Nefm neurofilament, medium polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nefmprovided by MGI
Official Full Name: neurofilament, medium polypeptideprovided by MGI
Primary source: MGI:MGI:97314
See related: Ensembl:ENSMUSG00000022054 AllianceGenome:MGI:97314
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: Nfm; NF-M; Nef3; NF160; NF165
Summary: Predicted to enable signaling receptor binding activity and toxic substance binding activity. Acts upstream of or within axo-dendritic transport; cytoskeleton organization; and regulation of axon diameter. Located in several cellular components, including intermediate filament cytoskeleton; neuromuscular junction; and postsynaptic density. Is active in presynaptic intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; branchial arch; limb; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease and human immunodeficiency virus infectious disease. Orthologous to human NEFM (neurofilament medium chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 73.7), CNS E11.5 (RPKM 39.8) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D1; 14 35.46 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (68356994..68362453, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (68119545..68125004, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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.
Gene deletion studies demonstrated for the first time that lack of NFM leads to changes of D1R-mediated long-term potentiation and D1R-mediated behavior
Title: Neurofilament subunits are integral components of synapses and modulate neurotransmission and behavior in vivo.
Data conclude that NF-H and NF-M C-terminal domains do not normally regulate NF transport rates as previously proposed, but instead increase the proteolytic resistance of NF, thereby stabilizing the stationary neurofilament cytoskeleton along axons.
Title: The C-terminal domains of NF-H and NF-M subunits maintain axonal neurofilament content by blocking turnover of the stationary neurofilament network.
Computational modeling predicted that an expanded NF-M C terminus extended farther from the neurofilament core independent of lysine-serine-proline (KSP) phosphorylation.
Title: Expansion of neurofilament medium C terminus increases axonal diameter independent of increases in conduction velocity or myelin thickness.
results obtained in mouse model for leprous neuropathy indicate biochemical alterations in neurofilaments, i.e., hyperphosphorylation of NF-H and NF-M
Title: Hypophosphorylation of NF-H and NF-M subunits of neurofilaments and the associated decrease in KSPXK kinase activity in the sciatic nerves of swiss white mice inoculated in the foot pad with mycobacterium leprae.
RE1 silencing transcription factor (REST) plays a contributory role in the neuron-specific expression of the alpha-internexin, NF-H and NF-M genes
Title: RE1 silencing transcription factor is involved in regulating neuron-specific expression of alpha-internexin and neurofilament genes.
Phosphorylation of NF-M lysine-serine-proline (KSP) repeats is not an essential component for the acquisition of normal axonal caliber mediated by myelin-dependent outside-in signaling.
Title: Phosphorylation of highly conserved neurofilament medium KSP repeats is not required for myelin-dependent radial axonal growth.
data indicate that a blockade of NMDA receptors during development of cortical neurons increases the phosphorylation state and the solubility of NF-M, thereby favoring neurite outgrowth
Title: Phosphorylation of neurofilament subunit NF-M is regulated by activation of NMDA receptors and modulates cytoskeleton stability and neuronal shape.
Alpha-internexin coassembles with all 3 neurofilament proteins into a single network of filaments in quadruple-transfected cells. Deleting NF-M alone or together with NF-H in mice reduces alpha-internexin transport & content in axons throughout the CNS.
Title: Alpha-internexin is structurally and functionally associated with the neurofilament triplet proteins in the mature CNS.
NF-M regulates the association of NFs with kinesin.
Title: The high and middle molecular weight neurofilament subunits regulate the association of neurofilaments with kinesin: inhibition by phosphorylation of the high molecular weight subunit.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Variation

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Alleles

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

Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NEF3_219 (e-PCR)
- UniSTS:277527

UniSTS:465485 (e-PCR)
- UniSTS:465485

Nefm (e-PCR), detects polymorphism
- UniSTS:465485

Nfm (e-PCR), detects polymorphism
- UniSTS:144009

Nefm (e-PCR), detects polymorphism
- UniSTS:265462

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables structural constituent of cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
enables structural molecule activity	IEA Inferred from Electronic Annotation more info
enables toxic substance binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axo-dendritic transport	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
acts_upstream_of_or_within intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament polymerization or depolymerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within microtubule cytoskeleton organization	IGI Inferred from Genetic Interaction 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 regulation of axon diameter	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
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 cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	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	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
located_in neurofibrillary tangle	ISO Inferred from Sequence Orthology more info
located_in neurofilament	IDA Inferred from Direct Assay more info	PubMed
located_in neurofilament	ISO Inferred from Sequence Orthology more info
located_in neuromuscular junction	IDA Inferred from Direct Assay more info	PubMed
located_in neuron projection	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	IDA Inferred from Direct Assay 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 medium polypeptide

Names: 160 kDa neurofilament protein; neurofilament 3, medium; neurofilament protein M; neurofilament triplet M protein; neurofilament-M

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.