Nefh neurofilament, heavy polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Nefhprovided by MGI
Official Full Name: neurofilament, heavy polypeptideprovided by MGI
Primary source: MGI:MGI:97309
See related: Ensembl:ENSMUSG00000020396 AllianceGenome:MGI:97309
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: Nfh; NF-H; NF200; mKIAA0845
Summary: A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in axon development. Acts upstream of or within cellular response to leukemia inhibitory factor; cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Located in several cellular components, including Schaffer collateral - CA1 synapse; intermediate filament cytoskeleton; and postsynaptic density. Is expressed in several structures, including alimentary system; genitourinary system; hemolymphoid system gland; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy chain). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 61.2), cortex adult (RPKM 8.9) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 11 A1; 11 3.12 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (4888754..4898064, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (4938754..4948064, complement)

Chromosome 11 - NC_000077.7 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.
These findings indicate that NEFH is expressed in podocytes during the disease course and that it prevents the reduction in synaptopodin expression and detachment of podocytes.
Title: Neurofilament heavy polypeptide protects against reduction in synaptopodin expression and prevents podocyte detachment.
The abundance of dural afferent neurons expressing NF200 in adult mice.
Title: Quantitative Analysis of Mouse Dural Afferent Neurons Expressing TRPM8, VGLUT3, and NF200.
Data indicate the presence of a HuD - BDNF - NF-H pathway activated as a regenerative response to the axonal damage induced by antiretroviral treatment to counteract the antiretroviral neurotoxicity.
Title: Increase of neurofilament-H protein in sensory neurons in antiretroviral neuropathy: Evidence for a neuroprotective response mediated by the RNA-binding protein HuD.
Microgravity causes substantial down-regulation of nerve tissue proteins, choline acetyltransferase, NF200, and calbindin in mouse motor neurons.
Title: Changes in the Neurochemical Composition of Motor Neurons of the Spinal Cord in Mice under Conditions of Space Flight.
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.
plasma NfH levels closely reflect later stages of disease progression and therapeutic response in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis
Title: Plasma neurofilament heavy chain levels correlate to markers of late stage disease progression and treatment response in SOD1(G93A) mice that model ALS.
NFH expression reveals an exquisite level of Cb stripe complexity that respects the transverse zone divisions and delineates an intricately patterned target field for Cb afferents.
Title: Neurofilament heavy chain expression reveals a unique parasagittal stripe topography in the mouse cerebellum.
If expression of neurofilament heavy is developmentally delayed, the neurofilament network is established in a distal to proximal gradient, perhaps to allow distal axonal segments to develop prior to proximal segments.
Title: Distal to proximal development of peripheral nerves requires the expression of neurofilament heavy.
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.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Targeted (7) 1 citation
Endonuclease-mediated (6)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

M24496 (e-PCR)
- UniSTS:124944

42.MMHAP9FLF6.seq (e-PCR)
- UniSTS:124478

Nfh (e-PCR), detects polymorphism
- UniSTS:144005

Nefh (e-PCR), detects polymorphism
- UniSTS:265463

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein kinase 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	ISO Inferred from Sequence Orthology more info
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
enables toxic substance binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axon development	ISO Inferred from Sequence Orthology more info
involved_in axon regeneration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	IEP Inferred from Expression Pattern more info	PubMed
involved_in intermediate filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intermediate filament bundle assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intermediate filament bundle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intermediate filament cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within microtubule cytoskeleton organization	IGI Inferred from Genetic Interaction more info	PubMed
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
involved_in ovarian follicle atresia	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peripheral nervous system neuron 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 regulation of organelle transport along microtubule	ISO Inferred from Sequence Orthology more info
involved_in response to sodium arsenite	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
located_in apical dendrite	ISO Inferred from Sequence Orthology more info
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	PubMed
located_in basal proximal dendrite	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in intermediate filament	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	HDA more info	PubMed
located_in myelin sheath	HDA more info	PubMed
located_in neurofibrillary tangle	ISO Inferred from Sequence Orthology more info
is_active_in neurofilament	IBA Inferred from Biological aspect of Ancestor more info
located_in neurofilament	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in postsynaptic density	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynaptic intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: neurofilament heavy polypeptide

Names: 200 kDa neurofilament protein; neurofilament 200kDa; neurofilament triplet H 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.