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

Gene ID: 4593, updated on 3-Jun-2018
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; Vega:OTTHUMG00000020485
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
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
See MUSK in Genome Data Viewer
Location:
9q31.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (110668189..110806633)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (113430935..113566386)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1039, pseudogene Neighboring gene sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 Neighboring gene uncharacterized LOC105376218 Neighboring gene uncharacterized LOC107987115 Neighboring gene ribosomal protein S21 pseudogene 5 Neighboring gene RNA, U6 small nuclear 432, pseudogene Neighboring gene lysophosphatidic acid receptor 1 Neighboring gene RNA, Ro-associated Y4 pseudogene 18

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

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

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

  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC126323, MGC126324

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
MAP kinase kinase kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Wnt-protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
mitogen-activated protein kinase kinase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
memory ISS
Inferred from Sequence or Structural Similarity
more info
 
multicellular organism development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuromuscular junction development IDA
Inferred from Direct Assay
more info
PubMed 
neuromuscular junction development ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein geranylgeranylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
protein autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of synaptic growth at neuromuscular junction ISS
Inferred from Sequence or Structural Similarity
more info
 
skeletal muscle acetylcholine-gated channel clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
neuromuscular junction ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
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
NP_001159753.1
NP_005583.1
XP_005252051.1
XP_005252052.1
XP_005252053.1
XP_011517010.1
XP_016870223.1

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

  1. NG_016016.1 RefSeqGene

    Range
    5001..137228
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166280.1NP_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)
    AF006464, BC109098, BG825304
    Consensus CDS
    CCDS75874.1
    UniProtKB/Swiss-Prot
    O15146
    Related
    ENSP00000189978.6, OTTHUMP00000281241, ENST00000189978.10, OTTHUMT00000488102
    Conserved Domains (4) summary
    cd05050
    Location:483772
    PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
    pfam07679
    Location:121203
    I-set; Immunoglobulin I-set domain
    pfam13927
    Location:223296
    Ig_3; Immunoglobulin domain
    cl02447
    Location:317379
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
  2. NM_001166281.1NP_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)
    AF006464, BC109099, BG825304
    UniProtKB/Swiss-Prot
    O15146
    Conserved Domains (6) summary
    cd05050
    Location:473762
    PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
    cd00096
    Location:229296
    Ig; Immunoglobulin domain
    pfam07679
    Location:121208
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:479760
    Pkinase_Tyr; Protein tyrosine kinase
    cl02447
    Location:307369
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
    cl11960
    Location:135201
    Ig; Immunoglobulin domain
  3. NM_005592.3NP_005583.1  muscle, skeletal receptor tyrosine-protein kinase isoform 1

    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)
    AF006464, BC109099, BG825304
    Consensus CDS
    CCDS48005.1
    UniProtKB/Swiss-Prot
    O15146
    Related
    ENSP00000363571.4, OTTHUMP00000021899, ENST00000374448.8, OTTHUMT00000053627
    Conserved Domains (6) summary
    cd05050
    Location:569858
    PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
    cd00096
    Location:229296
    Ig; Immunoglobulin domain
    pfam07679
    Location:121208
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:575856
    Pkinase_Tyr; Protein tyrosine kinase
    cl02447
    Location:315457
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
    cl11960
    Location:135201
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

    Range
    110668189..110806633
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251994.3XP_005252051.1  muscle, skeletal receptor tyrosine-protein kinase isoform X1

    Conserved Domains (6) summary
    cd05050
    Location:579868
    PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
    cd00096
    Location:239306
    Ig; Immunoglobulin domain
    pfam07679
    Location:121203
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:585866
    Pkinase_Tyr; Protein tyrosine kinase
    cl02447
    Location:325467
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
    cl11960
    Location:135201
    Ig; Immunoglobulin domain
  2. XM_017014734.1XP_016870223.1  muscle, skeletal receptor tyrosine-protein kinase isoform X4

  3. XM_005251995.3XP_005252052.1  muscle, skeletal receptor tyrosine-protein kinase isoform X2

    Conserved Domains (6) summary
    cd05050
    Location:571860
    PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
    cd00096
    Location:239306
    Ig; Immunoglobulin domain
    pfam07679
    Location:121203
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:577858
    Pkinase_Tyr; Protein tyrosine kinase
    cl02447
    Location:325467
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
    cl11960
    Location:135201
    Ig; Immunoglobulin domain
  4. XM_005251996.3XP_005252053.1  muscle, skeletal receptor tyrosine-protein kinase isoform X3

    UniProtKB/TrEMBL
    A0A087WSY1
    Related
    ENSP00000393608.3, OTTHUMP00000021900, ENST00000416899.7, OTTHUMT00000053628
    Conserved Domains (6) summary
    cd05050
    Location:561850
    PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
    cd00096
    Location:229296
    Ig; Immunoglobulin domain
    pfam07679
    Location:121208
    I-set; Immunoglobulin I-set domain
    pfam07714
    Location:567848
    Pkinase_Tyr; Protein tyrosine kinase
    cl02447
    Location:315457
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
    cl11960
    Location:135201
    Ig; Immunoglobulin domain
  5. XM_011518708.2XP_011517010.1  muscle, skeletal receptor tyrosine-protein kinase isoform X5

    Conserved Domains (3) summary
    cd05050
    Location:157446
    PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
    pfam07714
    Location:163444
    Pkinase_Tyr; Protein tyrosine kinase
    cl02447
    Location:145
    CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
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