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FLASH GENE
Symbol NGEF contributors: mct - updated : 20-11-2010
HGNC name neuronal guanine nucleotide exchange factor
HGNC id 7807
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
15 - 3184 82.5 710 - 2000 10777665
13 - 2812 - 618 - 2000 10777665
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
life cycle
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a pleckstrin homology (PH) domain
  • a DBL homology (DH) interacting with N-terminal helices to exclude and prevent activation of Rho GTPases
  • C-terminal SH3 domain
    • HOMOLOGY
    interspecies ortholog to murine Ngef
    intraspecies homolog to TIM
    Homologene
    FAMILY
  • Dbl family of oncogene
    • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • plays a role in axon guidance and is regulated by a switch mechanism that is specifically tailored to control Eph-mediated growth cone collapse
  • essential role in the maturation of AChR (acetylcholine receptor) clusters
  • indispensible role in regulating the structural maturation and neurotransmission of neuromuscular junctions
    • CELLULAR PROCESS cell cycle, checkpoint
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Rho GTPases (RAGs, ARHs, CDC42)
  • interacts with EPHA4 and mediate the effect of EPHA on the activity of Rho GTPases, key regulators of the cytoskeleton and axon guidance
    • cell & other
    REGULATION
    activated by tyrosine phosphorylation of a blocking helix
    Other regulated by fibroblast growth factor receptor-mediated tyrosine phosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Adult ephexin1(-/-) mice exhibit severe muscle weakness and impaired synaptic transmission at the neuromuscular junctions