MUSK muscle associated receptor tyrosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MUSKprovided by HGNC
Official Full Name: muscle associated receptor tyrosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:7525
See related: Ensembl:ENSG00000030304 MIM:601296; AllianceGenome:HGNC:7525
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CMS9; FADS; FADS1
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 9q31.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (110668791..110806558)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (122838447..122978207)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (113431071..113568838)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
Title: The collagen ColQ binds to LRP4 and regulates the activation of the Muscle-Specific Kinase-LRP4 receptor complex by agrin at the neuromuscular junction.
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Title: A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis.
Title: Proteolytic ectodomain shedding of muscle-specific tyrosine kinase in myasthenia gravis.
Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes.
Title: Spotlight on MuSK positive myasthenia gravis: clinical characteristics, treatment and outcomes.
Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies.
Title: Differential Expression of miRNA in the Peripheral Blood Mononuclear Cells in Myasthenia Gravis with Muscle-Specific Receptor Tyrosine Kinase Antibodies.
Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis.
Title: Steric and energetic characterizations of mouse and human musk receptors activated by nitro musk smelling compounds at molecular level: Statistical physics treatment and molecular docking analysis.
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Title: Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Single-cell repertoire tracing identifies rituximab-resistant B cells during myasthenia gravis relapses.
Title: Single-cell repertoire tracing identifies rituximab-resistant B cells during myasthenia gravis relapses.
Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.
Title: Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review.
MUSK mutation is associated with vocal cord paralysis.
Title: Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.

Submit: New GeneRIF Correction See all GeneRIFs (54)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital myasthenic syndrome 9 MedGen: C4225368 OMIM: 616325 GeneReviews: Congenital Myasthenic Syndromes Overview	Compare labs
Fetal akinesia deformation sequence 1 MedGen: C1276035 OMIM: 208150 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of lung function decline in adults with and without asthma. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	The amplified luminescent proximity homogeneous assay (AlphaScreen) identifies the interaction of HIV-1 Gag with MUSK	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S1235 (e-PCR)
- UniSTS:23856

SHGC-11655 (e-PCR)
- UniSTS:51308

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables Wnt-protein binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	ISS Inferred from Sequence or Structural Similarity more info
enables transmembrane receptor protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in neuromuscular junction development	IDA Inferred from Direct Assay more info	PubMed
involved_in neuromuscular junction development	ISS Inferred from Sequence or Structural Similarity more info
NOT involved_in positive regulation of ERK1 and ERK2 cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of kinase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of protein geranylgeranylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autophosphorylation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of synaptic assembly at neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
involved_in skeletal muscle acetylcholine-gated channel clustering	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: muscle, skeletal receptor tyrosine-protein kinase

Names: muscle, skeletal, receptor tyrosine kinase; muscle-specific kinase receptor; muscle-specific tyrosine-protein kinase receptor

NP_001159752.1

EC 2.7.10.1

NP_001159753.1

EC 2.7.10.1

NP_001356327.1

EC 2.7.10.1

NP_005583.1

EC 2.7.10.1

XP_005252051.1

EC 2.7.10.1

XP_005252052.1

EC 2.7.10.1

XP_005252053.1

EC 2.7.10.1

XP_011517010.1

EC 2.7.10.1

XP_016870223.1

EC 2.7.10.1

XP_054218968.1

EC 2.7.10.1

XP_054218969.1

EC 2.7.10.1

XP_054218970.1

EC 2.7.10.1

XP_054218971.1

EC 2.7.10.1

XP_054218972.1

EC 2.7.10.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_016016.2 RefSeqGene

Range

5001..142768

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001166280.2 → NP_001159752.1 muscle, skeletal receptor tyrosine-protein kinase isoform 2

See identical proteins and their annotated locations for NP_001159752.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate in-frame exon and lacks an alternate in-frame exon in the middle portion of the coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AL157881, AL513328

Consensus CDS

CCDS75874.1

UniProtKB/Swiss-Prot

O15146

Related

ENSP00000189978.6, ENST00000189978.10

Conserved Domains (4) summary

cd05050
Location:483 → 772

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

pfam07679
Location:121 → 203

I-set; Immunoglobulin I-set domain

pfam13927
Location:223 → 296

Ig_3; Immunoglobulin domain

cl02447
Location:317 → 379

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
NM_001166281.2 → NP_001159753.1 muscle, skeletal receptor tyrosine-protein kinase isoform 3

See identical proteins and their annotated locations for NP_001159753.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the middle portion of the coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.

