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FLASH GENE
Symbol DOK7 contributors: mct - updated : 17-08-2009
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
    DNA
    TYPE functioning gene
    STRUCTURE 31.18 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 16794080
    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
    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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMS1B , MPTLT5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS