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muscle, skeletal receptor tyrosine protein kinase(muscle-specific tyrosine protein kinase receptor, MuSK)
Function:
- receptor tyrosine kinase
- mediator of agrin's action
- role in neuromuscular junction organization (putative)
- interacts with DOK7, which regulates its activity (putative)
Structure:
- belongs to the protein kinase superfamily, Tyr protein kinase family
- contains 1 FZ (frizzled) domain
- contains 3 Ig-like C2-type domain (immunoglobulin-like)
- contains 1 protein kinase domain
Compartment: membrane
Alternative splicing: named isoforms=3
Pathology:
- defects in MUSK is a cause of autosomal recessive congenital myasthenic syndrome
General
tyrosine kinase receptor (RTK)
Properties
SIZE: MW = 97 kD
entity length = 869 aa
COMPARTMENT: cellular membrane
STATE: active state
MOTIF: immunoglobulin superfamily domain {1-302} (3)
MOTIF: N-glycosylation site {N222}
cysteine residue {C233}
MODIFICATION: cysteine residue {C282}
cysteine residue {C282}
MODIFICATION: cysteine residue {C233}
FZ {312-450}
MOTIF: cysteine residue {C317}
MODIFICATION: cysteine residue {C382}
cysteine residue {C325}
MODIFICATION: cysteine residue {C375}
N-glycosylation site {N338}
cysteine residue {C366}
MODIFICATION: cysteine residue {C406}
cysteine residue {C375}
MODIFICATION: cysteine residue {C325}
cysteine residue {C382}
MODIFICATION: cysteine residue {C317}
cysteine residue {C394}
MODIFICATION: cysteine residue {C447}
cysteine residue {C406}
MODIFICATION: cysteine residue {C366}
cysteine residue {C447}
MODIFICATION: cysteine residue {C394}
transmembrane domain {496-516}
kinase domain
SITE: 575-856
MOTIF: ATP-binding site
NAME: ATP-binding site
SITE: 581-589
ATP-binding site
NAME: ATP-binding site
SITE: 609-609
aspartate residue {D725}
Tyr phosphorylation site {Y755}
Database Correlations
OMIM correlations
UniProt O15146
PFAM correlations
Kegg hsa:4593
References
- UniProt :accession O15146
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=MUSK
- Wikipedia; Note: MuSK entry
http://en.wikipedia.org/wiki/MuSK_protein