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FLASH GENE
Symbol DOCK7 contributors: shn/pgu - updated : 19-06-2013
HGNC name dedicator of cytokinesis 7
HGNC id 19190
Corresponding disease
EECB epileptic encephalopathy, with cortical blindness
Location 1p31.3      Physical location : 62.920.397 - 63.153.969
Synonym symbol(s) KIAA1771, ZIR2
DNA
TYPE functioning gene
STRUCTURE 233.57 kb     49 Exon(s)
MAPPING cloned Y linked N status provisional
Map pter - D1S246 - D1S230 - DOCK7 - D1S2835 - D1S2638 - cen
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
49 - 7063 - 2109 a Rac GTPase activator that is asymmetrically distributed in unpolarized hippocampal neurons and selectively expressed in the axon 2002 12432077
- - 7193 - 2129 - 2002 12432077
- - 7106 - 2100 - 2002 12432077
- - 7100 - 2098 - 2002 12432077
- - 2691 - 632 - 2002 12432077
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrainforebraincerebral cortex   Homo sapiens
 brainlimbic systemhippocampus   Homo sapiens
Reproductivefemale systemovary   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousneuron Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
Text transcribed at high levels in the developing brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a pleckstrin homology domain
  • a guanine nucleotide exchange domain, DHR2 (for DOCK homology region 2), is a potent GEF for prenylated CDC42 and RAC1
  • a DHR1 domain, which is predicted to bind phospholipids and thus facilitate recruitment to the plasma membrane, and a catalytic DHR2 domain, which positively regulates RAC1 and CDC 42 by promoting the exchange of GDP for GTP
  • HOMOLOGY
    interspecies ortholog to Dock7, Mus musculus
    ortholog to dock7, Danio rerio
    ortholog to Dock7, Rattus norvegicus
    ortholog to DOCK7, Pan troglodytes
    Homologene
    FAMILY DOCK180-related protein superfamily
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • regulates neuronal polarity through local phosphorylation of stathmin/Op18
  • induces multiple axon formation when over expressed and
  • prevents axon formation when it is knocked down
  • functions as an intracellular substrate for ErbB2 to promote Schwann cell migration
  • role of DOCK7 in the interplay between Schwann cell migration and myelination
  • signaling through DOCK7 negatively regulates Schwann cell differentiation and the onset of myelination, demonstrating the unexpected role of DOCK7 in the interplay between Schwann cell migration and myelination
  • negative role of DOCK7 in Schwann cell differentiation
  • exerts its effects by antagonizing the microtubule growth-promoting function of the centrosome-associated protein TACC3
  • functions as an essential and downstream regulator of AGER-mediated cellular migration through the formation of dendritic pseudopodia
  • its action may involve the coordinated integration of CDC42/RAC1 signaling in the context of the membrane recruitment of a DOCK7 GEF complex
  • RAC1 guanine nucleotide exchange factor implicated in the genesis and polarization of newborn pyramidal neurons and in the morphological differentiation of GABAergic interneurons in the developing cortex
  • regulator of neuronal development
  • important regulator of microtubule assembly both in the context of neurogenesis and in the establishment of neuronal polarity
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS nervous system
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • TSC1-TSC2 complex
  • NRG1 receptor ERBB2 directly binds and activates DOCK7 by phosphorylating Tyr-1118
  • functions as an intracellular substrate for ERBB2 to promote Schwann cell migration
  • guanine nucleotide exchange factor (GEF) for small GTPases, RAC1 and CDC42, which are the major regulators of actin cytoskeleton
  • MYO6 and DOCK7 colocalized in interphase and dividing cells and interacted (this interaction may help explain a mechanism for MYO6-dependent regulation of actin cytoskeleton organization)
  • DOCK7 interaction with TACC3 controls interkinetic nuclear migration and the genesis of neurons from radial glial progenitor cells during cortical development
  • bound to the AGER cytoplasmic domain and transduced a signal to CDC42, resulting in the formation of abundant highly branched filopodia-like protrusions, dendritic pseudopodia
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EECB
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Knockdown of DOCK7 expression prevents axon formation, whereas overexpression induces formation of multiple axons
  • Mice harbouring mutations in Dock7 gene exhibit generalized hypopigmentation and white-spotting but normal neurological function