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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MUSK Gene

protein-coding GIFtS: 66
GCID: GC09P113431

muscle, skeletal, receptor tyrosine kinase

Explore 21 diseases affiliated with
MUSK via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Muscle, Skeletal, Receptor Tyrosine Kinase¹ ²		Muscle, Skeletal Receptor Tyrosine-Protein Kinase²
Muscle-Specific Kinase Receptor² ³		MuSK³
Muscle-Specific Tyrosine-Protein Kinase Receptor² ³		EC 2.7.10⁸
EC 2.7.10.1³ ⁸

External Ids:	HGNC: 7525¹	Entrez Gene: 4593²	Ensembl: ENSG00000030304⁷	OMIM: 601296⁵	UniProtKB: O15146³

Export aliases for MUSK gene to outside databases

Previous GC identifers: GC09P104229 GC09P105163 GC09P106888 GC09P108810 GC09P110510 GC09P112470 GC09P083032

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MUSK:

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)

UniProtKB/Swiss-Prot: MUSK_HUMAN, O15146

Function: Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular

junction (NMJ), the synapse between the motor neuron and the skeletal muscle. Recruitment of AGRIN by LRP4 to the MUSK

signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in

myotubes regulates the formation of NMJs through the regulation of different processes including the specific

expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the

acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through

activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with

MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases

through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation

of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include

DNAJA3 which functions downstream of MUSK. May also play a role within the central nervous system by mediating

cholinergic responses, synaptic plasticity and memory formation (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MUSK gene promoter:
C/EBPbeta Nkx2-5 HNF-3beta POU3F2 LCR-F1 Cdc5 CREB Ik-2 deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MUSK promoter sequence

Search SABiosciences Chromatin IP Primers for MUSK

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MUSK

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q31.3-q32 Ensembl cytogenetic band: 9q31.3 HGNC cytogenetic band: 9q31.3-q32

MUSK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MUSK gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09P113431: view genomic region (about GC identifiers)

Start:	113,431,051 bp from pter	End:	113,563,859 bp from pter
Size:	132,809 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MUSK_HUMAN, O15146 (See protein sequence)

Recommended Name: Muscle, skeletal receptor tyrosine-protein kinase precursor

Size: 869 amino acids; 97056 Da

Subunit: Monomer (By similarity). Homodimer (Probable). Interacts with LRP4; the heterodimer forms an AGRIN receptor

complex that binds AGRIN resulting in activation of MUSK (By similarity). Forms a heterotetramer composed of 2 DOK7

and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation. Interacts

(via cytoplasmic part) with DOK7 (via IRS-type PTB domain); requires MUSK phosphorylation. Interacts with DVL1 (via

DEP domain); the interaction is direct and mediates the formation of a DVL1, MUSK and PAK1 ternary complex involved in

AChR clustering (By similarity). Interacts with PDZRN3; this interaction is enhanced by agrin (By similarity).

Interacts with FNTA; the interaction is direct and mediates AGRIN-induced phosphorylation and activation of FNTA (By

similarity). Interacts with CSNK2B; mediates regulation by CK2 (By similarity). Interacts (via the cytoplasmic domain)

with DNAJA3 (By similarity). Interacts with NSF; may regulate MUSK endocytosis and activity (By similarity). Interacts

with CAV3; may regulate MUSK signaling (By similarity). Interacts with RNF31 (By similarity)

Subcellular location: Cell junction, synapse, postsynaptic cell membrane; Single-pass type I membrane protein

(Probable). Note=Localizes to the postsynaptic cell membrane of the neuromuscular junction (Probable)

Sequence caution: Sequence=CAH69977.1; Type=Erroneous gene model prediction; Sequence=CAH69978.1; Type=Erroneous gene

model prediction; Sequence=CAI17349.1; Type=Erroneous gene model prediction; Sequence=CAI17350.1; Type=Erroneous gene

model prediction;

Secondary accessions: Q32MJ8 Q32MJ9 Q5VZW7 Q5VZW8

Alternative splicing: 3 isoforms: O15146-1 O15146-2 O15146-3

Explore the universe of human proteins at neXtProt for MUSK: NX_O15146

Post-translational modifications:

Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity)¹

Phosphorylated. Phosphorylation is induced by AGRIN. Autophosphorylation at Tyr-554 is required for interaction with

DOK7 which in turn stimulates the phosphorylation and the activation of MUSK¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15146

4/21 DME Specific Peptides for MUSK (O15146) (see all 21)

GVVLWEI

VAVKMLK

PKITRPP

FVHRDLA

MUSK Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001159752.1 NP_001159753.1 NP_005583.1

ENSEMBL proteins:

ENSP00000189978 ENSP00000393608 ENSP00000363562 ENSP00000363561 ENSP00000363571

ENSP00000363563

Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant MUSK Protein
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates OriGene Custom Protein Services for MUSK
	GenScript Custom Purified and Recombinant Proteins Services for MUSK
	Novus Biologicals MUSK Proteins Novus Biologicals MUSK Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MUSK

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	--	--
GO:0005887	integral to plasma membrane	ISS	--
GO:0030054	cell junction	IEA	--
GO:0031594	neuromuscular junction	ISS	--
GO:0045211	postsynaptic membrane	ISS	--

MUSK for ontologies About GeneDecksing

MUSK Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	R&D Systems Antibodies for MUSK
	Browse OriGene Antibodies OriGene Custom Antibody Services for MUSK
	GenScript Custom Superior Antibodies Services for MUSK
	Novus Biologicals MUSK Antibodies
	Abcam antibodies for MUSK
	Uscn Antibodies for MUSK
	ThermoFisher Antibodies for MUSK

Assay Products for MUSK:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems Multiplex/Array Assay Kits & Reagents for MUSK
	GenScript Custom Assay Services for MUSK
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for MUSK

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MUSK for domains About GeneDecksing

5/11 InterPro domains/families (see all 11):

IPR003598 Ig_sub2

IPR007110 Ig-like_dom

IPR017441 Protein_kinase_ATP_BS

IPR001245 Ser-Thr/Tyr_kinase_cat_dom

IPR013098 Ig_I-set

Graphical View of Domain Structure for InterPro Entry O15146

ProtoNet protein and cluster: O15146

1 Blocks protein family: IPB008266 Tyrosine protein kinase

UniProtKB/Swiss-Prot: MUSK_HUMAN, O15146

Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family

Similarity: Contains 1 FZ (frizzled) domain

Similarity: Contains 3 Ig-like C2-type (immunoglobulin-like) domains

Similarity: Contains 1 protein kinase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary: