Musk muscle associated receptor tyrosine kinase [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Muskprovided by RGD
Official Full Name: muscle associated receptor tyrosine kinaseprovided by RGD
Primary source: RGD:3211
See related: EnsemblRapid:ENSRNOG00000033567 AllianceGenome:RGD:3211
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Nsk1
Summary: Enables protein kinase binding activity and protein tyrosine kinase activity. Involved in several processes, including positive regulation of synaptic assembly at neuromuscular junction; positive regulation of synaptic transmission; and regulation of gene expression. Located in cell projection; external side of plasma membrane; and neuromuscular junction. 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, Nov 2024]
Expression: Biased expression in Muscle (RPKM 30.2), Testes (RPKM 16.4) and 6 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 5q24

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	5	NC_086023.1 (77853560..77967653)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	5	NC_051340.1 (73058427..73169696)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	5	NC_005104.4 (75392790..75498694)

Chromosome 5 - NC_086023.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Low endurance exercise plus blood flow restriction improves the MuSK and hypertrophy index of both slow and fast muscles of elderly rats probably through the rise of PGC-1alpha expression
Title: Mild aerobic training with blood flow restriction increases the hypertrophy index and MuSK in both slow and fast muscles of old rats: Role of PGC-1α.
MuSK kinase activity is necessary for substrate-dependent acetylcholine receptor cluster formation
Title: The formation of complex acetylcholine receptor clusters requires MuSK kinase activity and structural information from the MuSK extracellular domain.
The crystal structure of the Dok7 PH-PTB domains in complex with a phosphopeptide representing the Dok7-binding site on MuSK, is presented.
Title: The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.
The structure reveals a five-disulfide-bridged domain similar to CRDs of Frizzled proteins but with a divergent C-terminal region.
Title: Crystal structure of the frizzled-like cysteine-rich domain of the receptor tyrosine kinase MuSK.
results identify a synapse-associated E3 ubiquitin ligase as an important regulator of MuSK signaling
Title: Regulation of synaptic growth and maturation by a synapse-associated E3 ubiquitin ligase at the neuromuscular junction.
crystal structure of the cytoplasmic domain of unphosphorylated MuSK at 2.05 A resolution, and insights into receptor autoregulation
Title: Crystal structure of the MuSK tyrosine kinase: insights into receptor autoregulation.
Data show that expression of a chimeric receptor containing the juxtamembrane region of Musk and the kinase domain of TrkA restores presynaptic and postsynaptic differentiation in Musk-deficient mice.
Title: Restoration of synapse formation in Musk mutant mice expressing a Musk/Trk chimeric receptor.
Data demonstrate that the putative signal peptide is both necessary and sufficient for MuSK self-association.
Title: Cell-surface MuSK self-association: a crucial role for the putative signal sequence.
We conclude that MuSK plays an important role in brain functions, including memory formation.
Title: MuSK expressed in the brain mediates cholinergic responses, synaptic plasticity, and memory formation.
In summary, the presence of MuSK on retinal astrocytes suggests a novel role of MuSK signalling pathways in the CNS.
Title: Identification of developmentally regulated expression of MuSK in astrocytes of the rodent retina.

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General gene information

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Markers

AU048759 (e-PCR)
- UniSTS:145209

AW535152 (e-PCR)
- UniSTS:247190

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables PDZ domain binding	ISO Inferred from Sequence Orthology 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 kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein tyrosine kinase activity	IEA Inferred from Electronic Annotation more info
enables protein tyrosine kinase activity	ISO Inferred from Sequence Orthology 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
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 cochlea development	IEP Inferred from Expression Pattern more info	PubMed
involved_in enzyme-linked receptor protein signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in long-term synaptic potentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in memory	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of motor neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in multicellular organism development	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
involved_in neuromuscular junction development	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular junction development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within neuromuscular junction development	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular junction development	ISO Inferred from Sequence Orthology more info
involved_in neuromuscular junction development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of Rac protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of motor neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of skeletal muscle acetylcholine-gated channel clustering	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of synaptic assembly at neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of synaptic transmission, cholinergic	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in receptor clustering	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within receptor clustering	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of synaptic assembly at neuromuscular junction	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic assembly at neuromuscular junction	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to axon injury	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to electrical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to muscle activity	IEP Inferred from Expression Pattern more info	PubMed
involved_in retina development in camera-type eye	IEP Inferred from Expression Pattern more info	PubMed
involved_in skeletal muscle acetylcholine-gated channel clustering	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	IDA Inferred from Direct Assay more info	PubMed
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in neuromuscular junction	ISO Inferred from Sequence Orthology 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 plasma membrane	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
located_in postsynaptic membrane	ISO Inferred from Sequence Orthology more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IEA Inferred from Electronic Annotation more info
part_of receptor complex	ISO Inferred from Sequence Orthology more info
located_in synapse	IEA Inferred from Electronic Annotation more info
located_in synapse	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: muscle, skeletal receptor tyrosine protein kinase

Names: muscle specific kinase (neural fold/somite kinase 1); muscle, skeletal, receptor tyrosine kinase; muscle-specific kinase receptor; muscle-specific tyrosine kinase receptor MuSK; muscle-specific tyrosine protein kinase receptor

NP_112323.2

EC 2.7.10.1

XP_063144540.1

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.

mRNA and Protein(s)

NM_031061.2 → NP_112323.2 muscle, skeletal receptor tyrosine protein kinase precursor

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000005

UniProtKB/Swiss-Prot

Q62838

Related

ENSRNOP00000093853.2, ENSRNOT00000118034.2

Conserved Domains (6) summary

cd05050
Location:568 → 857

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

cd07469
Location:313 → 457

CRD_TK_ROR_related; Cysteine-rich domain of proteins similar to tyrosine kinase-like orphan receptors

pfam13927
Location:218 → 286

Ig_3; Immunoglobulin domain

cd00096
Location:222 → 225

Ig; Ig strand A' [structural motif]

cd20968
Location:122 → 209

IgI_2_MuSK; agrin-responsive second immunoglobulin-like domains (Ig2) of the Muscle-specific kinase (MuSK) ectodomain; a member of the I-set of Ig superfamily domains

cd20970
Location:28 → 117

IgI_1_MuSK; agrin-responsive first immunoglobulin-like domains (Ig1) of the MuSK ectodomain; a member of the I-set of IgSF domains