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FLASH GENE
Symbol NFASC contributors: mct/npt - updated : 23-11-2016
HGNC name neurofascin homolog (chicken)
HGNC id 29866
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • six Ig and five fibronectin-type III-like extracellular domains
  • a single transmembrane segment (TM)
  • a short cytoplasmic tail
  • intracellular domain, which activates FGFR1 for neurite outgrowth
  • whereas the extracellular domain functions as a regulator for FGFR1-dependent signal transduction in the course of development (Kirschbaum 2009)
  • HOMOLOGY
    interspecies homolog to murine Nfasc
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • L1/neurofascin/NgCAM family
  • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • is specifically expressed at the axon initial segment (AIS)
  • basic FUNCTION
  • involved in neurite extension and fasciculation
  • playing a critical early role in clustering of Na+ channels at nodes of Ranvier via interactions with receptors on Schwann cells
  • involved in axon subcellular targeting and synapse formation during neural development
  • important role for cell-cell communication in the nervous system, and regulates many different functions in the brain, suggesting that it functions as a key regulator for both developing and differentiated neural cells (Kirschbaum 2009)
  • NFASC186 optimizes communication between mature neurons by anchoring the key elements of the adult axon initial segment (AIS) complex
  • versatile functional aspects of NFASC interactions pose it at a central position for the shaping and maintenance of neural circuitry and synaptic contacts which are implicated in nervous system disorders
  • is crucially required for the stabilization of axo-axonic synapses
  • has a unique role in node formation because it encodes glial and neuronal isoforms of neurofascin (NFASC155 and NFASC186, respectively) with key functions in assembling the nodal macromolecular complex
  • critical role of the NFASC gene in the function of myelinated axons with further redundancy in the mechanisms required for the formation of this crucial structure in the vertebrate nervous system
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text neural development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with the second PDZ domain of syntenin 1 (SBDCBP)
  • link between FGFR1 and the cell adhesion molecule neurofascin (Kirschbaum 2009)
  • in the peripheral nervous system (PNS), the axoglial contact mediated by the binding of glial GLDN and NRCAM to axonal NFASC186 is crucial for the initial clustering of voltage-gated Na+ channels at the nodes of Ranvier
  • initial clustering of Na(+) channels at heminodes requires glial NRCAM and GLDN, as well as their axonal receptor neurofascin 186 (NFASC186)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • anti-NFASC antibody is frequently present in patients with combined central and peripheral demyelination (CCPD), and recognition of this antibody may be important, because patients with CCPD who are antibody positive respond well to IV immunoglobulin or plasma exchange
  • Therapy target
    ANIMAL & CELL MODELS