{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O15146","secondaryAccessions":["Q32MJ8","Q32MJ9","Q5VZW7","Q5VZW8"],"uniProtkbId":"MUSK_HUMAN","entryAudit":{"firstPublicDate":"2004-07-19","lastAnnotationUpdateDate":"2026-06-10","lastSequenceUpdateDate":"1998-01-01","entryVersion":205,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Muscle, skeletal receptor tyrosine-protein kinase"},"ecNumbers":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25029443"}],"value":"2.7.10.1"}]},"alternativeNames":[{"fullName":{"value":"Muscle-specific tyrosine-protein kinase receptor"},"shortNames":[{"value":"MuSK"},{"value":"Muscle-specific kinase receptor"}]}],"flag":"Precursor"},"genes":[{"geneName":{"value":"MUSK"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q62838"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25537362"}],"value":"Receptor tyrosine kinase which plays a central role in the formation and the maintenance of the neuromuscular junction (NMJ), the synapse between the motor neuron and the skeletal muscle (PubMed:25537362). Recruitment of AGRIN by LRP4 to the MUSK signaling complex induces phosphorylation and activation of MUSK, the kinase of the complex. The activation of MUSK in myotubes regulates the formation of NMJs through the regulation of different processes including the specific expression of genes in subsynaptic nuclei, the reorganization of the actin cytoskeleton and the clustering of the acetylcholine receptors (AChR) in the postsynaptic membrane. May regulate AChR phosphorylation and clustering through activation of ABL1 and Src family kinases which in turn regulate MUSK. DVL1 and PAK1 that form a ternary complex with MUSK are also important for MUSK-dependent regulation of AChR clustering. May positively regulate Rho family GTPases through FNTA. Mediates the phosphorylation of FNTA which promotes prenylation, recruitment to membranes and activation of RAC1 a regulator of the actin cytoskeleton and of gene expression. Other effectors of the MUSK signaling include DNAJA3 which functions downstream of MUSK. May also play a role in acetylcholinesterase (AChE) localization at the neuromuscular junctions (NMJ) via its interaction wit COLQ (By similarity). May also play a role within the central nervous system by mediating cholinergic responses, synaptic plasticity and memory formation (By similarity)"}],"commentType":"FUNCTION"},{"commentType":"CATALYTIC ACTIVITY","reaction":{"name":"L-tyrosyl-[protein] + ATP = O-phospho-L-tyrosyl-[protein] + ADP + H(+)","reactionCrossReferences":[{"database":"Rhea","id":"RHEA:10596"},{"database":"Rhea","id":"RHEA-COMP:10136"},{"database":"Rhea","id":"RHEA-COMP:20101"},{"database":"ChEBI","id":"CHEBI:15378"},{"database":"ChEBI","id":"CHEBI:30616"},{"database":"ChEBI","id":"CHEBI:46858"},{"database":"ChEBI","id":"CHEBI:61978"},{"database":"ChEBI","id":"CHEBI:456216"}],"ecNumber":"2.7.10.1","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU10028"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25029443"}]}},{"commentType":"COFACTOR","cofactors":[{"name":"Mg(2+)","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25029443"}],"cofactorCrossReference":{"database":"ChEBI","id":"CHEBI:18420"}}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Positively regulated by CK2"}],"commentType":"ACTIVITY REGULATION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"},{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q62838"}],"value":"Monomer (By similarity). Homodimer (By similarity). Interacts with LRP4; the heterodimer forms an AGRIN receptor complex that binds AGRIN resulting in activation of MUSK. Forms a heterotetramer composed of 2 DOK7 and 2 MUSK molecules which facilitates MUSK trans-autophosphorylation on tyrosine residue and activation. Interacts (via cytoplasmic part) with DOK7 (via IRS-type PTB domain); requires MUSK phosphorylation. Interacts with DVL1 (via DEP domain); the interaction is direct and mediates the formation of a DVL1, MUSK and PAK1 ternary complex involved in AChR clustering (By similarity). Interacts with PDZRN3; this interaction is enhanced by agrin (By similarity). Interacts with FNTA; the interaction is direct and mediates AGRIN-induced phosphorylation and activation of FNTA (By similarity). Interacts with CSNK2B; mediates regulation by CK2 (By similarity). Interacts (via the cytoplasmic domain) with DNAJA3. Interacts with NSF; may regulate MUSK endocytosis and activity (By similarity). Interacts with CAV3; may regulate MUSK signaling (By similarity). Interacts with RNF31 (By similarity). Interacts with DOK7 (By similarity). Interacts with the acetylcholinesterase collagenic tail peptide (COLQ); the interaction may play a role in acetylcholinesterase (AChE) localization at the neuromuscular junctions (NMJ) (By similarity)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"O15146","intActId":"EBI-6423196"},"interactantTwo":{"uniProtKBAccession":"Q16543","geneName":"CDC37","intActId":"EBI-295634"},"numberOfExperiments":3,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15146","intActId":"EBI-6423196"},"interactantTwo":{"uniProtKBAccession":"P08238","geneName":"HSP90AB1","intActId":"EBI-352572"},"numberOfExperiments":2,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"O15146","intActId":"EBI-6423196"},"interactantTwo":{"uniProtKBAccession":"P62258","geneName":"YWHAE","intActId":"EBI-356498"},"numberOfExperiments":2,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23326516"}],"value":"Colocalizes with acetylcholine receptors (AChR) to the postsynaptic cell membrane of the neuromuscular junction"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23326516"}],"value":"Postsynaptic cell membrane","id":"SL-0219"},"topology":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Single-pass type I membrane protein","id":"SL-9905"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["O15146-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["O15146-2"],"sequenceIds":["VSP_035958","VSP_035959","VSP_035960"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["O15146-3"],"sequenceIds":["VSP_035959","VSP_035960"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250"}],"value":"Ubiquitinated by PDZRN3. Ubiquitination promotes endocytosis and lysosomal degradation (By similarity)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q61006"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25029443"}],"value":"Phosphorylated (By similarity). Phosphorylation is induced by AGRIN in a LRP4-dependent manner (By similarity). Autophosphorylated (PubMed:25029443). Autophosphorylation at Tyr-554 is required for interaction with DOK7 which in turn stimulates the phosphorylation and the activation of MUSK (By similarity)"}],"commentType":"PTM"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20596523"}],"value":"Neddylated"}],"commentType":"PTM"},{"commentType":"DISEASE","disease":{"diseaseId":"Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency","diseaseAccession":"DI-04400","acronym":"CMS9","description":"A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre-synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features are easy fatigability and muscle weakness affecting the axial and limb muscles (with hypotonia in early-onset forms), the ocular muscles (leading to ptosis and ophthalmoplegia), and the facial and bulbar musculature (affecting sucking and swallowing, and leading to dysphonia). The symptoms fluctuate and worsen with physical effort. CMS9 is a disorder of postsynaptic neuromuscular transmission, due to deficiency of AChR at the endplate that results in low amplitude of the miniature endplate potential and current.","diseaseCrossReference":{"database":"MIM","id":"616325"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15496425"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19949040"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20371544"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23326516"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24183479"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry. MUSK mutations lead to decreased agrin-dependent AChR aggregation, a critical step in the formation of the neuromuscular junction"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Fetal akinesia deformation sequence 1","diseaseAccession":"DI-01615","acronym":"FADS1","description":"A clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. Clinical features include fetal akinesia, intrauterine growth retardation, polyhydramnios, arthrogryposis, pulmonary hypoplasia, craniofacial abnormalities, and cryptorchidism. FADS1 inheritance is autosomal recessive.","diseaseCrossReference":{"database":"MIM","id":"208150"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25537362"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25612909"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00159"}],"value":"Belongs to the protein kinase superfamily. Tyr protein kinase family"}],"commentType":"SIMILARITY"},{"commentType":"WEB RESOURCE","resourceName":"Wikipedia","resourceUrl":"https://en.wikipedia.org/wiki/MuSK_protein","ftp":false,"note":"MuSK entry"}],"features":[{"type":"Signal","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":23,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Chain","location":{"start":{"value":24,"modifier":"EXACT"},"end":{"value":869,"modifier":"EXACT"}},"description":"Muscle, skeletal receptor tyrosine-protein kinase","featureId":"PRO_0000024446"},{"type":"Topological domain","location":{"start":{"value":24,"modifier":"EXACT"},"end":{"value":495,"modifier":"EXACT"}},"description":"Extracellular","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Transmembrane","location":{"start":{"value":496,"modifier":"EXACT"},"end":{"value":516,"modifier":"EXACT"}},"description":"Helical","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Topological domain","location":{"start":{"value":517,"modifier":"EXACT"},"end":{"value":869,"modifier":"EXACT"}},"description":"Cytoplasmic","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Domain","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":116,"modifier":"EXACT"}},"description":"Ig-like 1"},{"type":"Domain","location":{"start":{"value":121,"modifier":"EXACT"},"end":{"value":205,"modifier":"EXACT"}},"description":"Ig-like 2"},{"type":"Domain","location":{"start":{"value":212,"modifier":"EXACT"},"end":{"value":302,"modifier":"EXACT"}},"description":"Ig-like 3"},{"type":"Domain","location":{"start":{"value":312,"modifier":"EXACT"},"end":{"value":450,"modifier":"EXACT"}},"description":"FZ","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00090"}]},{"type":"Domain","location":{"start":{"value":575,"modifier":"EXACT"},"end":{"value":856,"modifier":"EXACT"}},"description":"Protein kinase","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00159"}]},{"type":"Active site","location":{"start":{"value":725,"modifier":"EXACT"},"end":{"value":725,"modifier":"EXACT"}},"description":"Proton acceptor","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00159"},{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU10028"}]},{"type":"Binding site","location":{"start":{"value":581,"modifier":"EXACT"},"end":{"value":589,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00159"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Binding site","location":{"start":{"value":609,"modifier":"EXACT"},"end":{"value":609,"modifier":"EXACT"}},"description":"","featureCrossReferences":[{"database":"ChEBI","id":"CHEBI:30616"}],"evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00159"}],"ligand":{"name":"ATP","id":"ChEBI:CHEBI:30616"}},{"type":"Modified residue","location":{"start":{"value":554,"modifier":"EXACT"},"end":{"value":554,"modifier":"EXACT"}},"description":"Phosphotyrosine; by autocatalysis","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q61006"}]},{"type":"Modified residue","location":{"start":{"value":681,"modifier":"EXACT"},"end":{"value":681,"modifier":"EXACT"}},"description":"Phosphoserine; by CK2","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q61006"}]},{"type":"Modified residue","location":{"start":{"value":698,"modifier":"EXACT"},"end":{"value":698,"modifier":"EXACT"}},"description":"Phosphoserine; by CK2","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q61006"}]},{"type":"Modified residue","location":{"start":{"value":755,"modifier":"EXACT"},"end":{"value":755,"modifier":"EXACT"}},"description":"Phosphotyrosine; by autocatalysis","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q62838"}]},{"type":"Glycosylation","location":{"start":{"value":222,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000255"}],"featureId":""},{"type":"Glycosylation","location":{"start":{"value":338,"modifier":"EXACT"},"end":{"value":338,"modifier":"EXACT"}},"description":"N-linked (GlcNAc...) asparagine","evidences":[{"evidenceCode":"ECO:0000250"}],"featureId":""},{"type":"Disulfide