U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    musk muscle, skeletal, receptor tyrosine kinase [ Danio rerio (zebrafish) ]

    Gene ID: 334526, updated on 9-Dec-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    muskprovided by ZNC
    Official Full Name
    muscle, skeletal, receptor tyrosine kinaseprovided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-6458
    See related
    Ensembl:ENSDARG00000098764 AllianceGenome:ZFIN:ZDB-GENE-030131-6458
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    unp; fj98e12; zgc:63467; wu:fj98e12; si:dz46m7.2; si:dz57f23.3; si:busm1-57f23.3
    Summary
    Enables identical protein binding activity. Acts upstream of or within motor neuron axon guidance; negative regulation of axon extension; and neuromuscular junction development. Located in postsynaptic membrane. Is expressed in adaxial cell; musculature system; pectoral fin; and somite. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 9 and fetal akinesia deformation sequence syndrome 1. Orthologous to human MUSK (muscle associated receptor tyrosine kinase). [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    human mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See musk in Genome Data Viewer
    Location:
    chromosome: 10
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 10 NC_007121.7 (13083720..13178986, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 10 NC_007121.6 (13125601..13220867, complement)

    Chromosome 10 - NC_007121.7Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101882817 Neighboring gene lysophosphatidic acid receptor 1 Neighboring gene uncharacterized LOC137496567 Neighboring gene Ras association domain family member 6

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Zebrafish unplugged reveals a role for muscle-specific kinase homologs in axonal pathway choice. Zhang J, et al. Nat Neurosci, 2004 Dec. PMID 15543140
    2. The beta-adrenergic agonist salbutamol modulates neuromuscular junction formation in zebrafish models of human myasthenic syndromes. McMacken G, et al. Hum Mol Genet, 2018 May 1. PMID 29462491, Free PMC Article
    3. Differential requirement for MuSK and dystroglycan in generating patterns of neuromuscular innervation. Lefebvre JL, et al. Proc Natl Acad Sci U S A, 2007 Feb 13. PMID 17284594, Free PMC Article
    4. Temporal and spatial requirements of unplugged/MuSK function during zebrafish neuromuscular development. Jing L, et al. PLoS One, 2010 Jan 22. PMID 20107509, Free PMC Article
    5. LPA1 is essential for lymphatic vessel development in zebrafish. Lee SJ, et al. FASEB J, 2008 Oct. PMID 18606866

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Agrin/Lrp4 signal constrains MuSK-dependent neuromuscular synapse development in appendicular muscle.
      Title: Agrin/Lrp4 signal constrains MuSK-dependent neuromuscular synapse development in appendicular muscle.
    2. prepatterning in zebrafish requires the MuSK Fz-like domain but not Lrp4
      Title: Diverging roles for Lrp4 and Wnt signaling in neuromuscular synapse development during evolution.
    3. Data show that in vivo, wnt11r and wnt4a initiate MuSK translocation from muscle membranes to recycling endosomes and that this transition is crucial for AChR accumulation at future synaptic sites.
      Title: Initiation of synapse formation by Wnt-induced MuSK endocytosis.
    4. Data suggest that a Wnt11r-MuSK dependent, PCP-like pathway restricts neural crest cells to their segmental path.
      Title: A novel role for MuSK and non-canonical Wnt signaling during segmental neural crest cell migration.
    5. AChR prepatterning and axonal guidance are spatio-temporally coordinated through common unplugged/MuSK signals, and that additional factor(s) restrict unplugged/MuSK signaling to a central muscle zone critical for establishing mid-muscle synaptogenesis
      Title: Temporal and spatial requirements of unplugged/MuSK function during zebrafish neuromuscular development.
    6. Zebrafish unplugged encodes a homolog of muscle-specific kinase (MuSK); unlike mammalian MuSK, unplugged has only a limited role in neuromuscular synaptogenesis.
      Title: Zebrafish unplugged reveals a role for muscle-specific kinase homologs in axonal pathway choice.
    7. genetic evidence that neuromuscular synapse formation can occur in the absence of MuSK and that the combinatorial function of UnpFL/MuSK and dystroglycan generates diverse patterns of vertebrate neuromuscular innervation.
      Title: Differential requirement for MuSK and dystroglycan in generating patterns of neuromuscular innervation.
    Submit: New GeneRIF Correction

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by ZFIN

    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 identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transmembrane receptor protein tyrosine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transmembrane receptor protein tyrosine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cell surface receptor protein tyrosine kinase signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within motor neuron axon guidance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in multicellular organism development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within negative regulation of axon extension IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within receptor clustering IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within skeletal muscle acetylcholine-gated channel clustering IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within synaptic assembly at neuromuscular junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in postsynaptic membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    muscle, skeletal receptor tyrosine-protein kinase
    Names
    unplugged
    NP_001004503.1
    NP_001108364.1
    NP_956202.2
    XP_068079829.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001004503.2 → NP_001004503.1  muscle, skeletal receptor tyrosine-protein kinase isoform 1 precursor

      See identical proteins and their annotated locations for NP_001004503.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      CABZ01038094, CR759894, CU633853, CU633856
      UniProtKB/TrEMBL
      A0A0R4IDI8, A0A8M1N221, Q5J1R9
      Related
      ENSDARP00000132148.2, ENSDART00000163740.2
      Conserved Domains (7) summary
      cd05050
      Location:640 → 930
      PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
      cd07469
      Location:309 → 449
      CRD_TK_ROR_related; Cysteine-rich domain of proteins similar to tyrosine kinase-like orphan receptors
      smart00130
      Location:454 → 536
      KR; Kringle domain
      smart00410
      Location:124 → 205
      IG_like; Immunoglobulin like
      pfam07679
      Location:26 → 108
      I-set; Immunoglobulin I-set domain
      pfam07714
      Location:646 → 928
      Pkinase_Tyr; Protein tyrosine kinase
      cl11960
      Location:136 → 198
      Ig; Immunoglobulin domain

    2. NM_001114892.2 → NP_001108364.1  muscle, skeletal receptor tyrosine-protein kinase isoform 2 precursor

      See identical proteins and their annotated locations for NP_001108364.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an alternate AUG and result in an isoform (2) with a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      CABZ01038094, CU633853
      UniProtKB/TrEMBL
      Q5J1R8
      Conserved Domains (4) summary
      cd05050
      Location:375 → 665
      PTKc_Musk; Catalytic domain of the Protein Tyrosine Kinase, Muscle-specific kinase
      cd07469
      Location:44 → 184
      CRD_TK_ROR_related; Cysteine-rich domain of proteins similar to tyrosine kinase-like orphan receptors
      smart00130
      Location:189 → 271
      KR; Kringle domain
      smart00221
      Location:381 → 663
      STYKc; Protein kinase; unclassified specificity

    3. NM_199908.2 → NP_956202.2  muscle, skeletal receptor tyrosine-protein kinase isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      CR759894, CU633856
      UniProtKB/TrEMBL
      A0A8M1PAD1, Q8JFU3
      Related
      ENSDARP00000139846.1, ENSDART00000160265.2
      Conserved Domains (3) summary
      smart00410
      Location:124 → 205
      IG_like; Immunoglobulin like
      pfam07679
      Location:26 → 108
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:136 → 198
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007121.7 Reference GRCz11 Primary Assembly

      Range
      13083720..13178986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_068223728.1 → XP_068079829.1  muscle, skeletal receptor tyrosine-protein kinase isoform X1

    Nucleotide Protein Strain
    Heading Accession and Version

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.