Show pageOld revisionsBacklinksFold/unfold allBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ======= NEFL ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: NEFL * **<color #00a2e8>Official Name</color>**: neurofilament light * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4747|4747]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P07196|P07196]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NEFL&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NEFL|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/162280|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. <button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button> <button type='primary' size='sm' modal='GO_terms'>GO Terms</button> <modal id='Pfam_Domains' size='lg' title='Pfam Domains'> |Filament| |Filament head| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |intermediate filament polymerization or depolymerization| |presynaptic intermediate filament cytoskeleton| |response to acrylamide| |postsynaptic intermediate filament cytoskeleton| |neurofilament bundle assembly| |postsynaptic intermediate filament cytoskeleton organization| |structural constituent of postsynaptic intermediate filament cytoskeleton| |regulation of axon diameter| |response to sodium arsenite| |peripheral nervous system axon regeneration| |intermediate filament bundle assembly| |neurofilament| |neurofilament cytoskeleton organization| |cholinergic synapse| |synapse maturation| |axonal transport of mitochondrion| |response to herbicide| |regulation of cell projection size| |postsynaptic cytoskeleton organization| |phospholipase binding| |response to insecticide| |retrograde axonal transport| |response to salt| |response to corticosterone| |mitochondrion transport along microtubule| |establishment of mitochondrion localization, microtubule-mediated| |axon regeneration| |intermediate filament organization| |establishment of mitochondrion localization| |neuron projection regeneration| |response to arsenic-containing substance| |response to mineralocorticoid| |regulation of NMDA receptor activity| |anterograde axonal transport| |mitochondrion localization| |response to axon injury| |intermediate filament cytoskeleton organization| |intermediate filament-based process| |neuromuscular process controlling balance| |axonal transport| |axon cytoplasm| |regulation of glutamate receptor signaling pathway| |axo-dendritic transport| |regulation of neurotransmitter receptor activity| |neuromuscular junction| |protein binding, bridging| |organelle transport along microtubule| |hippocampus development| |Schaffer collateral - CA1 synapse| |positive regulation of axonogenesis| |protein polymerization| |postsynapse organization| |response to antineoplastic agent| |structural constituent of cytoskeleton| |spinal cord development| |neuromuscular process| |limbic system development| |cerebral cortex development| |growth cone| |response to glucocorticoid| |negative regulation of neuron apoptotic process| |positive regulation of cell morphogenesis involved in differentiation| |transport along microtubule| |regeneration| |response to corticosteroid| |regulation of cation channel activity| |regulation of signaling receptor activity| |pallium development| |cytoskeleton-dependent intracellular transport| |microtubule-based transport| |regulation of axonogenesis| |protein C-terminus binding| |response to ketone| |negative regulation of neuron death| |regulation of neuron apoptotic process| |response to alcohol| |developmental maturation| |protein domain specific binding| |regulation of ion transmembrane transporter activity| |telencephalon development| |regulation of transmembrane transporter activity| |synapse organization| |microtubule-based movement| |regulation of transporter activity| |positive regulation of neuron projection development| |axon| |response to antibiotic| |regulation of cell morphogenesis involved in differentiation| |regulation of neuron death| |response to steroid hormone| |regulation of cation transmembrane transport| |establishment of organelle localization| |positive regulation of neuron differentiation| |MAPK cascade| |regulation of cellular component size| |positive regulation of cell projection organization| |forebrain development| |response to peptide hormone| |signal transduction by protein phosphorylation| |axon development| |supramolecular fiber organization| |positive regulation of neurogenesis| |response to peptide| |microtubule cytoskeleton organization| |regulation of ion transmembrane transport| |neuron projection morphogenesis| |plasma membrane bounded cell projection morphogenesis| |protein heterodimerization activity| |regulation of cell morphogenesis| |cell projection morphogenesis| |regulation of neuron projection development| |response to toxic substance| |cell part morphogenesis| |regulation of anatomical structure size| |response to inorganic substance| |positive regulation of nervous system development| |positive regulation of cell development| |regulation of transmembrane transport| |response to wounding| |organelle localization| |regulation of neuron differentiation| |neuron projection development| |microtubule-based process| |regulation of plasma membrane bounded cell projection organization| |regulation of ion transport| |regulation of cell projection organization| |cell morphogenesis| |brain development| |head development| |neuron development| |regulation of neurogenesis| |cellular component morphogenesis| |cellular protein-containing complex assembly| |response to lipid| |negative regulation of apoptotic process| |negative regulation of programmed cell death| |response to hormone| |response to organic cyclic compound| |regulation of nervous system development| |regulation of cell development| |positive regulation of cell differentiation| |protein phosphorylation| |central nervous system development| |negative regulation of cell death| |response to organonitrogen compound| |neuron differentiation| |response to drug| |regulation of anatomical structure morphogenesis| |identical protein binding| |response to nitrogen compound| |cytoskeleton organization| |plasma membrane bounded cell projection organization| |cell projection organization| |positive regulation of cellular component organization| |phosphorylation| |locomotion| |positive regulation of developmental process| |nervous system process| |response to endogenous stimulus| |intracellular transport| |generation of neurons| |regulation of apoptotic process| |movement of cell or subcellular component| |response to oxygen-containing compound| |protein-containing complex assembly| |regulation of programmed cell death| |neurogenesis| |cell development| |regulation of cell death| |intracellular signal transduction| |cellular response to stress| |positive regulation of multicellular organismal process| |regulation of cell differentiation| |establishment of localization in cell| |protein-containing complex subunit organization| |regulation of transport| |system process| </modal> \\ === CRISPR Data === <button type='default' size='small' modal='Compound_Hit'>Compound Hit</button> <button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button> <button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button> <modal id='Compound_Hit' size='lg' title='Compound Hit'> No hits were found. </modal> <modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'> No correlation found to any other genes in chemogenomics. </modal> <modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'> Global Fraction of Cell Lines Where Essential: N/A ^Tissue^Fraction Of Cell Lines Where Essential^ </modal> == Essentiality in NALM6 == * **<color #00a2e8>Essentiality Rank</color>**: 17640 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -7.68 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='NEFL Expression in NALM6 Cells: -7.68'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1