bond","location":{"start":{"value":49,"modifier":"EXACT"},"end":{"value":99,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":98,"modifier":"EXACT"},"end":{"value":112,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":142,"modifier":"EXACT"},"end":{"value":190,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":233,"modifier":"EXACT"},"end":{"value":282,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":317,"modifier":"EXACT"},"end":{"value":382,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":325,"modifier":"EXACT"},"end":{"value":375,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":366,"modifier":"EXACT"},"end":{"value":406,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":394,"modifier":"EXACT"},"end":{"value":447,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Disulfide bond","location":{"start":{"value":398,"modifier":"EXACT"},"end":{"value":434,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000250"}]},{"type":"Alternative sequence","location":{"start":{"value":209,"modifier":"EXACT"},"end":{"value":209,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_035958","alternativeSequence":{"originalSequence":"E","alternativeSequences":["EEESEPEQDTK"]}},{"type":"Alternative sequence","location":{"start":{"value":307,"modifier":"EXACT"},"end":{"value":394,"modifier":"EXACT"}},"description":"in isoform 2 and isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_035959","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":454,"modifier":"EXACT"},"end":{"value":462,"modifier":"EXACT"}},"description":"in isoform 2 and isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15489334"}],"featureId":"VSP_035960","alternativeSequence":{"originalSequence":"DYNKENLKT","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":27,"modifier":"EXACT"},"end":{"value":27,"modifier":"EXACT"}},"description":"in dbSNP:rs56054734","featureCrossReferences":[{"database":"dbSNP","id":"rs56054734"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041748","alternativeSequence":{"originalSequence":"A","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":38,"modifier":"EXACT"},"end":{"value":38,"modifier":"EXACT"}},"description":"in CMS9; dbSNP:rs775587809","featureCrossReferences":[{"database":"dbSNP","id":"rs775587809"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"24183479"}],"featureId":"VAR_072785","alternativeSequence":{"originalSequence":"D","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":100,"modifier":"EXACT"},"end":{"value":100,"modifier":"EXACT"}},"description":"in dbSNP:rs35142681","featureCrossReferences":[{"database":"dbSNP","id":"rs35142681"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041749","alternativeSequence":{"originalSequence":"T","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":107,"modifier":"EXACT"},"end":{"value":107,"modifier":"EXACT"}},"description":"in dbSNP:rs55786136","featureCrossReferences":[{"database":"dbSNP","id":"rs55786136"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041750","alternativeSequence":{"originalSequence":"G","alternativeSequences":["E"]}},{"type":"Natural variant","location":{"start":{"value":159,"modifier":"EXACT"},"end":{"value":159,"modifier":"EXACT"}},"description":"in dbSNP:rs35176182","featureCrossReferences":[{"database":"dbSNP","id":"rs35176182"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041751","alternativeSequence":{"originalSequence":"S","alternativeSequences":["G"]}},{"type":"Natural variant","location":{"start":{"value":222,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"in dbSNP:rs55826142","featureCrossReferences":[{"database":"dbSNP","id":"rs55826142"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041752","alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":344,"modifier":"EXACT"},"end":{"value":344,"modifier":"EXACT"}},"description":"in CMS9; dbSNP:rs387906803","featureCrossReferences":[{"database":"dbSNP","id":"rs387906803"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19949040"}],"featureId":"VAR_072786","alternativeSequence":{"originalSequence":"P","alternativeSequences":["R"]}},{"type":"Natural variant","location":{"start":{"value":413,"modifier":"EXACT"},"end":{"value":413,"modifier":"EXACT"}},"description":"in dbSNP:rs2274419","featureCrossReferences":[{"database":"dbSNP","id":"rs2274419"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_021930","alternativeSequence":{"originalSequence":"M","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":575,"modifier":"EXACT"},"end":{"value":575,"modifier":"EXACT"}},"description":"in FADS1; reduces agrin-dependent AChR aggregation and tyrosine kinase activity in developing neuromuscular junction; dbSNP:rs751889864","featureCrossReferences":[{"database":"dbSNP","id":"rs751889864"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25537362"}],"featureId":"VAR_072787","alternativeSequence":{"originalSequence":"I","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":605,"modifier":"EXACT"},"end":{"value":605,"modifier":"EXACT"}},"description":"in CMS9; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering; dbSNP:rs766640370","featureCrossReferences":[{"database":"dbSNP","id":"rs766640370"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20371544"}],"featureId":"VAR_066604","alternativeSequence":{"originalSequence":"M","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":629,"modifier":"EXACT"},"end":{"value":629,"modifier":"EXACT"}},"description":"in dbSNP:rs34267283","featureCrossReferences":[{"database":"dbSNP","id":"rs34267283"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041753","alternativeSequence":{"originalSequence":"L","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":644,"modifier":"EXACT"},"end":{"value":644,"modifier":"EXACT"}},"description":"in dbSNP:rs41279055","featureCrossReferences":[{"database":"dbSNP","id":"rs41279055"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041754","alternativeSequence":{"originalSequence":"V","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":664,"modifier":"EXACT"},"end":{"value":664,"modifier":"EXACT"}},"description":"in dbSNP:rs55963442","featureCrossReferences":[{"database":"dbSNP","id":"rs55963442"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041755","alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":696,"modifier":"EXACT"},"end":{"value":696,"modifier":"EXACT"}},"description":"in dbSNP:rs56126328","featureCrossReferences":[{"database":"dbSNP","id":"rs56126328"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041756","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":727,"modifier":"EXACT"},"end":{"value":727,"modifier":"EXACT"}},"description":"in CMS9; affects interaction with DOK7 and impairs MUSK phosphorylation; altered AChR clustering; dbSNP:rs397515450","featureCrossReferences":[{"database":"dbSNP","id":"rs397515450"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"20371544"}],"featureId":"VAR_066605","alternativeSequence":{"originalSequence":"A","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":782,"modifier":"EXACT"},"end":{"value":782,"modifier":"EXACT"}},"description":"in dbSNP:rs34614566","featureCrossReferences":[{"database":"dbSNP","id":"rs34614566"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041757","alternativeSequence":{"originalSequence":"E","alternativeSequences":["D"]}},{"type":"Natural variant","location":{"start":{"value":790,"modifier":"EXACT"},"end":{"value":790,"modifier":"EXACT"}},"description":"in CMS9; does not affect catalytic kinase activity; reduces protein expression and stability; dbSNP:rs199476083","featureCrossReferences":[{"database":"dbSNP","id":"rs199476083"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15496425"}],"featureId":"VAR_023046","alternativeSequence":{"originalSequence":"V","alternativeSequences":["M"]}},{"type":"Natural variant","location":{"start":{"value":819,"modifier":"EXACT"},"end":{"value":819,"modifier":"EXACT"}},"description":"in a lung neuroendocrine carcinoma sample; somatic mutation; dbSNP:rs757577755","featureCrossReferences":[{"database":"dbSNP","id":"rs757577755"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041758","alternativeSequence":{"originalSequence":"N","alternativeSequences":["S"]}},{"type":"Natural variant","location":{"start":{"value":829,"modifier":"EXACT"},"end":{"value":829,"modifier":"EXACT"}},"description":"in dbSNP:rs578430","featureCrossReferences":[{"database":"dbSNP","id":"rs578430"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_033837","alternativeSequence":{"originalSequence":"V","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":835,"modifier":"EXACT"},"end":{"value":835,"modifier":"EXACT"}},"description":"in CMS9; reduces AChR aggregation in developing neuromuscular junction","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"23326516"}],"featureId":"VAR_072788","alternativeSequence":{"originalSequence":"M","alternativeSequences":["V"]}},{"type":"Natural variant","location":{"start":{"value":858,"modifier":"EXACT"},"end":{"value":858,"modifier":"EXACT"}},"description":"in dbSNP:rs34115159","featureCrossReferences":[{"database":"dbSNP","id":"rs34115159"}],"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17344846"}],"featureId":"VAR_041759","alternativeSequence":{"originalSequence":"R","alternativeSequences":["H"]}},{"type":"Mutagenesis","location":{"start":{"value":584,"modifier":"EXACT"},"end":{"value":584,"modifier":"EXACT"}},"description":"Mild decrease in kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25029443"}],"alternativeSequence":{"originalSequence":"G","alternativeSequences":["C","D"]}},{"type":"Mutagenesis","location":{"start":{"value":609,"modifier":"EXACT"},"end":{"value":609,"modifier":"EXACT"}},"description":"Severe loss of kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25029443"}],"alternativeSequence":{"originalSequence":"K","alternativeSequences":["R"]}},{"type":"Mutagenesis","location":{"start":{"value":743,"modifier":"EXACT"},"end":{"value":743,"modifier":"EXACT"}},"description":"Severe loss of kinase activity.","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"25029443"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0067","category":"Ligand","name":"ATP-binding"},{"id":"KW-1003","category":"Cellular component","name":"Cell membrane"},{"id":"KW-1004","category":"Disease","name":"Congenital myasthenic syndrome"},{"id":"KW-0217","category":"Molecular function","name":"Developmental protein"},{"id":"KW-0221","category":"Biological process","name":"Differentiation"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-1015","category":"PTM","name":"Disulfide bond"},{"id":"KW-0325","category":"PTM","name":"Glycoprotein"},{"id":"KW-0393","category":"Domain","name":"Immunoglobulin domain"},{"id":"KW-0418","category":"Molecular function","name":"Kinase"},{"id":"KW-0460","category":"Ligand","name":"Magnesium"},{"id":"KW-0472","category":"Cellular component","name":"Membrane"},{"id":"KW-0479","category":"Ligand","name":"Metal-binding"},{"id":"KW-0514","category":"Molecular function","name":"Muscle protein"},{"id":"KW-0547","category":"Ligand","name":"Nucleotide-binding"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-0628","category":"Cellular component","name":"Postsynaptic cell membrane"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-0675","category":"Molecular function","name":"Receptor"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0677","category":"Domain","name":"Repeat"},{"id":"KW-0732","category":"Domain","name":"Signal"},{"id":"KW-0770","category":"Cellular component","name":"Synapse"},{"id":"KW-0808","category":"Molecular function","name":"Transferase"},{"id":"KW-0812","category":"Domain","name":"Transmembrane"},{"id":"KW-1133","category":"Domain","name":"Transmembrane helix"},{"id":"KW-0829","category":"Molecular function","name":"Tyrosine-protein kinase"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"citation":{"id":"7546737","citationType":"journal article","authors":["Valenzuela D.M.","Stitt T.N.","DiStefano P.S.","Rojas E.","Mattsson K.","Compton D.L.","Nunez L.","Park J.S.","Stark J.L.","Gies D.R.","Thomas S.","LeBeau M.M.","Fernald A.A.","Copeland N.G.","Jenkins N.A.","Burden S.J.","Glass D.J.","Yancopoulos G.D."],"citationCrossReferences":[{"database":"PubMed","id":"7546737"},{"database":"DOI","id":"10.1016/0896-6273(95)90146-9"}],"title":"Receptor tyrosine kinase specific for the skeletal muscle lineage: expression in embryonic muscle, at the neuromuscular junction, and after injury.","publicationDate":"1995","journal":"Neuron","firstPage":"573","lastPage":"584","volume":"15"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)","ALTERNATIVE SPLICING (ISOFORMS 2 AND 3)"]},{"referenceNumber":2,"citation":{"id":"15164053","citationType":"journal article","authors":["Humphray S.J.","Oliver K.","Hunt A.R.","Plumb R.W.","Loveland J.E.","Howe K.L.","Andrews T.D.","Searle S.","Hunt S.E.","Scott C.E.","Jones M.C.","Ainscough R.","Almeida J.P.","Ambrose K.D.","Ashwell R.I.S.","Babbage A.K.","Babbage S.","Bagguley C.L.","Bailey J.","Banerjee R.","Barker D.J.","Barlow K.F.","Bates K.","Beasley H.","Beasley O.","Bird C.P.","Bray-Allen S.","Brown A.J.","Brown J.Y.","Burford D.","Burrill W.","Burton J.","Carder C.","Carter N.P.","Chapman J.C.","Chen Y.","Clarke G.","Clark S.Y.","Clee C.M.","Clegg S.","Collier R.E.","Corby