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DOK7 docking proteins are enzymatically inert adaptor or scaffolding proteins. They provide a docking platform for the assembly of multimolecular signaling complexes. Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK. Interacts with the cytoplasmic part of MUSK. Defects in DOK7 are the cause of congenital myasthenic syndrome type 1B or CMS1B. Three isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Activator; Adaptor/scaffold
Chromosomal Location of Human Ortholog: 4p16.3
Cellular Component: cell junction; plasma membrane; synapse
Molecular Function: insulin receptor binding; lipid binding; protein kinase binding
Disease: Fetal Akinesia Deformation Sequence; Myasthenia, Limb-girdle, Familial
Reference #:  Q18PE1 (UniProtKB)
Alt. Names/Synonyms: C4orf25; CMS1B; docking protein 7; DOK7; Downstream of tyrosine kinase 7; FLJ33718; FLJ39137; FLJ90556; Protein Dok-7
Gene Symbols: DOK7
Molecular weight: 53,097 Da
Basal Isoelectric point: 6.43  Predict pI for various phosphorylation states
CST Pathways:  ErbB/HER Signaling
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