Gene

musk

ID
ZDB-GENE-030131-6458
Name
muscle, skeletal, receptor tyrosine kinase
Symbol
musk Nomenclature History
Previous Names
  • fj98e12
  • si:busm1-57f23.3 (1)
  • si:dz46m7.2
  • si:dz57f23.3
  • unp
  • unplugged
  • wu:fj98e12
  • zgc:63467
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Exhibits identical protein binding activity. Involved in nervous system development and skeletal muscle acetylcholine-gated channel clustering. Localizes to postsynaptic membrane. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 9 and fetal akinesia deformation sequence syndrome 1. Is expressed in adaxial cell; musculature system; pectoral fin; and somite. Orthologous to human MUSK (muscle associated receptor tyrosine kinase).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With musk Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital myasthenic syndrome 9 Alliance Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 616325
fetal akinesia deformation sequence syndrome 1 Alliance Fetal akinesia deformation sequence 1 208150
Associated With musk Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR008266 Tyrosine-protein kinase, active site
Binding_site IPR017441 Protein kinase, ATP binding site
Conserved_site IPR018056 Kringle, conserved site
Domain IPR000001 Kringle
Domain IPR000719 Protein kinase domain
Domain IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain
Domain IPR003598 Immunoglobulin subtype 2
Domain IPR003599 Immunoglobulin subtype
Domain IPR007110 Immunoglobulin-like domain
Domain IPR013098 Immunoglobulin I-set
Domain IPR020067 Frizzled domain
Domain IPR020635 Tyrosine-protein kinase, catalytic domain
Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
Homologous_superfamily IPR013783 Immunoglobulin-like fold
Homologous_superfamily IPR013806 Kringle-like fold
Homologous_superfamily IPR036179 Immunoglobulin-like domain superfamily
Homologous_superfamily IPR036790 Frizzled cysteine-rich domain superfamily
Homologous_superfamily IPR038178 Kringle superfamily
Domain Details Per Protein
Protein Length Frizzled cysteine-rich domain superfamily Frizzled domain Immunoglobulin I-set Immunoglobulin-like domain Immunoglobulin-like domain superfamily Immunoglobulin-like fold Immunoglobulin subtype Immunoglobulin subtype 2 Kringle Kringle, conserved site Kringle-like fold Kringle superfamily Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Serine-threonine/tyrosine-protein kinase, catalytic domain Tyrosine-protein kinase, active site Tyrosine-protein kinase, catalytic domain
UniProtKB:Q5J1R9 941
UniProtKB:A0A0R4IJJ5 248
UniProtKB:A0A0R4IZ74 941
UniProtKB:A4JYH3 300
UniProtKB:A4JYH2 565
UniProtKB:Q8JFU3 351
UniProtKB:Q7SY58 351
UniProtKB:Q5J1R8 676
UniProtKB:A0A0R4IEH7 513
UniProtKB:Q7ZZ92 553
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations