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
-
- All Expression Data
- 12 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63467 (6 images)
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
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 domain subtype |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR020067 | Frizzled domain |
| Domain | IPR020635 | Tyrosine-protein kinase, catalytic domain |
| Family | IPR050122 | Receptor Tyrosine Kinase |
| Family | IPR051170 | Neural and epithelial cell adhesion domain-containing protein |
| 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 domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Kringle | Kringle, conserved site | Kringle-like fold | Kringle superfamily | Neural and epithelial cell adhesion domain-containing protein | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q8JFU3
|
351 | ||||||||||||||||||||
|
UniProtKB:Q5J1R8
|
676 | ||||||||||||||||||||
|
UniProtKB:Q5J1R9
|
941 |
Interactions and Pathways
No data available
Plasmids
No data available