N.","Crosier M.","Cummings A.T.","Davies J.","Dhami P.","Dunn M.","Dutta I.","Dyer L.W.","Earthrowl M.E.","Faulkner L.","Fleming C.J.","Frankish A.","Frankland J.A.","French L.","Fricker D.G.","Garner P.","Garnett J.","Ghori J.","Gilbert J.G.R.","Glison C.","Grafham D.V.","Gribble S.","Griffiths C.","Griffiths-Jones S.","Grocock R.","Guy J.","Hall R.E.","Hammond S.","Harley J.L.","Harrison E.S.I.","Hart E.A.","Heath P.D.","Henderson C.D.","Hopkins B.L.","Howard P.J.","Howden P.J.","Huckle E.","Johnson C.","Johnson D.","Joy A.A.","Kay M.","Keenan S.","Kershaw J.K.","Kimberley A.M.","King A.","Knights A.","Laird G.K.","Langford C.","Lawlor S.","Leongamornlert D.A.","Leversha M.","Lloyd C.","Lloyd D.M.","Lovell J.","Martin S.","Mashreghi-Mohammadi M.","Matthews L.","McLaren S.","McLay K.E.","McMurray A.","Milne S.","Nickerson T.","Nisbett J.","Nordsiek G.","Pearce A.V.","Peck A.I.","Porter K.M.","Pandian R.","Pelan S.","Phillimore B.","Povey S.","Ramsey Y.","Rand V.","Scharfe M.","Sehra H.K.","Shownkeen R.","Sims S.K.","Skuce C.D.","Smith M.","Steward C.A.","Swarbreck D.","Sycamore N.","Tester J.","Thorpe A.","Tracey A.","Tromans A.","Thomas D.W.","Wall M.","Wallis J.M.","West A.P.","Whitehead S.L.","Willey D.L.","Williams S.A.","Wilming L.","Wray P.W.","Young L.","Ashurst J.L.","Coulson A.","Blocker H.","Durbin R.M.","Sulston J.E.","Hubbard T.","Jackson M.J.","Bentley D.R.","Beck S.","Rogers J.","Dunham I."],"citationCrossReferences":[{"database":"PubMed","id":"15164053"},{"database":"DOI","id":"10.1038/nature02465"}],"title":"DNA sequence and analysis of human chromosome 9.","publicationDate":"2004","journal":"Nature","firstPage":"369","lastPage":"374","volume":"429"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3)"]},{"referenceNumber":4,"citation":{"id":"20603078","citationType":"journal article","authors":["Bergamin E.","Hallock P.T.","Burden S.J.","Hubbard S.R."],"citationCrossReferences":[{"database":"PubMed","id":"20603078"},{"database":"DOI","id":"10.1016/j.molcel.2010.06.007"}],"title":"The cytoplasmic adaptor protein Dok7 activates the receptor tyrosine kinase MuSK via dimerization.","publicationDate":"2010","journal":"Mol. Cell","firstPage":"100","lastPage":"109","volume":"39"},"referencePositions":["INTERACTION WITH DOK7"]},{"referenceNumber":5,"citation":{"id":"20596523","citationType":"journal article","authors":["Del Rincon S.V.","Rogers J.","Widschwendter M.","Sun D.","Sieburg H.B.","Spruck C."],"citationCrossReferences":[{"database":"PubMed","id":"20596523"},{"database":"DOI","id":"10.1371/journal.pone.0011332"}],"title":"Development and validation of a method for profiling post-translational modification activities using protein microarrays.","publicationDate":"2010","journal":"PLoS ONE","firstPage":"E11332","lastPage":"E11332","volume":"5"},"referencePositions":["NEDDYLATION"]},{"referenceNumber":6,"citation":{"id":"25029443","citationType":"journal article","authors":["Bainbridge T.W.","DeAlmeida V.I.","Izrael-Tomasevic A.","Chalouni C.","Pan B.","Goldsmith J.","Schoen A.P.","Quinones G.A.","Kelly R.","Lill J.R.","Sandoval W.","Costa M.","Polakis P.","Arnott D.","Rubinfeld B.","Ernst J.A."],"citationCrossReferences":[{"database":"PubMed","id":"25029443"},{"database":"DOI","id":"10.1371/journal.pone.0102695"}],"title":"Evolutionary divergence in the catalytic activity of the CAM-1, ROR1 and ROR2 kinase domains.","publicationDate":"2014","journal":"PLoS ONE","firstPage":"E102695","lastPage":"E102695","volume":"9"},"referencePositions":["CATALYTIC ACTIVITY","COFACTOR","PHOSPHORYLATION","MUTAGENESIS OF GLY-584; LYS-609 AND ASP-743"]},{"referenceNumber":7,"citation":{"id":"15496425","citationType":"journal article","authors":["Chevessier F.","Faraut B.","Ravel-Chapuis A.","Richard P.","Gaudon K.","Bauche S.","Prioleau C.","Herbst R.","Goillot E.","Ioos C.","Azulay J.-P.","Attarian S.","Leroy J.-P.","Fournier E.","Legay C.","Schaeffer L.","Koenig J.","Fardeau M.","Eymard B.","Pouget J.","Hantai D."],"citationCrossReferences":[{"database":"PubMed","id":"15496425"},{"database":"DOI","id":"10.1093/hmg/ddh333"}],"title":"MUSK, a new target for mutations causing congenital myasthenic syndrome.","publicationDate":"2004","journal":"Hum. Mol. Genet.","firstPage":"3229","lastPage":"3240","volume":"13"},"referencePositions":["VARIANT CMS9 MET-790","INVOLVEMENT IN CMS9"]},{"referenceNumber":8,"citation":{"id":"17344846","citationType":"journal article","authors":["Greenman C.","Stephens P.","Smith R.","Dalgliesh G.L.","Hunter C.","Bignell G.","Davies H.","Teague J.","Butler A.","Stevens C.","Edkins S.","O'Meara S.","Vastrik I.","Schmidt E.E.","Avis T.","Barthorpe S.","Bhamra G.","Buck G.","Choudhury B.","Clements J.","Cole J.","Dicks E.","Forbes S.","Gray K.","Halliday K.","Harrison R.","Hills K.","Hinton J.","Jenkinson A.","Jones D.","Menzies A.","Mironenko T.","Perry J.","Raine K.","Richardson D.","Shepherd R.","Small A.","Tofts C.","Varian J.","Webb T.","West S.","Widaa S.","Yates A.","Cahill D.P.","Louis D.N.","Goldstraw P.","Nicholson A.G.","Brasseur F.","Looijenga L.","Weber B.L.","Chiew Y.-E.","DeFazio A.","Greaves M.F.","Green A.R.","Campbell P.","Birney E.","Easton D.F.","Chenevix-Trench G.","Tan M.-H.","Khoo S.K.","Teh B.T.","Yuen S.T.","Leung S.Y.","Wooster R.","Futreal P.A.","Stratton M.R."],"citationCrossReferences":[{"database":"PubMed","id":"17344846"},{"database":"DOI","id":"10.1038/nature05610"}],"title":"Patterns of somatic mutation in human cancer genomes.","publicationDate":"2007","journal":"Nature","firstPage":"153","lastPage":"158","volume":"446"},"referencePositions":["VARIANTS [LARGE SCALE ANALYSIS] GLY-27; MET-100; GLU-107; GLY-159; SER-222; ILE-413; PHE-629; ALA-644; SER-664; LEU-696; ASP-782; SER-819; LEU-829 AND HIS-858"]},{"referenceNumber":9,"citation":{"id":"19949040","citationType":"journal article","authors":["Mihaylova V.","Salih M.A.","Mukhtar M.M.","Abuzeid H.A.","El-Sadig S.M.","von der Hagen M.","Huebner A.","Nurnberg G.","Abicht A.","Muller J.S.","Lochmuller H.","Guergueltcheva V."],"citationCrossReferences":[{"database":"PubMed","id":"19949040"},{"database":"DOI","id":"10.1212/wnl.0b013e3181c3fce9"}],"title":"Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes.","publicationDate":"2009","journal":"Neurology","firstPage":"1926","lastPage":"1928","volume":"73"},"referencePositions":["VARIANT CMS9 ARG-344"]},{"referenceNumber":10,"citation":{"id":"20371544","citationType":"journal article","authors":["Maselli R.A.","Arredondo J.","Cagney O.","Ng J.J.","Anderson J.A.","Williams C.","Gerke B.J.","Soliven