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FLASH GENE
Symbol NFASC contributors: mct/npt - updated : 23-11-2016
HGNC name neurofascin homolog (chicken)
HGNC id 29866
Location 1q32.1      Physical location : 204.797.781 - 204.991.949
Synonym name neurofascin, murine Nfasc homolog
Synonym symbol(s) KIAA0756, NFSAC, NRCAML, FLJ46866, DKFZp686P2250, NF155, NF, NRCAML
DNA
TYPE functioning gene
SPECIAL FEATURE head to head
STRUCTURE 194.17 kb     27 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
MGC5457 1q32.1 hypothetical protein MGC5457 LAX 1q32.1 hypothetical protein FLJ20340 KIAA0663 1q32.1 hypothetical protein FLJ20340 SNRPE 1q32 small nuclear ribonucleoprotein polypeptide E LOC391155 1 similar to KRT8 protein FLJ40343 1q32.1 hypothetical protein FLJ40343 SOX13 1q31.3-q32.1 SRY (sex determining region Y)-box 13 FLJ10761 1q32.1 putative ethanolamine kinase REN 1q32 renin KISS1 1q32 KiSS-1 metastasis-suppressor FLJ42654 1q32.1 FLJ42654 protein PEPP3 1q32.1 phosphoinositol 3-phosphate-binding protein-3 PPP1R15B 1q32.1 protein phosphatase 1, regulatory (inhibitor) subunit 15B PIK3C2B 1q32 phosphoinositide-3-kinase, class 2, beta polypeptide MDM4 1q32 Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) GAC1 NFASC 1q32.1 Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse) CNTN2 1q32.1 contactin 2 (axonal) LOC388730 1 similar to RIKEN cDNA 4930429O20 RBBP5 1q32 retinoblastoma binding protein 5 KIAA0472 HUCEP11 1q32.1 retinoblastoma binding protein 5 SNARK 1q32 Homo sapiens likely ortholog of rat SNF1/AMP-activated protein kinase (SNARK), mRNA. FLJ10748 1q32.1 hypothetical protein FLJ10748 LOC93273 1q32.1 hypothetical protein LOC93273 PCTK3 1q31-q32 PCTAIRE protein kinase 3 DKFZp761N1114 1q32.1 hypothetical protein DKFZp761N1114 ELK4 1q32 ELK4, ETS-domain protein (SRF accessory protein 1) Prostein 1q32.1 prostein protein NUCKS 1q31.1 prostein protein RAB7L1 1q32 RAB7, member RAS oncogene family-like 1 SLC41A1 1q32.1 solute carrier family 41, member 1 LOC388731 1 hypothetical gene supported by AK097788 FLJ32569 1q32.1 hypothetical protein FLJ32569 SLC26A9 1q31-q32 solute carrier family 26, member 9
RNA
TRANSCRIPTS type messenger
text
  • Alternatively spliced isoforms of neurofascin may therefore balance dynamic and stabilizing mechanisms of the CNS (PMID: 2306302)
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    27 - 10138 - 1169 - 2007 17846150
  • includes the third fibronectin type 3 (FNIII) repeat, lacks the mucin-like domain, and has several differences in the N-terminal and central regions, compared to isoform 1
  • 15 - 2509 - 613 - 2007 17846150
  • has a substantially shorter and distinct C-terminus that lacks the fibronectin domains, compared to isoform 1
  • 28 - 10153 - 1174 - 2007 17846150
  • including the third fibronectin type 3 (FNIII) repeat, lacking the mucin-like domain, and having several differences in the N-terminal and central regions
  • 27 - 9960 - 1189 encoded at the paranode (PMID: 24719087) 2007 17846150
  • variant NF155
  • including the third fibronectin type 3 (FNIII) repeat, lacking the mucin-like domain, and having several differences near the N-terminus
  • is responsible for axoglial junction formation and maintenance (PMID: 27053216)
  • 30 - 10351 - 1240 encoded at the node (PMID: 24719087) 2007 17846150
  • variant NF186, lacking the third fibronectin type 3 (FNIII) repeat and including the mucin-like domain
  • in the more developed nervous system, NF166 is replaced by NF186, which is inhibitory for neurite outgrowth
  • linked to the cortical actin cytoskeleton via ankyrinG
  • - - - - - - 2007 17846150
  • also called NF166
  • embryonal neurofascin NF166 is important for neurite outgrowth and guidance
  • 16 - 2527 - 619 - 2007 17846150
  • has a substantially shorter and distinct C-terminus that lacks the fibronectin domains
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
    Hearing/Equilibriumear   highly
    Nervousbrain   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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