Nefl neurofilament, light polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Neflprovided by MGI
Official Full Name: neurofilament, light polypeptideprovided by MGI
Primary source: MGI:MGI:97313
See related: Ensembl:ENSMUSG00000022055 AllianceGenome:MGI:97313
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Nfl; NF-L; NF68; CMT2E
Summary: Enables protein-macromolecule adaptor activity. A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in intermediate filament bundle assembly and synapse maturation. Acts upstream of or within several processes, including cytoskeleton organization; generation of neurons; and regulation of axon diameter. Located in several cellular components, including cholinergic synapse; intermediate filament cytoskeleton; and neuromuscular junction. Is active in Schaffer collateral - CA1 synapse and postsynaptic intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; limb; and peripheral nervous system ganglion. Used to study Charcot-Marie-Tooth disease type 2E. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament light chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 173.8), cortex adult (RPKM 78.3) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D1; 14 35.46 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (68321312..68326544)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (68083863..68089095)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Neurofilament Protein as a Potential Biomarker of Axonal Degeneration in Experimental Autoimmune Encephalomyelitis.
Title: Neurofilament Protein as a Potential Biomarker of Axonal Degeneration in Experimental Autoimmune Encephalomyelitis.
Neurofilament light protein in CSF and blood is associated with neurodegeneration and disease severity in Huntington's disease R6/2 mice
Title: Neurofilament light protein in CSF and blood is associated with neurodegeneration and disease severity in Huntington's disease R6/2 mice.
NFL deficits cause an N-methyl-D-aspartic acid receptor hypofunction phenotype including abnormal hippocampal function, as seen in schizophrenia. NFL-/- deletion in mice reduces dendritic spines and GluN1 protein levels, elevates ubiquitin-dependent turnover of GluN1 and hippocampal glutamate measured by MRS, and depresses hippocampal long-term potentiation.
Title: Neurofilament light interaction with GluN1 modulates neurotransmission and schizophrenia-associated behaviors.
Study found that NFL protein levels are at least doubled in pmn mutant motoneurons and that NFL depletion rescues defective axon growth in cultured motoneurons and prolongs survival of pmn mutant mice. This effect was found both in Nefl+/-;pmn motoneurons in which elevated NF expression was brought back to wild-type control levels and in Nefl-/-;pmn motoneurons in which axonal neurofilament was completely lost.
Title: Neurofilament depletion improves microtubule dynamics via modulation of Stat3/stathmin signaling.
It may have a role in protecting neurites from dystrophy and in regulating cellular pathways related to the generation of Ab plaques.
Title: Neurofilament light gene deletion exacerbates amyloid, dystrophic neurite, and synaptic pathology in the APP/PS1 transgenic model of Alzheimer's disease.
Nefl(N98S/+) mice had a noticeable tremor, and most animals showed a hindlimb clasping similar to human Charcot-Marie-Tooth Type 2E phenotype.
Title: Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
Mice lacking NF-Lr ecapitulated the delayed synapse elimination phenotype observed in micelacking Nfasc155.
Title: Loss of glial neurofascin155 delays developmental synapse elimination at the neuromuscular junction.
The finding of this study suggested that a lack of NFL protein alters the expression of cytoskeletal proteins and disrupts other NF subunits, causing intracellular aggregation but not gross structural changes in cortical neurons or cytoarchitecture.
Title: Cytoskeletal changes during development and aging in the cortex of neurofilament light protein knockout mice.
Neurofilament light chain (NFL) and neuronal intermediate filament protein alpha-internexin accumulate in axon swellings in the spinal white matter in a superoxide dismutase (SOD)-1 mouse model.
Title: Degeneration of axons in spinal white matter in G93A mSOD1 mouse characterized by NFL and α-internexin immunoreactivity.
Data suggest that tetrahydropapaveroline (an endogenous catechol) causes oxidative stress resulting in astrocyte/neuronal cell death via generation of reactive oxygen species and modification/aggregation of NF-L (as in neurodegenerative diseases).
Title: Oxidative modification of neurofilament-L and neuronal cell death induced by the catechol neurotoxin, tetrahydropapaveroline.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (4) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI847934 (e-PCR)
- UniSTS:165911

Nefl (e-PCR), detects polymorphism
- UniSTS:465486

Nfl (e-PCR), detects polymorphism
- UniSTS:144007

Nfl (e-PCR), detects polymorphism
- UniSTS:144008

Nefl (e-PCR), detects polymorphism
- UniSTS:265464

PMC15073P3 (e-PCR)
- UniSTS:271100

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phospholipase binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of cytoskeleton	ISO Inferred from Sequence Orthology more info
enables structural constituent of postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of postsynaptic intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of postsynaptic intermediate filament cytoskeleton	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISO Inferred from Sequence Orthology more info
involved_in axonal transport of mitochondrion	ISO Inferred from Sequence Orthology more info
acts_upstream_of axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within intermediate filament bundle assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intermediate filament bundle assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament polymerization or depolymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within locomotion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of motor neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of motor neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurofilament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurofilament bundle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neurofilament cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within neurofilament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuromuscular process controlling balance	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron projection morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within peripheral nervous system axon regeneration	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in postsynaptic modulation of chemical synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in postsynaptic modulation of chemical synaptic transmission	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein polymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of axon diameter	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synapse maturation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synapse maturation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to sodium arsenite	ISO Inferred from Sequence Orthology more info
involved_in retrograde axonal transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in Schaffer collateral - CA1 synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cholinergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in cholinergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in growth cone	ISO Inferred from Sequence Orthology more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in intermediate filament	IDA Inferred from Direct Assay more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in neurofilament	IDA Inferred from Direct Assay more info	PubMed
located_in neurofilament	ISO Inferred from Sequence Orthology more info
is_active_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuromuscular junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
is_active_in presynaptic intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neurofilament light polypeptide

Names: 68 kDa neurofilament protein; neurofilament triplet L protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.