B.","Wollmann R.L."],"citationCrossReferences":[{"database":"PubMed","id":"20371544"},{"database":"DOI","id":"10.1093/hmg/ddq110"}],"title":"Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction.","publicationDate":"2010","journal":"Hum. Mol. Genet.","firstPage":"2370","lastPage":"2379","volume":"19"},"referencePositions":["VARIANTS CMS9 ILE-605 AND VAL-727","CHARACTERIZATION OF VARIANTS CMS9 ILE-605 AND VAL-727"]},{"referenceNumber":11,"citation":{"id":"23326516","citationType":"journal article","authors":["Ben Ammar A.","Soltanzadeh P.","Bauche S.","Richard P.","Goillot E.","Herbst R.","Gaudon K.","Huze C.","Schaeffer L.","Yamanashi Y.","Higuchi O.","Taly A.","Koenig J.","Leroy J.P.","Hentati F.","Najmabadi H.","Kahrizi K.","Ilkhani M.","Fardeau M.","Eymard B.","Hantai D."],"citationCrossReferences":[{"database":"PubMed","id":"23326516"},{"database":"DOI","id":"10.1371/journal.pone.0053826"}],"title":"A mutation causes MuSK reduced sensitivity to agrin and congenital myasthenia.","publicationDate":"2013","journal":"PLoS ONE","firstPage":"E53826","lastPage":"E53826","volume":"8"},"referencePositions":["VARIANT CMS9 VAL-835","SUBCELLULAR LOCATION"]},{"referenceNumber":12,"citation":{"id":"25537362","citationType":"journal article","authors":["Tan-Sindhunata M.B.","Mathijssen I.B.","Smit M.","Baas F.","de Vries J.I.","van der Voorn J.P.","Kluijt I.","Hagen M.A.","Blom E.W.","Sistermans E.","Meijers-Heijboer H.","Waisfisz Q.","Weiss M.M.","Groffen A.J."],"citationCrossReferences":[{"database":"PubMed","id":"25537362"},{"database":"DOI","id":"10.1038/ejhg.2014.273"}],"title":"Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.","publicationDate":"2015","journal":"Eur. J. Hum. Genet.","firstPage":"1151","lastPage":"1157","volume":"23"},"referencePositions":["VARIANT FADS1 THR-575","INVOLVEMENT IN FADS1","CHARACTERIZATION OF VARIANT FADS1 THR-575","FUNCTION"]},{"referenceNumber":13,"citation":{"id":"24183479","citationType":"journal article","authors":["Gallenmuller C.","Muller-Felber W.","Dusl M.","Stucka R.","Guergueltcheva V.","Blaschek A.","von der Hagen M.","Huebner A.","Muller J.S.","Lochmuller H.","Abicht A."],"citationCrossReferences":[{"database":"PubMed","id":"24183479"},{"database":"DOI","id":"10.1016/j.nmd.2013.08.002"}],"title":"Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.","publicationDate":"2014","journal":"Neuromuscul. Disord.","firstPage":"31","lastPage":"35","volume":"24"},"referencePositions":["VARIANT CMS9 GLU-38"]},{"referenceNumber":14,"citation":{"id":"25612909","citationType":"journal article","authors":["Wilbe M.","Ekvall S.","Eurenius K.","Ericson K.","Casar-Borota O.","Klar J.","Dahl N.","Ameur A.","Anneren G.","Bondeson M.L."],"citationCrossReferences":[{"database":"PubMed","id":"25612909"},{"database":"DOI","id":"10.1136/jmedgenet-2014-102730"}],"title":"MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).","publicationDate":"2015","journal":"J. Med. Genet.","firstPage":"195","lastPage":"202","volume":"52"},"referencePositions":["INVOLVEMENT IN FADS1"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AF006464","properties":[{"key":"ProteinId","value":"AAB63044.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL157881","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"AL513328","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC109098","properties":[{"key":"ProteinId","value":"AAI09099.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC109099","properties":[{"key":"ProteinId","value":"AAI09100.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS48005.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O15146-1"},{"database":"CCDS","id":"CCDS75874.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O15146-2"},{"database":"RefSeq","id":"NP_001159752.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001166280.2"}],"isoformId":"O15146-2"},{"database":"RefSeq","id":"NP_001159753.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001166281.2"}],"isoformId":"O15146-3"},{"database":"RefSeq","id":"NP_005583.1","properties":[{"key":"NucleotideSequenceId","value":"NM_005592.4"}],"isoformId":"O15146-1"},{"database":"PDB","id":"8S9P","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.80 A"},{"key":"Chains","value":"C=1-869"}]},{"database":"PDB","id":"9LGG","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"2.69 A"},{"key":"Chains","value":"A/B/C/D=210-453"}]},{"database":"PDBsum","id":"8S9P","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"9LGG","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-40241","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"110679","properties":[{"key":"Interactions","value":"82"}]},{"database":"CORUM","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"O15146","properties":[{"key":"Number of interactors","value":"58"}]},{"database":"IntAct","id":"O15146","properties":[{"key":"Interactions","value":"68"}]},{"database":"MINT","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"NDEx","id":"IQUERY-CP-MUSK","properties":[{"key":"Evidences","value":"5 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000363571","properties":[{"key":"Description","value":"-"}]},{"database":"BindingDB","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"ChEMBL","id":"CHEMBL5684","properties":[{"key":"Description","value":"-"}]},{"database":"DrugBank","id":"DB12010","properties":[{"key":"GenericName","value":"Fostamatinib"}]},{"database":"DrugCentral","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"GuidetoPHARMACOLOGY","id":"1847","properties":[{"key":"Description","value":"-"}]},{"database":"TCDB","id":"8.A.23.1.29","properties":[{"key":"FamilyName","value":"the basigin (basigin) family"}]},{"database":"GlyCosmos","id":"O15146","properties":[{"key":"glycosylation","value":"2 sites, No reported glycans"}]},{"database":"GlyGen","id":"O15146","properties":[{"key":"glycosylation","value":"4 sites, 1 O-linked glycan (1 site)"}]},{"database":"iPTMnet","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"MUSK","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000363571","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"29502","properties":[{"key":"antibodies","value":"479 antibodies from 34 