Alternatively spliced isoforms of neurofascin may therefore balance dynamic and stabilizing mechanisms of the CNS (PMID: 2306302)
identification
nb exons
type
bp
product
Protein
kDa
AA
specific expression
Year
Pubmed
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)
System
Organ level 1
Organ level 2
Organ level 3
Organ level 4
Level
Pubmed
Species
Stage
Rna symbol
Digestive
intestine
small intestine
highly
Hearing/Equilibrium
ear
highly
Nervous
brain
highly
tissue
System
Tissue
Tissue level 1
Tissue level 2
Level
Pubmed
Species
Stage
Rna symbol
Muscular
striatum
skeletal
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)
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