Nefh neurofilament heavy chain [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Nefhprovided by RGD
Official Full Name: neurofilament heavy chainprovided by RGD
Primary source: RGD:3159
See related: Ensembl:ENSRNOG00000008716 AllianceGenome:RGD:3159
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Nfh
Summary: Enables protein-macromolecule adaptor activity and toxic substance binding activity. A structural constituent of cytoskeleton. Involved in several processes, including cellular response to estradiol stimulus; nervous system development; and ovarian follicle atresia. Located in several cellular components, including dendrite; intermediate filament; and perikaryon. Used to study congenital hypothyroidism. Biomarker of glaucoma; hypothyroidism; phenylketonuria; sciatic neuropathy; and transient cerebral ischemia. 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 Brain (RPKM 299.3), Adrenal (RPKM 66.6) and 2 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 14q21

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	14	NC_086032.1 (84044428..84054413, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	14	NC_051349.1 (79830362..79840347, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	14	NC_005113.4 (85181572..85191557, complement)

Chromosome 14 - NC_086032.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NEFH mRNA expression was increased in rats with bilateral deafness. In unilateral deafness, NEFH mRNA level decreased at 4 weeks after deafness was induced, but recovered thereafter.
Title: Neurofilament heavy chain expression and neuroplasticity in rat auditory cortex after unilateral and bilateral deafness.
This study confirmed that the expression of Abeta (1-40) and NF200 may be useful biomarkers of axonal damage following chronic cerebral hypoperfusion.
Title: Altered expression of neurofilament 200 and amyloid-β peptide (1-40) in a rat model of chronic cerebral hypoperfusion.
The effects of nerve growth factor (NGF) or neurotrophin-3 (NT-3) on the expression of mRNAs for PPT, CGRP, NF-200, and MAP-2 was analyzed by real time-PCR assay.
Title: Expression of mRNAs for PPT, CGRP, NF-200, and MAP-2 in cocultures of dissociated DRG neurons and skeletal muscle cells in administration of NGF or NT-3.
NF-H expressed in oocytes may be involved in the maintenance of oocyte structure during follicular growth.
Title: The involvement of neurofilament heavy chain phosphorylation in the maturation and degeneration of rat oocytes.
Plasma NF-H levels at 3 days post-injury correlate with locomotor function recovery showing neuroprotective effects of minocycline against spinanl cord injury.
Title: Hyperphosphorylated neurofilament NF-H as a biomarker of the efficacy of minocycline therapy for spinal cord injury.
Isomerization of lys-ser-pro repeat residues that are abundant in NF-H tail domains by Pin1 can regulate NF-H phosphorylation.
Title: Inhibition of Pin1 reduces glutamate-induced perikaryal accumulation of phosphorylated neurofilament-H in neurons.
Neuregulin-1beta regulates outgrowth of neurites and migration of neurofilament 200 neurons from dorsal root ganglial explants in vitro.
Title: Neuregulin-1β regulates outgrowth of neurites and migration of neurofilament 200 neurons from dorsal root ganglial explants in vitro.
measuring blood levels of the high molecular weight neurofilament subunit is a convenient method for assessing neuropathology following traumatic brain injury
Title: The phosphorylated axonal form of the neurofilament subunit NF-H (pNF-H) as a blood biomarker of traumatic brain injury.
Pin1 as a possible modulator of stress-induced NF-H phosphorylation as seen in neurodegenerative disorders like AD and amyotrophic lateral sclerosis
Title: Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein.
Using a morphological approach that 200 kDa neurofilament expression in subpopulations within the dorsal root ganglia sensory neurons. Moreover, 200 kDa neurofilament is expressed in myelinated fibers.
Title: Neuronal intermediate filament expression in rat dorsal root ganglia sensory neurons: an in vivo and in vitro study.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH94567 (e-PCR)
- UniSTS:119815

RH127468 (e-PCR)
- UniSTS:210778

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables protein kinase binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info
enables toxic substance binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in axon development	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon development	IEA Inferred from Electronic Annotation more info
involved_in axon development	ISO Inferred from Sequence Orthology more info
involved_in axon regeneration	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to estradiol stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in cellular response to hydroperoxide	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within cellular response to leukemia inhibitory factor	ISO Inferred from Sequence Orthology more info
involved_in cellular response to oxidative stress	IEP Inferred from Expression Pattern more info	PubMed
involved_in cerebral cortex development	IEP Inferred from Expression Pattern more info	PubMed
involved_in hippocampus development	IEP Inferred from Expression Pattern more info	PubMed
involved_in intermediate filament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament bundle assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within intermediate filament bundle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intermediate filament cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in neurofilament bundle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neurofilament cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IEP Inferred from Expression Pattern more info	PubMed
involved_in ovarian follicle atresia	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within peripheral nervous system neuron axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in postsynaptic intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	ISO Inferred from Sequence Orthology more info
involved_in regulation of organelle transport along microtubule	ISO Inferred from Sequence Orthology more info
involved_in response to acrylamide	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to cocaine	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to sodium arsenite	IDA Inferred from Direct Assay more info	PubMed
involved_in spinal cord development	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
is_active_in Schaffer collateral - CA1 synapse	ISO Inferred from Sequence Orthology more info
located_in apical dendrite	IDA Inferred from Direct Assay 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 basal proximal dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in intermediate filament	IDA Inferred from Direct Assay 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	IEA Inferred from Electronic Annotation more info
located_in neurofilament	ISO Inferred from Sequence Orthology more info
located_in neuronal cell body	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in postsynapse	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: neurofilament heavy polypeptide

Names: 200 kDa neurofilament protein; NF-H; neurofilament triplet H protein; neurofilament, heavy polypeptide

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.

mRNA and Protein(s)

NM_012607.2 → NP_036739.2 neurofilament heavy polypeptide

Status: VALIDATED

Source sequence(s)

CB582861, CB585094, JAXUCZ010000014

UniProtKB/TrEMBL

F1LRZ7

Related

ENSRNOP00000011604.3, ENSRNOT00000011604.5

Conserved Domains (4) summary

pfam00038
Location:96 → 412

Filament; Intermediate filament protein

pfam06136
Location:664 → 807

DUF966; Domain of unknown function (DUF966)

pfam07142
Location:726 → 752

DUF1388; Repeat of unknown function (DUF1388)

pfam11679
Location:500 → 571

DUF3275; Protein of unknown function (DUF3275)