providers"}]},{"database":"DNASU","id":"4593","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000189978.10","properties":[{"key":"ProteinId","value":"ENSP00000189978.6"},{"key":"GeneId","value":"ENSG00000030304.15"}],"isoformId":"O15146-2"},{"database":"Ensembl","id":"ENST00000374448.9","properties":[{"key":"ProteinId","value":"ENSP00000363571.4"},{"key":"GeneId","value":"ENSG00000030304.15"}],"isoformId":"O15146-1"},{"database":"GeneID","id":"4593","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:4593","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000374448.9","properties":[{"key":"ProteinId","value":"ENSP00000363571.4"},{"key":"RefSeqNucleotideId","value":"NM_005592.4"},{"key":"RefSeqProteinId","value":"NP_005583.1"}]},{"database":"UCSC","id":"uc064vai.1","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"O15146-1"},{"database":"AGR","id":"HGNC:7525","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA31326","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"4593","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"4593","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"MUSK","properties":[{"key":"Description","value":"-"}]},{"database":"GeneReviews","id":"MUSK","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:7525","properties":[{"key":"GeneName","value":"MUSK"}]},{"database":"HPA","id":"ENSG00000030304","properties":[{"key":"ExpressionPatterns","value":"Tissue enhanced (intestine, skeletal muscle)"}]},{"database":"MalaCards","id":"MUSK","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"208150","properties":[{"key":"Type","value":"phenotype"}]},{"database":"MIM","id":"601296","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"616325","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000030304","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"716825","properties":[{"key":"Disease","value":"Congenital myasthenic syndrome due to defects in endplate development and maintenance"}]},{"database":"Orphanet","id":"994","properties":[{"key":"Disease","value":"Fetal akinesia deformation sequence"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000030304","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG1026","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000158226","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_000288_30_5_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"KNNHPIM","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"3256376at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"O15146","properties":[{"key":"Number of GO annotations","value":"5 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-3000178","properties":[{"key":"PathwayName","value":"ECM proteoglycans"}]},{"database":"SignaLink","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"O15146","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000030304","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"4593","properties":[{"key":"hits","value":"8 hits in 1181 CRISPR screens"}]},{"database":"ChiTaRS","id":"MUSK","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"4593","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"O15146","properties":[{"key":"DevelopmentLevel","value":"Tchem"}]},{"database":"PRO","id":"PR:O15146","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 9"}]},{"database":"RNAct","id":"O15146","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000030304","properties":[{"key":"ExpressionPatterns","value":"Expressed in male germ line stem cell (sensu Vertebrata) in testis and 106 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"O15146","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0031594","properties":[{"key":"GoTerm","value":"C:neuromuscular junction"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0005886","properties":[{"key":"GoTerm","value":"C:plasma membrane"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0045211","properties":[{"key":"GoTerm","value":"C:postsynaptic membrane"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0043235","properties":[{"key":"GoTerm","value":"C:receptor complex"},{"key":"GoEvidenceType","value":"IDA:MGI"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"23382219"}]},{"database":"GO","id":"GO:0005524","properties":[{"key":"GoTerm","value":"F:ATP binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-KW"}]},{"database":"GO","id":"GO:0046872","properties":[{"key":"GoTerm","value":"F:metal ion binding"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-KW"}]},{"database":"GO","id":"GO:0004713","properties":[{"key":"GoTerm","value":"F:protein tyrosine kinase activity"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0004714","properties":[{"key":"GoTerm","value":"F:transmembrane receptor protein tyrosine kinase activity"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0017147","properties":[{"key":"GoTerm","value":"F:Wnt-protein binding"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0030154","properties":[{"key":"GoTerm","value":"P:cell differentiation"},{"key":"GoEvidenceType","value":"IEA:UniProtKB-KW"}]},{"database":"GO","id":"GO:0007169","properties":[{"key":"GoTerm","value":"P:cell surface receptor protein tyrosine kinase signaling pathway"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0007613","properties":[{"key":"GoTerm","value":"P:memory"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0007528","properties":[{"key":"GoTerm","value":"P:neuromuscular junction development"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"25537362"}]},{"database":"GO","id":"GO:0010628","properties":[{"key":"GoTerm","value":"P:positive regulation of gene expression"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:2000541","properties":[{"key":"GoTerm","value":"P:positive regulation of protein geranylgeranylation"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0001934","properties":[{"key":"GoTerm","value":"P:positive regulation of protein phosphorylation"},{"key":"GoEvidenceType","value":"IMP:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000315","source":"PubMed","id":"25537362"}]},{"database":"GO","id":"GO:0008582","properties":[{"key":"GoTerm","value":"P:regulation of synaptic assembly at neuromuscular junction"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"GO","id":"GO:0071340","properties":[{"key":"GoTerm","value":"P:skeletal muscle acetylcholine-gated channel clustering"},{"key":"GoEvidenceType","value":"ISS:UniProtKB"}]},{"database":"CDD","id":"cd20970","properties":[{"key":"EntryName","value":"IgI_1_MuSK"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd20968","properties":[{"key":"EntryName","value":"IgI_2_MuSK"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd05050","properties":[{"key":"EntryName","value":"PTKc_Musk"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"1.10.510.10:FF:000176","properties":[{"key":"EntryName","value":"Muscle, skeletal receptor tyrosine protein