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

    Gene ID: 4593, updated on 20-Feb-2017
    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]
    Orthologs
    Location:
    9q31.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 Neighboring gene RNA, U6 small nuclear 124, pseudogene 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency
    MedGen: CN229753 OMIM: 616325 GeneReviews: Not available
    Compare labs
    Pena-Shokeir syndrome type I
    MedGen: C1276035 OMIM: 208150 GeneReviews: Not available
    Compare labs

    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
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane receptor protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    memory ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    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 gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein geranylgeranylation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    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 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

    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, OTTHUMP00000281241, ENST00000189978, OTTHUMT00000488102
      Conserved Domains (6) summary
      cd05050
      Location:483772
      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:489770
      Pkinase_Tyr; Protein tyrosine kinase
      cl02447
      Location:317379
      CRD_FZ; CRD_domain cysteine-rich domain, also known as Fz (frizzled) domain
      cl11960
      Location:135201
      Ig; Immunoglobulin 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, OTTHUMP00000021899, ENST00000374448, 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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 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, OTTHUMP00000021900, ENST00000416899, 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

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      113577505..113709694
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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