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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
8
Cytoband
p21.2
Chromosome location (bp)
24950955 - 24956721
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (By similarity)....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
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GO:0000226[microtubule cytoskeleton organization] GO:0005200[structural constituent of cytoskeleton] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005882[intermediate filament] GO:0005883[neurofilament] GO:0007409[axonogenesis] GO:0008022[protein C-terminus binding] GO:0008089[anterograde axonal transport] GO:0008090[retrograde axonal transport] GO:0009636[response to toxic substance] GO:0010033[response to organic substance] GO:0014012[peripheral nervous system axon regeneration] GO:0019896[axonal transport of mitochondrion] GO:0019904[protein domain specific binding] GO:0021510[spinal cord development] GO:0021766[hippocampus development] GO:0021987[cerebral cortex development] GO:0030424[axon] GO:0030426[growth cone] GO:0030674[protein-macromolecule adaptor activity] GO:0031133[regulation of axon diameter] GO:0031594[neuromuscular junction] GO:0033693[neurofilament bundle assembly] GO:0040011[locomotion] GO:0042802[identical protein binding] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043274[phospholipase binding] GO:0043434[response to peptide hormone] GO:0044877[protein-containing complex binding] GO:0045105[intermediate filament polymerization or depolymerization] GO:0045109[intermediate filament organization] GO:0045110[intermediate filament bundle assembly] GO:0048812[neuron projection morphogenesis] GO:0050772[positive regulation of axonogenesis] GO:0050885[neuromuscular process controlling balance] GO:0051258[protein polymerization] GO:0051412[response to corticosterone] GO:0060052[neurofilament cytoskeleton organization] GO:0061564[axon development] GO:0090128[regulation of synapse maturation] GO:0097049[motor neuron apoptotic process] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098981[cholinergic synapse] GO:0099160[postsynaptic intermediate filament cytoskeleton] GO:0099170[postsynaptic modulation of chemical synaptic transmission] GO:0099182[presynaptic intermediate filament cytoskeleton] GO:0099184[structural constituent of postsynaptic intermediate filament cytoskeleton] GO:0099185[postsynaptic intermediate filament cytoskeleton organization] GO:1903935[response to sodium arsenite] GO:1903937[response to acrylamide] GO:1904115[axon cytoplasm] GO:2000672[negative regulation of motor neuron apoptotic process]
The Human Protein Atlas project is funded