kinase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"2.60.40.10:FF:000260","properties":[{"key":"EntryName","value":"Muscle, skeletal receptor tyrosine protein kinase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"2.60.40.10:FF:000322","properties":[{"key":"EntryName","value":"Muscle, skeletal receptor tyrosine protein kinase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"2.60.40.10:FF:000409","properties":[{"key":"EntryName","value":"Muscle, skeletal receptor tyrosine protein kinase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.30.200.20:FF:000159","properties":[{"key":"EntryName","value":"muscle, skeletal receptor tyrosine-protein kinase"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"1.10.2000.10:FF:000009","properties":[{"key":"EntryName","value":"Muscle, skeletal, receptor tyrosine kinase"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"1.10.2000.10","properties":[{"key":"EntryName","value":"Frizzled cysteine-rich domain"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"2.60.40.10","properties":[{"key":"EntryName","value":"Immunoglobulins"},{"key":"MatchStatus","value":"3"}]},{"database":"Gene3D","id":"3.30.200.20","properties":[{"key":"EntryName","value":"Phosphorylase Kinase, domain 1"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"1.10.510.10","properties":[{"key":"EntryName","value":"Transferase(Phosphotransferase) domain 1"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR020067","properties":[{"key":"EntryName","value":"Frizzled_dom"}]},{"database":"InterPro","id":"IPR036790","properties":[{"key":"EntryName","value":"Frizzled_dom_sf"}]},{"database":"InterPro","id":"IPR007110","properties":[{"key":"EntryName","value":"Ig-like_dom"}]},{"database":"InterPro","id":"IPR036179","properties":[{"key":"EntryName","value":"Ig-like_dom_sf"}]},{"database":"InterPro","id":"IPR013783","properties":[{"key":"EntryName","value":"Ig-like_fold"}]},{"database":"InterPro","id":"IPR013098","properties":[{"key":"EntryName","value":"Ig_I-set"}]},{"database":"InterPro","id":"IPR003599","properties":[{"key":"EntryName","value":"Ig_sub"}]},{"database":"InterPro","id":"IPR003598","properties":[{"key":"EntryName","value":"Ig_sub2"}]},{"database":"InterPro","id":"IPR011009","properties":[{"key":"EntryName","value":"Kinase-like_dom_sf"}]},{"database":"InterPro","id":"IPR000719","properties":[{"key":"EntryName","value":"Prot_kinase_dom"}]},{"database":"InterPro","id":"IPR017441","properties":[{"key":"EntryName","value":"Protein_kinase_ATP_BS"}]},{"database":"InterPro","id":"IPR050122","properties":[{"key":"EntryName","value":"RTK"}]},{"database":"InterPro","id":"IPR001245","properties":[{"key":"EntryName","value":"Ser-Thr/Tyr_kinase_cat_dom"}]},{"database":"InterPro","id":"IPR008266","properties":[{"key":"EntryName","value":"Tyr_kinase_AS"}]},{"database":"InterPro","id":"IPR020635","properties":[{"key":"EntryName","value":"Tyr_kinase_cat_dom"}]},{"database":"PANTHER","id":"PTHR24416:SF317","properties":[{"key":"EntryName","value":"MUSCLE, SKELETAL RECEPTOR TYROSINE-PROTEIN KINASE"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR24416","properties":[{"key":"EntryName","value":"TYROSINE-PROTEIN KINASE RECEPTOR"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF01392","properties":[{"key":"EntryName","value":"Fz"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF07679","properties":[{"key":"EntryName","value":"I-set"},{"key":"MatchStatus","value":"2"}]},{"database":"Pfam","id":"PF13927","properties":[{"key":"EntryName","value":"Ig_3"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF07714","properties":[{"key":"EntryName","value":"PK_Tyr_Ser-Thr"},{"key":"MatchStatus","value":"1"}]},{"database":"PIRSF","id":"PIRSF000615","properties":[{"key":"EntryName","value":"TyrPK_CSF1-R"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR00109","properties":[{"key":"EntryName","value":"TYRKINASE"}]},{"database":"SMART","id":"SM00409","properties":[{"key":"EntryName","value":"IG"},{"key":"MatchStatus","value":"3"}]},{"database":"SMART","id":"SM00408","properties":[{"key":"EntryName","value":"IGc2"},{"key":"MatchStatus","value":"3"}]},{"database":"SMART","id":"SM00219","properties":[{"key":"EntryName","value":"TyrKc"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF48726","properties":[{"key":"EntryName","value":"Immunoglobulin"},{"key":"MatchStatus","value":"3"}]},{"database":"SUPFAM","id":"SSF56112","properties":[{"key":"EntryName","value":"Protein kinase-like (PK-like)"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50038","properties":[{"key":"EntryName","value":"FZ"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50835","properties":[{"key":"EntryName","value":"IG_LIKE"},{"key":"MatchStatus","value":"3"}]},{"database":"PROSITE","id":"PS00107","properties":[{"key":"EntryName","value":"PROTEIN_KINASE_ATP"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50011","properties":[{"key":"EntryName","value":"PROTEIN_KINASE_DOM"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS00109","properties":[{"key":"EntryName","value":"PROTEIN_KINASE_TYR"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MRELVNIPLVHILTLVAFSGTEKLPKAPVITTPLETVDALVEEVATFMCAVESYPQPEISWTRNKILIKLFDTRYSIRENGQLLTILSVEDSDDGIYCCTANNGVGGAVESCGALQVKMKPKITRPPINVKIIEGLKAVLPCTTMGNPKPSVSWIKGDSPLRENSRIAVLESGSLRIHNVQKEDAGQYRCVAKNSLGTAYSKVVKLEVEVFARILRAPESHNVTFGSFVTLHCTATGIPVPTITWIENGNAVSSGSIQESVKDRVIDSRLQLFITKPGLYTCIATNKHGEKFSTAKAAATISIAEWSKPQKDNKGYCAQYRGEVCNAVLAKDALVFLNTSYADPEEAQELLVHTAWNELKVVSPVCRPAAEALLCNHIFQECSPGVVPTPIPICREYCLAVKELFCAKEWLVMEEKTHRGLYRSEMHLLSVPECSKLPSMHWDPTACARLPHLDYNKENLKTFPPMTSSKPSVDIPNLPSSSSSSFSVSPTYSMTVIISIMSSFAIFVLLTITTLYCCRRRKQWKNKKRESAAVTLTTLPSELLLDRLHPNPMYQRMPLLLNPKLLSLEYPRNNIEYVRDIGEGAFGRVFQARAPGLLPYEPFTMVAVKMLKEEASADMQADFQREAALMAEFDNPNIVKLLGVCAVGKPMCLLFEYMAYGDLNEFLRSMSPHTVCSLSHSDLSMRAQVSSPGPPPLSCAEQLCIARQVAAGMAYLSERKFVHRDLATRNCLVGENMVVKIADFGLSRNIYSADYYKANENDAIPIRWMPPESIFYNRYTTESDVWAYGVVLWEIFSYGLQPYYGMAHEEVIYYVRDGNILSCPENCPVELYNLMRLCWSKLPADRPSFTSIHRILERMCERAEGTVSV","length":869,"molWeight":97056,"crc64":"3DDC20E179FA010C","md5":"82D558B6B30ED4E47DFE1E69AFE04BC8"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"CATALYTIC ACTIVITY":1,"COFACTOR":1,"ACTIVITY REGULATION":1,"SUBUNIT":1,"INTERACTION":3,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"PTM":3,"DISEASE":2,"SIMILARITY":1,"WEB RESOURCE":1},"countByFeatureType":{"Signal":1,"Chain":1,"Topological domain":2,"Transmembrane":1,"Domain":5,"Active site":1,"Binding site":2,"Modified residue":4,"Glycosylation":2,"Disulfide bond":9,"Alternative sequence":3,"Natural variant":21,"Mutagenesis":3},"uniParcId":"UPI000006D2F7"}}