Nefl neurofilament light chain [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Neflprovided by RGD
Official Full Name: neurofilament light chainprovided by RGD
Primary source: RGD:621458
See related: Ensembl:ENSRNOG00000013658 AllianceGenome:RGD:621458
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Nfl; NF-L; NF68
Summary: Enables phospholipase binding activity and protein domain specific binding activity. Involved in several processes, including central nervous system development; intermediate filament cytoskeleton organization; and response to corticosterone. Located in growth cone and neurofilament. Colocalizes with neuron projection. Used to study congenital hypothyroidism. Biomarker of hypothyroidism; mental depression; sciatic neuropathy; and transient cerebral ischemia. 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: Restricted expression toward (RPKM 1441.6) See more
Orthologs: human mouse all
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Genomic context

Location:: 15p12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	15	NC_086033.1 (46477330..46481203)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	15	NC_051350.1 (42301920..42305793)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	15	NC_005114.4 (44799378..44803251)

Chromosome 15 - NC_086033.1 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?

Temporal profile and utility of serum neurofilament light in a rat model of mild traumatic brain injury.
Title: Temporal profile and utility of serum neurofilament light in a rat model of mild traumatic brain injury.
Evaluation of neurofilament light chain in the cerebrospinal fluid and blood as a biomarker for neuronal damage in experimental pneumococcal meningitis.
Title: Evaluation of neurofilament light chain in the cerebrospinal fluid and blood as a biomarker for neuronal damage in experimental pneumococcal meningitis.
miR-7a ameliorated neuropathic pain via blocking the signal transducer and activator of transcription signaling pathway by repressing neurofilament light polypeptide.
Title: MicroRNA-7a ameliorates neuropathic pain in a rat model of spinal nerve ligation via the neurofilament light polypeptide-dependent signal transducer and activator of transcription signaling pathway.
Furthermore, the effect of CaMKP on self-assembly of NFL was examined. Electron microscopy revealed that CaMKP markedly prevented NFL from forming large filamentous aggregates, suggesting that CaMKP-binding to NFL inhibits its filament association. These findings may provide new insights into a novel mechanism for regulating network formation of neurofilaments during neuronal differentiation.
Title: Ca(2+)/calmodulin-dependent protein kinase phosphatase (CaMKP/PPM1F) interacts with neurofilament L and inhibits its filament association.
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.
LANP directly regulates expression of the neurofilament light chain, an important neuron-specific cytoskeletal gene, by binding to the promoter of this gene and modulating histone acetylation levels
Title: Neuronal differentiation is regulated by leucine-rich acidic nuclear protein (LANP), a member of the inhibitor of histone acetyltransferase complex.
Data show that as a consequence of RhoA knockdown, the process which expresses neurofilament is markedly induced in C12 cells.
Title: Marked effect of RhoA-specific shRNA-producing plasmids on neurite growth in PC12 cells.
68-kDa neurofilament light chain (NF-L) as identified as a binding protein of amino-terminal PH domain of PLC-gamma1.
Title: Pleckstrin homology domain of phospholipase C-gamma1 directly binds to 68-kDa neurofilament light chain.
The amount of NF-L correlated with the morphological retinal and optic nerve damage in rats
Title: Alterations in neurofilament light in optic nerve in rat kainate and monkey ocular hypertension models.
In cultured cortical neurons, hamartin and tuberin co-localize with neurofilament light chain preferentially in the proximal to central growth cone region
Title: The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton.

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

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

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

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

PMC15073P3 (e-PCR)
- UniSTS:271100

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables phospholipase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info

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	ISO Inferred from Sequence Orthology more info
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
acts_upstream_of_or_within intermediate filament bundle assembly	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament bundle assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intermediate filament organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament organization	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament polymerization or depolymerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within locomotion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of motor neuron apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of motor neuron apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in neurofilament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurofilament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
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
acts_upstream_of_or_within neuromuscular process controlling balance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron projection morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within peripheral nervous system axon regeneration	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of 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 protein polymerization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of axon diameter	ISO Inferred from Sequence Orthology more info
involved_in regulation of synapse maturation	ISO Inferred from Sequence Orthology more info
involved_in response to acrylamide	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to corticosterone	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to peptide hormone	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to sodium arsenite	IDA Inferred from Direct Assay more info	PubMed
involved_in response to toxic substance	IEP Inferred from Expression Pattern more info	PubMed
involved_in retrograde axonal transport	ISO Inferred from Sequence Orthology more info
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
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 axon cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cholinergic synapse	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in growth cone	IDA Inferred from Direct Assay more info	PubMed
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 neurofilament	IDA Inferred from Direct Assay more info	PubMed
located_in neurofilament	ISO Inferred from Sequence Orthology more info
is_active_in neuromuscular junction	ISO Inferred from Sequence Orthology more info
located_in neuron projection	ISO Inferred from Sequence Orthology more info
located_in postsynapse	ISO Inferred from Sequence Orthology more info
is_active_in postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in postsynaptic intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in presynaptic intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: neurofilament light polypeptide

Names: 68 kDa neurofilament protein; 68kDa neurofilament; neurofilament triplet L protein; neurofilament, light 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_031783.2 → NP_113971.1 neurofilament light polypeptide

See identical proteins and their annotated locations for NP_113971.1

Status: PROVISIONAL

Source sequence(s)

JAXUCZ010000015

UniProtKB/Swiss-Prot

P19527, Q63367

UniProtKB/TrEMBL

A6K6Q9

Related

ENSRNOP00000018599.1, ENSRNOT00000018599.4

Conserved Domains (4) summary

pfam00038
Location:89 → 400

Filament; Intermediate filament protein

pfam04732
Location:9 → 88

Filament_head; Intermediate filament head (DNA binding) region

cd16269
Location:212 → 222

GBP_C; coiled coil [structural motif]

cl20817
Location:140 → 239

GBP_C; Guanylate-binding protein, C-terminal domain