positive regulation of protein geranylgeranylation
	regulation of transcription, DNA-dependent
	positive regulation of neuron apoptotic process
	positive regulation of synaptic growth at neuromuscular junction
	regulation of synaptic growth at neuromuscular junction
	cell differentiation
	protein phosphorylation
	protein autophosphorylation
	phosphorylation
	receptor clustering
	skeletal muscle acetylcholine-gated channel clustering
	response to axon injury
	memory
	response to electrical stimulus
	response to muscle activity
	negative regulation of gene expression
	positive regulation of gene expression
	multicellular organismal development
	retina development in camera-type eye
	cochlea development
	neuromuscular junction development
	protein kinase binding
	PDZ domain binding
	nucleotide binding
	ATP binding
	transferase activity
	transferase activity, transferring phosphorus-containing groups
	kinase activity
	protein kinase activity
	protein tyrosine kinase activity
	transmembrane receptor protein tyrosine kinase activity
	cell junction
	membrane
	synapse
	external side of plasma membrane
	integral to plasma membrane
	integral to membrane
	plasma membrane
	cell projection
	postsynaptic membrane
	neuromuscular junction
	Secreted proteins

MedScan ID	4593

Hugo ID	7525

Human chromosome position	9q31.3-q32

Alias	RP11-104M22.1
	muscle, skeletal receptor tyrosine-protein kinase
	muscle-specific kinase receptor
	muscle-specific tyrosine-protein kinase receptor
	Mlk
	Mdk4
	Nsk1
	Nsk2
	Nsk3
	RP23-170A3.1
	muscle localized kinase 2
	muscle-specific protein kinase secretory isoform
	muscle-specific tyrosine protein kinase receptor
	muscle, skeletal receptor tyrosine protein kinase
	muscle-specific tyrosine kinase receptor MuSK
	muscle specific kinase (neural fold/somite kinase 1)
	neural fold/somite kinase 3
	Nsk I
	neural fold/somite kinase III
	neural fold/somite kinase I
	Receptor tyrosine kinase MuSK
	neural fold/somite kinase II
	OTTHUMP00000021899
	OTTHUMP00000021900
	OTTMUSP00000007947
	protein MUSK
	skeletal muscle receptor tyrosine kinase
	neural fold/somite kinase 2
	OTTMUSP00000007948
	neural fold/somite kinase 1
	LOC230243
	MGC117677
	MGC126324
	muscle specific kinase
	Muscle specific tyrosine kinase receptors
	Muscle specific tyrosine kinase receptor
	MUSK kinase
	MGC126323
	MUSK protein
	kinase MUSK
	MUSK
	muscle, skeletal, receptor tyrosine kinase

OMIM ID	601296
	608931

EC Number	2.7.10.1

PIR ID	I48696
	I48697

Mouse chromosome position	4 26.3 cM

Rat chromosome position	5q24

Homologene ID	4084

MGI ID	103581

RGD ID	3211

Primary Cell Localization	Plasma membrane