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FLASH GENE
Symbol NGEF contributors: mct - updated : 20-11-2010
HGNC name neuronal guanine nucleotide exchange factor
HGNC id 7807
DNA
TYPE functioning gene
STRUCTURE 134.55 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence   triplet
text structure (CAA)n
MAPPING cloned Y linked N status provisional
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