NEFL Gene Summary [Human]
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | NEFL |
| Official Name | neurofilament light [Source:HGNC Symbol;Acc:HGNC:7739] |
| Ensembl ID | ENSG00000277586 |
| Bio databases IDs | |
| Aliases | neurofilament light, neurofilament light chain, protein phosphatase 1, regulatory subunit 110 |
| Synonyms | CMT1F, CMT2E, CMTDIG, HAMMR, Neurofilament 68, Neurofilament L, NEUROFILAMENT LIGHT CHAIN, neurofilament, light polypeptide, Neurofilament Triplet L, NF, NF68, NF-L, PPP1R110 |
| 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 NEFL often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Intermediate filament head (DNA binding) region
- protein binding activity, bridging
- enzyme binding
- protein domain specific binding
- protein binding
- identical protein binding
- head domain
- binding protein
- structural constituent of cytoskeleton
- tubulin binding
- tail domain
- Intermediate filament protein
- structural molecule
- rod domain
Pathways
Biological processes and signaling networks where the NEFL gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- Alzheimer disease
- Charcot-Marie-Tooth disease dominant intermediate type G
- Charcot-Marie-Tooth disease axonal type 2e
- Charcot-Marie-Tooth disease
- Huntington disease
- hereditary disorder
- sporadic amyotrophic lateral sclerosis
- bipolar disorder
- Charcot-Marie-Tooth disease axonal type 1f
role in cell
- apoptosis
- proliferation
- cell death
- survival
- movement
- movement in
- accumulation
- number
- transport
- maturation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- soluble fraction
- intermediate filament cytoskeleton
- cytoskeleton
- cellular membrane
- intermediate filaments
- cytosol
- neurofilaments
- neuromuscular junctions
- growth cone
- neurites
- synapse
- axons
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NEFL gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- anterograde axon cargo transport
- locomotion
- intermediate filament polymerization or depolymerization
- intermediate filament organization
- response to toxin
- spinal cord development
- positive regulation of axonogenesis
- motor neuron apoptotic process
- axonogenesis
- regulation of axon diameter
- negative regulation of motor neuron apoptotic process
- regulation of synapse maturation
- peripheral nervous system axon regeneration
- neurofilament bundle assembly
- neurofilament cytoskeleton organization
- hippocampus development
- cerebral cortex development
- microtubule cytoskeleton organization
- response to peptide hormone stimulus
- response to corticosterone stimulus
- protein polymerization
- axon transport of mitochondrion
- retrograde axon cargo transport
- neuromuscular process controlling balance
Cellular Component
Where in the cell the gene product is active
- growth cone
- cytoplasm
- cytosol
- intermediate filament
- neuromuscular junction
- neurofilament
- axon
Molecular Function
What the gene product does at the molecular level
- protein domain specific binding
- identical protein binding
- protein binding
- phospholipase binding
- structural constituent of cytoskeleton
- protein binding, bridging