NFASC Gene Summary [Human]
This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]
Details
| Type | Processed Transcript |
| Official Symbol | NFASC |
| Official Name | neurofascin [Source:HGNC Symbol;Acc:HGNC:29866] |
| Ensembl ID | ENSG00000163531 |
| Bio databases IDs | |
| Aliases | neurofascin |
| Synonyms | D430023G06Rik, mKIAA0756, NEDCPMD, neurofascin, NF, NFASC isoform 2, NRCAML |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NFASC often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- immunoglobulin domain
- cell adhesion molecule binding
- ectodomain
- Immunoglobulin I-set domain
- protein domain specific binding
- protein binding
- Fibronectin type 3 domain
- fibronectin III-like domain
- ankyrin binding domain
- cytoplasmic domain
- FN3
- transmembrane domain
- Immunoglobulin like
- immunoglobulin-like protein domain
- intracellular domain
- mucin domain
- Bravo-like intracellular region
- tyrosine phosphorylation site
- Immunoglobulin V-set domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- COVID-19
- myopia
- Alzheimer disease
- weight loss
- essential tremor
- hereditary disorder
- schizophrenia
- paralysis
- conotruncal heart malformations
- neurodevelopmental disorder with central and peripheral motor dysfunction
role in cell
- migration
- expression in
- binding in
- size
- formation in
- quantity
- formation
- discharge
- organization
- disorganization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- myelin enriched fraction
- myelin-derived rafts
- axon component
- axon initial segment like process
- cell surface
- somatodendritic region
- cellular membrane
- intercellular junctions
- secretory granule membrane
- nodes of Ranvier
- axo-glial junction
- axonal membrane
- paranodes
- paranodal junctions
- axon initial segments
- myelin sheath
- mesaxons
- glial cell projections
- gap junctions
- microvilli
- perikaryon
- axons
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NFASC gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- peripheral nervous system development
- axon guidance
- myelination
- brain development
Cellular Component
Where in the cell the gene product is active
- initial segment
- focal adhesion
- paranodal junction
- node of Ranvier
- plasma membrane
- axon
Molecular Function
What the gene product does at the molecular level
- protein binding