Source sequence(s)

AL157881, AL513328

UniProtKB/Swiss-Prot

O15146

Conserved Domains (6) summary

cd05050
Location:473 → 762

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

cd00096
Location:229 → 296

Ig; Immunoglobulin domain

pfam07679
Location:121 → 208

I-set; Immunoglobulin I-set domain

pfam07714
Location:479 → 760

Pkinase_Tyr; Protein tyrosine kinase

cl02447
Location:307 → 369

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

cl11960
Location:135 → 201

Ig; Immunoglobulin domain
NM_001369398.1 → NP_001356327.1 muscle, skeletal receptor tyrosine-protein kinase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AL157881, AL513328

Conserved Domains (2) summary

cd05050
Location:149 → 438

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

cl02447
Location:1 → 45

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
NM_005592.4 → NP_005583.1 muscle, skeletal receptor tyrosine-protein kinase isoform 1 precursor

See identical proteins and their annotated locations for NP_005583.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL157881, AL513328

Consensus CDS

CCDS48005.1

UniProtKB/Swiss-Prot

O15146, Q32MJ8, Q32MJ9, Q5VZW7, Q5VZW8

Related

ENSP00000363571.4, ENST00000374448.9

Conserved Domains (6) summary

cd05050
Location:569 → 858

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

cd00096
Location:229 → 296

Ig; Immunoglobulin domain

pfam07679
Location:121 → 208

I-set; Immunoglobulin I-set domain

pfam07714
Location:575 → 856

Pkinase_Tyr; Protein tyrosine kinase

cl02447
Location:315 → 457

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

cl11960
Location:135 → 201

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

110668791..110806558

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005251994.4 → XP_005252051.1 muscle, skeletal receptor tyrosine-protein kinase isoform X1

Conserved Domains (6) summary

cd05050
Location:579 → 868

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

cd00096
Location:239 → 306

Ig; Immunoglobulin domain

pfam07679
Location:121 → 203

I-set; Immunoglobulin I-set domain

pfam07714
Location:585 → 866

Pkinase_Tyr; Protein tyrosine kinase

cl02447
Location:325 → 467

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

cl11960
Location:135 → 201

Ig; Immunoglobulin domain
XM_005251995.4 → XP_005252052.1 muscle, skeletal receptor tyrosine-protein kinase isoform X2

Conserved Domains (6) summary

cd05050
Location:571 → 860

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

cd00096
Location:239 → 306

Ig; Immunoglobulin domain

pfam07679
Location:121 → 203

I-set; Immunoglobulin I-set domain

pfam07714
Location:577 → 858

Pkinase_Tyr; Protein tyrosine kinase

cl02447
Location:325 → 467

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

cl11960
Location:135 → 201

Ig; Immunoglobulin domain
XM_017014734.2 → XP_016870223.1 muscle, skeletal receptor tyrosine-protein kinase isoform X4
XM_005251996.4 → XP_005252053.1 muscle, skeletal receptor tyrosine-protein kinase isoform X3

UniProtKB/TrEMBL

A0A087WSY1

Related

ENSP00000393608.3, ENST00000416899.7

Conserved Domains (6) summary

cd05050
Location:561 → 850

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

cd00096
Location:229 → 296

Ig; Immunoglobulin domain

pfam07679
Location:121 → 208

I-set; Immunoglobulin I-set domain

pfam07714
Location:567 → 848

Pkinase_Tyr; Protein tyrosine kinase

cl02447
Location:315 → 457

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

cl11960
Location:135 → 201

Ig; Immunoglobulin domain
XM_011518708.3 → XP_011517010.1 muscle, skeletal receptor tyrosine-protein kinase isoform X5

Conserved Domains (3) summary

cd05050
Location:157 → 446

PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase

pfam07714
Location:163 → 444

Pkinase_Tyr; Protein tyrosine kinase

cl02447
Location:1 → 45

CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain

Alternate T2T-CHM13v2.0

Genomic

NC_060933.1 Alternate T2T-CHM13v2.0

Range

122838447..122978207

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054362993.1 → XP_054218968.1 muscle, skeletal receptor tyrosine-protein kinase isoform X1
XM_054362994.1 → XP_054218969.1 muscle, skeletal receptor tyrosine-protein kinase isoform X2
XM_054362996.1 → XP_054218971.1 muscle, skeletal receptor tyrosine-protein kinase isoform X4
XM_054362995.1 → XP_054218970.1 muscle, skeletal receptor tyrosine-protein kinase isoform X3

UniProtKB/TrEMBL

A0A087WSY1
XM_054362997.1 → XP_054218972.1 muscle, skeletal receptor tyrosine-protein kinase isoform X5