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FLASH GENE
Symbol DOK7 contributors: mct - updated : 08-07-2015
HGNC name docking protein 7
HGNC id 26594
Corresponding disease
CMS1B congenital myasthenic syndrome, 1B
MPTLT5 multiple pterygium syndrome, lethal type 5
Location 4p16.2      Physical location : 3.465.032 - 3.496.208
Synonym name
  • downstream of tyrosine kinase 7
  • chromosome 4 open reading frame 25
  • Synonym symbol(s) Dok-7, C4orf25, FLJ33718, FLJ39137, FLJ90556, CMS10, CMS1B
    DNA
    TYPE functioning gene
    STRUCTURE 31.17 kb     7 Exon(s)
    regulatory sequence Binding site   transcription factor
    text structure
  • two Sp1 consensus sequences within the 5prime-flanking region are necessary for expression of the DOK7 gene in muscle cells, in the mouse
  • MAPPING cloned Y linked   status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 - 2566 - 504 - 2006
    10 - 2545 - 608 - 2006
    7 - 2572 - 255 - 2006
    - - 2281 - 194 - 2006
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivemouthtongue  highly
     pancreas exocrine   moderately
    Endocrineneuroendocrinepituitary  predominantly
    Lymphoid/Immunespleen   highly
    Nervousbrain   moderately
    Reproductivefemale systemovary  highly
     female systembreastmammary gland moderately
     female systemuterus  moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a pleckstrin homology (PH) responsible of and phosphotyrosine binding (PTB) domains in the N-terminal moiety, both of which are indispensable for MUSK activation in myotubes
  • a Src homology 2 (SH2) domain target motifs in the C-terminal region, and a chromosome region maintenance 1-dependent nuclear export signal (NES) essential for regulating the interaction with MUSK in myotubes
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane,junction
    text concentrated at postsynaptic sites of the neuromuscular junction
    basic FUNCTION
  • being essential for MUSK activation in cultured myotubes
  • MUSK-interacting cytoplasmic protein, playing an essential role for neuromuscular synaptogenesis through its interaction with MUSK
  • essential for maintaining not only the size but also the structural integrity of the end plate
  • MUSK-interacting protein, essential for neuromuscular synaptogenesis, although the mechanisms by which DOK7 regulates MUSK activity and promotes synapse formation have been unclear
  • positively regulates neuromuscular synaptogenesis by controlling MUSK activity, its distribution, and its responsiveness to neural agrin
  • recruited by MUSK, and directly stimulates MUSK kinase activity, through its N-terminal region (
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development , nervous system
    text neuromuscular synaptogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • cytoplasmic activator of muscle-specific receptor-tyrosine kinase (MUSK)
  • directly interacts with the cytoplasmic portion of MUSK and activates the receptor tyrosine kinase, and neural agrin requires DOK7 to activate MUSK
  • interaction with CRK, and CRKL (critical role for CRK and CRKL downstream from DOK7 in presynaptic and postsynaptic differentiation)(
  • cytoplasmic activator of the muscle-specific receptor tyrosine kinase MUSK
  • DOK7, a cytoplasmic adaptor protein, is also required for MUSK activation 9)
  • MUSK activation by DOK7 mildly affects the localization of MUSK on the cell surface but has no effect on the rate of MUSK internalization
  • is essential for activation of the receptor kinase MUSK, which governs NMJ formation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS1B , MPTLT5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS