Nefl (neurofilament light chain) - Rat Genome Database

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Gene: Nefl (neurofilament light chain) Rattus norvegicus
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Symbol: Nefl
Name: neurofilament light chain
RGD ID: 621458
Description: 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. Used to study congenital hypothyroidism. Biomarker of depressive disorder; hypothyroidism; 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); PARTICIPATES IN amyotrophic lateral sclerosis pathway; INTERACTS WITH (-)-anisomycin; 1-[(2,3,4-trimethoxyphenyl)methyl]piperazine; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: 68 kDa neurofilament protein; 68kDa neurofilament; neurofilament light; neurofilament light polypeptide; neurofilament triplet L protein; neurofilament, light polypeptide; NF-L; NF68; Nfl
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Is Marker For: QTLs:   MAMTS3_H  
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81546,477,330 - 46,481,203 (+)NCBIGRCr8
mRatBN7.21542,301,920 - 42,305,793 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1542,301,916 - 42,305,793 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1544,166,607 - 44,170,480 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01545,316,823 - 45,320,696 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01543,762,173 - 43,766,046 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01544,799,378 - 44,803,251 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1544,799,334 - 44,804,574 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01546,793,526 - 46,797,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41547,636,303 - 47,640,176 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11547,652,082 - 47,655,956 (+)NCBI
Celera1541,961,053 - 41,964,926 (+)NCBICelera
Cytogenetic Map15p12NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute disseminated encephalomyelitis  (ISO)
AIDS Dementia Complex  (ISO)
Alzheimer's disease  (ISO)
amyotrophic lateral sclerosis  (ISO)
Anti-N-Methyl-D-Aspartate Receptor Encephalitis  (ISO)
Auditory Neuropathy  (ISO)
autosomal dominant distal hereditary motor neuronopathy  (ISO)
autosomal dominant distal hereditary motor neuronopathy 14  (ISO)
Charcot-Marie-Tooth disease  (ISO)
Charcot-Marie-Tooth disease dominant intermediate G  (ISO)
Charcot-Marie-Tooth disease type 1  (ISO)
Charcot-Marie-Tooth disease type 1C  (ISO)
Charcot-Marie-Tooth disease type 1F  (ISO)
Charcot-Marie-Tooth disease type 2E  (ISO,ISS)
Charcot-Marie-Tooth disease type 2EE  (ISO)
congenital hypothyroidism  (IDA)
COVID-19  (ISO)
Creutzfeldt-Jakob disease  (ISO)
demyelinating disease  (ISO)
depressive disorder  (IEP)
distal myopathy  (ISO)
Experimental Autoimmune Encephalomyelitis  (IEP)
fatal familial insomnia  (ISO)
frontotemporal dementia  (ISO)
Frontotemporal Lobar Degeneration  (ISO)
genetic disease  (ISO)
HIV Seropositivity  (ISO)
human immunodeficiency virus infectious disease  (ISO)
hypothyroidism  (IEP)
invasive ductal carcinoma  (ISO)
Lewy body dementia  (ISO)
Malnutrition  (IEP)
middle cerebral artery infarction  (ISO)
mild cognitive impairment  (ISO)
multiple sclerosis  (ISO)
neuromyelitis optica  (ISO)
neuropathy  (ISO)
Neurosyphilis  (ISO)
Parkinson's disease  (ISO)
peripheral nervous system disease  (ISO)
progressive multifocal leukoencephalopathy  (ISO)
relapsing-remitting multiple sclerosis  (ISO)
sciatic neuropathy  (IEP)
sensorineural hearing loss  (ISO)
Sepsis  (ISO)
Sepsis-Associated Encephalopathy  (ISO)
Sjogren's syndrome  (ISO)
Spinal Cord Injuries  (IDA)
spinal muscular atrophy  (ISO)
Sporadic Creutzfeldt-Jakob Disease  (ISO)
Stroke  (ISO)
syphilis  (ISO)
Talipes Cavus  (ISO)
transient cerebral ischemia  (IEP)
vascular dementia  (ISO)
Wallerian Degeneration  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (EXP)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (EXP)
17alpha-ethynylestradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (EXP)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
2-methylcholine  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
3-methyladenine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-azacytidine  (ISO)
6-Cyano-7-nitroquinoxaline-2,3-dione  (EXP)
6-propyl-2-thiouracil  (EXP)
9-cis-retinoic acid  (ISO)
acetamide  (EXP)
acrylamide  (EXP)
actinomycin D  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
aldrin  (ISO)
all-trans-4-oxoretinoic acid  (ISO)
all-trans-retinoic acid  (ISO)
alpha-amanitin  (EXP)
aluminium sulfate (anhydrous)  (ISO)
ammonium chloride  (EXP)
amphotericin B  (ISO)
antimycin A  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP,ISO)
atrazine  (ISO)
azoxystrobin  (ISO)
BAPTA  (EXP)
belinostat  (ISO)
Benzamil  (EXP)
benzo[a]pyrene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
Brodifacoum  (EXP)
bucladesine  (ISO)
butanal  (ISO)
Butylbenzyl phthalate  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calcitriol  (ISO)
calcium atom  (EXP)
calcium(0)  (EXP)
Calpeptin  (EXP)
calyculin a  (EXP)
camptothecin  (ISO)
carbon disulfide  (EXP)
chloroethene  (ISO)
chlorpyrifos  (EXP,ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (EXP,ISO)
coenzyme Q10  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (ISO)
cordycepin  (EXP)
Cuprizon  (EXP)
cycloheximide  (EXP)
cyfluthrin  (ISO)
cypermethrin  (ISO)
daidzein 7-O-beta-D-glucoside  (EXP)
dantrolene  (EXP)
deguelin  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (EXP,ISO)
dichlorvos  (EXP)
dieldrin  (EXP)
diethyl phthalate  (EXP)
diethylstilbestrol  (EXP)
diisobutyl phthalate  (EXP)
diisononyl phthalate  (EXP)
diuron  (EXP)
dizocilpine maleate  (EXP)
dorsomorphin  (ISO)
doxorubicin  (ISO)
emetine  (EXP)
endosulfan  (EXP)
entinostat  (ISO)
enzyme inhibitor  (ISO)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (EXP)
fenvalerate  (EXP)
folic acid  (ISO)
FR900359  (ISO)
furan  (EXP)
gentamycin  (EXP)
glyburide  (EXP)
Heptachlor epoxide  (ISO)
hydrogen sulfide  (ISO)
idebenone  (EXP)
indometacin  (EXP)
isotretinoin  (ISO)
ivermectin  (ISO)
kainic acid  (EXP)
ketamine  (EXP)
KN-93  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
leupeptin  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
memantine  (EXP)
mercury dibromide  (ISO)
methylmercury chloride  (EXP,ISO)
mono(2-ethyl-5-hydroxyhexyl) phthalate  (ISO)
mono(2-ethyl-5-oxohexyl) phthalate  (ISO)
mono(5-carboxy-2-ethylpentyl) phthalate  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-D-aspartic acid  (EXP)
N-Nitrosopyrrolidine  (ISO)
nicardipine  (EXP)
nifedipine  (EXP)
Nilvadipine  (EXP)
Nutlin-3  (ISO)
O-methyleugenol  (ISO)
ouabain  (ISO)
paclitaxel  (EXP)
panobinostat  (ISO)
paracetamol  (EXP)
paraquat  (EXP)
parathion  (EXP)
PCB138  (EXP,ISO)
pentanal  (ISO)
phenylmercury acetate  (ISO)
picoxystrobin  (ISO)
propanal  (ISO)
puromycin  (EXP)
pyridoxine  (EXP)
raloxifene  (ISO)
rotenone  (EXP,ISO)
SB 431542  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (EXP)
staurosporine  (EXP)
sunitinib  (ISO)
tebufenpyrad  (ISO)
temozolomide  (ISO)
terbutaline  (EXP)
tetrachloroethene  (EXP)
thifluzamide  (ISO)
thioacetamide  (EXP)
titanium dioxide  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (EXP)
trichostatin A  (ISO)
triclosan  (ISO)
trifluoperazine  (EXP)
trimethyltin  (EXP)
U-73122  (EXP)
uranium atom  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP)
vinclozolin  (EXP)
vincristine  (EXP)
vorinostat  (ISO)
Z-Val-Phe-H  (EXP)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Blood neurofilament light concentration at admittance: a potential prognostic marker in COVID-19. Aamodt AH, etal., J Neurol. 2021 Mar 20. pii: 10.1007/s00415-021-10517-6. doi: 10.1007/s00415-021-10517-6.
2. The CSF neurofilament light signature in rapidly progressive neurodegenerative dementias. Abu-Rumeileh S, etal., Alzheimers Res Ther. 2018 Jan 11;10(1):3. doi: 10.1186/s13195-017-0331-1.
3. Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges. Abu-Rumeileh S, etal., Ann Neurol. 2018 Sep;84(3):347-360. doi: 10.1002/ana.25300. Epub 2018 Aug 31.
4. Diagnostic value of surrogate CSF biomarkers for Creutzfeldt-Jakob disease in the era of RT-QuIC. Abu-Rumeileh S, etal., J Neurol. 2019 Dec;266(12):3136-3143. doi: 10.1007/s00415-019-09537-0. Epub 2019 Sep 20.
5. Cerebrospinal fluid interferon alpha levels correlate with neurocognitive impairment in ambulatory HIV-Infected individuals. Anderson AM, etal., J Neurovirol. 2017 Feb;23(1):106-112. doi: 10.1007/s13365-016-0466-z. Epub 2016 Jul 11.
6. Neurofilament light chain in blood is negatively associated with neuropsychological performance in HIV-infected adults and declines with initiation of antiretroviral therapy. Anderson AM, etal., J Neurovirol. 2018 Dec;24(6):695-701. doi: 10.1007/s13365-018-0664-y. Epub 2018 Aug 13.
7. Heterodimeric associations between neuronal intermediate filament proteins. Athlan ES and Mushynski WE, J Biol Chem. 1997 Dec 5;272(49):31073-8.
8. Compartmentation of alpha-internexin and neurofilament triplet proteins in cultured hippocampal neurons. Benson DL, etal., J Neurocytol. 1996 Mar;25(3):181-96.
9. Clinical, Radiological, and Laboratory Features of Spinal Cord Involvement in Primary Sjögren's Syndrome. Butryn M, etal., J Clin Med. 2020 May 14;9(5). pii: jcm9051482. doi: 10.3390/jcm9051482.
10. Effects of brain ischemia on intermediate filaments of rat hippocampus. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
11. Chronic treatment with high doses of corticosterone decreases cytoskeletal proteins in the rat hippocampus. Cereseto M, etal., Eur J Neurosci. 2006 Dec;24(12):3354-64.
12. Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells. Chin SS and Liem RK, Eur J Cell Biol 1989 Dec;50(2):475-90.
13. Analysis of the roles of the head domains of type IV rat neuronal intermediate filament proteins in filament assembly using domain-swapped chimeric proteins. Ching GY and Liem RK, J Cell Sci. 1999 Jul;112 ( Pt 13):2233-40.
14. Potential Role of CHI3L1+ Astrocytes in Progression in MS. Cubas-Núñez L, etal., Neurol Neuroimmunol Neuroinflamm. 2021 Mar 3;8(3). pii: 8/3/e972. doi: 10.1212/NXI.0000000000000972. Print 2021 May 4.
15. Serum neurofilaments increase at progressive multifocal leukoencephalopathy onset in natalizumab-treated multiple sclerosis patients. Dalla Costa G, etal., Ann Neurol. 2019 Apr;85(4):606-610. doi: 10.1002/ana.25437. Epub 2019 Mar 5.
16. The prognostic value of neurofilament levels in patients with sepsis-associated encephalopathy - A prospective, pilot observational study. Ehler J, etal., PLoS One. 2019 Jan 24;14(1):e0211184. doi: 10.1371/journal.pone.0211184. eCollection 2019.
17. Autoantibodies to neurotypic and gliotypic proteins as biomarkers of neurotoxicity: assessment of trimethyltin (TMT). El-Fawal HA and O'Callaghan JP, Neurotoxicology. 2008 Jan;29(1):109-15. Epub 2007 Oct 5.
18. Cytoskeleton of hippocampal neurons as a target for valproic acid in an experimental model of depression. Ferrero AJ, etal., Prog Neuropsychopharmacol Biol Psychiatry. 2007 Oct 1;31(7):1419-28. Epub 2007 Jun 26.
19. Serum Neurofilament Levels and PML Risk in Patients With Multiple Sclerosis Treated With Natalizumab. Fissolo N, etal., Neurol Neuroimmunol Neuroinflamm. 2021 Apr 26;8(4). pii: 8/4/e1003. doi: 10.1212/NXI.0000000000001003. Print 2021 Jul.
20. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
21. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
22. mRNA levels of all three neurofilament proteins decline following nerve transection. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
23. The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton. Haddad LA, etal., J Biol Chem 2002 Nov 15;277(46):44180-6.
24. Cerebrospinal fluid neurofilament light in suspected sporadic Creutzfeldt-Jakob disease. Kanata E, etal., J Clin Neurosci. 2019 Feb;60:124-127. doi: 10.1016/j.jocn.2018.09.031. Epub 2018 Oct 9.
25. Neurochemical evidence of astrocytic and neuronal injury commonly found in COVID-19. Kanberg N, etal., Neurology. 2020 Sep 22;95(12):e1754-e1759. doi: 10.1212/WNL.0000000000010111. Epub 2020 Jun 16.
26. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
27. Pleckstrin homology domain of phospholipase C-gamma1 directly binds to 68-kDa neurofilament light chain. Kim SK, etal., Exp Mol Med. 2006 Jun 30;38(3):265-72.
28. In vitro assay of neurofilament light chain self-assembly using truncated mutants. Kim SK, etal., J Neurosci Methods. 2007 Apr 15;161(2):199-204. Epub 2006 Dec 8.
29. Overexpression of neurofilament subunit NF-L and NF-H extends survival of a mouse model for amyotrophic lateral sclerosis. Kong J and Xu Z, Neurosci Lett. 2000 Mar 3;281(1):72-4.
30. Cerebrospinal fluid light and heavy neurofilament level increased in anti-N-methyl-d-aspartate receptor encephalitis. Li J, etal., Brain Behav. 2019 Aug;9(8):e01354. doi: 10.1002/brb3.1354. Epub 2019 Jul 17.
31. Increased CSF Soluble TREM2 Concentration in Patients With Neurosyphilis. Li W, etal., Front Neurol. 2020 Feb 5;11:62. doi: 10.3389/fneur.2020.00062. eCollection 2020.
32. High serum neurofilament levels among Chinese patients with aquaporin-4-IgG-seropositive neuromyelitis optica spectrum disorders. Liu C, etal., J Clin Neurosci. 2021 Jan;83:108-111. doi: 10.1016/j.jocn.2020.11.016. Epub 2020 Dec 13.
33. Differential expression and localization of the phosphorylated and nonphosphorylated neurofilaments during the early postnatal development of rat hippocampus. Lopez-Picon FR, etal., Hippocampus. 2003;13(7):767-79.
34. Impaired Neurofilament Integrity and Neuronal Morphology in Different Models of Focal Cerebral Ischemia and Human Stroke Tissue. Mages B, etal., Front Cell Neurosci. 2018 Jun 18;12:161. doi: 10.3389/fncel.2018.00161. eCollection 2018.
35. CSF neurofilament light chain reflects corticospinal tract degeneration in ALS. Menke RA, etal., Ann Clin Transl Neurol. 2015 Jul;2(7):748-55. doi: 10.1002/acn3.212. Epub 2015 May 25.
36. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
37. Two distinct functions of the carboxyl-terminal tail domain of NF-M upon neurofilament assembly: cross-bridge formation and longitudinal elongation of filaments. Nakagawa T, etal., J Cell Biol. 1995 Apr;129(2):411-29.
38. Electronic Transfer of LocusLink and RefSeq Data NCBI rat LocusLink and RefSeq merged data July 26, 2002
39. Cerebrospinal fluid levels of neurofilament light in chronic experimental autoimmune encephalomyelitis. Norgren N, etal., Brain Res Bull. 2005 Oct 30;67(4):264-8.
40. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
41. Malnutrition induces an increase in intermediate filament protein content of rat cerebral cortex. Paz MM, etal., J Nutr. 1991 Sep;121(9):1349-54. doi: 10.1093/jn/121.9.1349.
42. Insulin deficiency rather than hyperglycemia accounts for impaired neurotrophic responses and nerve fiber regeneration in type 1 diabetic neuropathy. Pierson CR, etal., J Neuropathol Exp Neurol. 2003 Mar;62(3):260-71.
43. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
44. Neurotrophic effects of GnRH on neurite outgrowth and neurofilament protein expression in cultured cerebral cortical neurons of rat embryos. Quintanar JL and Salinas E, Neurochem Res. 2008 Jun;33(6):1051-6. Epub 2007 Dec 20.
45. GOA pipeline RGD automated data pipeline
46. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
47. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
48. Thyroid hormones stimulate expression and modification of cytoskeletal protein during rat sciatic nerve regeneration. Schenker M, etal., Brain Res. 2002 Dec 13;957(2):259-70.
49. Simultaneous up-regulation of neurofilament proteins during the postnatal development of the rat nervous system. Schlaepfer WW and Bruce J, J Neurosci Res. 1990 Jan;25(1):39-49.
50. [Tetramethylpyrazine accelerated spinal cord repair through regulation of caspase-3 and neurofilament protein expression: an acute spinal cord injury model in rats]. Shen ZX, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Aug;33(8):693-9.
51. Neurofilaments in blood and CSF for diagnosis and prediction of onset in Creutzfeldt-Jakob disease. Steinacker P, etal., Sci Rep. 2016 Dec 8;6:38737. doi: 10.1038/srep38737.
52. Serum Neurofilament Light Chain Levels in the Intensive Care Unit: Comparison between Severely Ill Patients with and without Coronavirus Disease 2019. Sutter R, etal., Ann Neurol. 2021 Mar;89(3):610-616. doi: 10.1002/ana.26004. Epub 2021 Jan 11.
53. Selective solubilization of high-molecular-mass neurofilament subunit during nerve regeneration. Tsuda M, etal., J Neurochem. 2000 Feb;74(2):860-8.
54. Persistent central nervous system immune activation following more than 10 years of effective HIV antiretroviral treatment. Ulfhammer G, etal., AIDS. 2018 Sep 24;32(15):2171-2178. doi: 10.1097/QAD.0000000000001950.
55. Arsenic-induced neurotoxicity in relation to toxicokinetics: effects on sciatic nerve proteins. Vahidnia A, etal., Chem Biol Interact. 2008 Nov 25;176(2-3):188-95. doi: 10.1016/j.cbi.2008.07.001. Epub 2008 Jul 12.
56. Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis. Verde F, etal., J Neurol Neurosurg Psychiatry. 2019 Feb;90(2):157-164. doi: 10.1136/jnnp-2018-318704. Epub 2018 Oct 11.
57. Biomarkers for central nervous system injury in cerebrospinal fluid are elevated in COVID-19 and associated with neurological symptoms and disease severity. Virhammar J, etal., Eur J Neurol. 2020 Dec 28. doi: 10.1111/ene.14703.
58. Changes of cytoskeletal proteins in nerve tissues and serum of rats treated with 2,5-hexanedione. Wang QS, etal., Toxicology. 2008 Feb 28;244(2-3):166-78. Epub 2007 Nov 22.
59. Serum neurofilament light chain in pediatric MS and other acquired demyelinating syndromes. Wong YYM, etal., Neurology. 2019 Sep 3;93(10):e968-e974. doi: 10.1212/WNL.0000000000008057. Epub 2019 Aug 5.
60. Loss of heterozygosity from the short arm of chromosome 8 is associated with invasive behavior in breast cancer. Yaremko ML, etal., Genes Chromosomes Cancer. 1996 Jul;16(3):189-95.
61. Acrylamide alters cytoskeletal protein level in rat sciatic nerves. Yu S, etal., Neurochem Res. 2006 Oct;31(10):1197-204. Epub 2006 Oct 17.
62. Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. Zamoner A, etal., Neurotoxicology. 2008 Nov;29(6):1092-9. doi: 10.1016/j.neuro.2008.09.004. Epub 2008 Sep 18.
63. Cerebrospinal fluid neurofilament light levels in neurodegenerative dementia: Evaluation of diagnostic accuracy in the differential diagnosis of prion diseases. Zerr I, etal., Alzheimers Dement. 2018 Jun;14(6):751-763. doi: 10.1016/j.jalz.2017.12.008. Epub 2018 Feb 3.
64. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Zuchner S, etal., Neuromuscul Disord 2004 Feb;14(2):147-57.
Additional References at PubMed
PMID:2121744   PMID:2493000   PMID:3920075   PMID:3925999   PMID:7745611   PMID:7946341   PMID:8110465   PMID:8344946   PMID:8634266   PMID:8821035   PMID:9398473   PMID:10221457  
PMID:10350642   PMID:10461886   PMID:10884316   PMID:11034913   PMID:11343650   PMID:11487626   PMID:11834298   PMID:12432080   PMID:14561875   PMID:14662745   PMID:15132161   PMID:15193534  
PMID:15242779   PMID:15857389   PMID:15884021   PMID:16920084   PMID:16940710   PMID:17052987   PMID:17634366   PMID:18556119   PMID:19136565   PMID:19646951   PMID:20124353   PMID:22082260  
PMID:22871113   PMID:23106098   PMID:23228886   PMID:25232125   PMID:25869803   PMID:27369073   PMID:29476059   PMID:30987515   PMID:32357304   PMID:33028339   PMID:33727100  


Genomics

Comparative Map Data
Nefl
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81546,477,330 - 46,481,203 (+)NCBIGRCr8
mRatBN7.21542,301,920 - 42,305,793 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1542,301,916 - 42,305,793 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1544,166,607 - 44,170,480 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01545,316,823 - 45,320,696 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01543,762,173 - 43,766,046 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01544,799,378 - 44,803,251 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1544,799,334 - 44,804,574 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01546,793,526 - 46,797,399 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41547,636,303 - 47,640,176 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11547,652,082 - 47,655,956 (+)NCBI
Celera1541,961,053 - 41,964,926 (+)NCBICelera
Cytogenetic Map15p12NCBI
NEFL
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38824,950,955 - 24,956,612 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl824,950,955 - 24,956,721 (-)EnsemblGRCh38hg38GRCh38
GRCh37824,808,468 - 24,814,126 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,864,385 - 24,870,043 (-)NCBINCBI36Build 36hg18NCBI36
Build 34824,866,239 - 24,869,946NCBI
Celera823,772,893 - 23,778,556 (-)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,353,235 - 23,359,150 (-)NCBIHuRef
CHM1_1825,010,797 - 25,016,712 (-)NCBICHM1_1
T2T-CHM13v2.0825,226,443 - 25,232,101 (-)NCBIT2T-CHM13v2.0
Nefl
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391468,321,312 - 68,326,544 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1468,321,312 - 68,326,544 (+)EnsemblGRCm39 Ensembl
GRCm381468,083,863 - 68,089,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1468,083,863 - 68,089,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv371468,701,941 - 68,705,802 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361467,037,214 - 67,041,075 (+)NCBIMGSCv36mm8
Celera1465,851,013 - 65,854,872 (+)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1435.46NCBI
Nefl
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540347,946,353 - 47,952,026 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540347,946,413 - 47,951,734 (-)NCBIChiLan1.0ChiLan1.0
NEFL
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2743,458,273 - 43,464,389 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1819,192,463 - 19,198,032 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0824,218,510 - 24,224,627 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1821,134,533 - 21,140,694 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl821,134,533 - 21,140,694 (-)Ensemblpanpan1.1panPan2
NEFL
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12532,463,361 - 32,468,965 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2532,463,452 - 32,467,224 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2533,046,764 - 33,052,425 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02532,662,329 - 32,667,982 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2532,662,412 - 32,667,975 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12532,617,778 - 32,623,430 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02532,467,208 - 32,472,860 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02532,633,319 - 32,638,980 (+)NCBIUU_Cfam_GSD_1.0
Nefl
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494310,389,433 - 10,393,833 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367571,642,222 - 1,645,697 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367571,642,122 - 1,646,499 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEFL
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl148,991,331 - 8,997,112 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1148,991,321 - 8,996,900 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21410,087,492 - 10,093,071 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NEFL
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1823,077,085 - 23,083,213 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl823,077,086 - 23,083,222 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605219,090,237 - 19,096,168 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nefl
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475820,062,685 - 20,068,609 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475820,063,109 - 20,068,459 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Nefl
5 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:154
Count of miRNA genes:122
Interacting mature miRNAs:132
Transcripts:ENSRNOT00000018599
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1331729Rf42Renal function QTL 423.071kidney blood vessel physiology trait (VT:0100012)absolute change in renal blood flow rate (CMO:0001168)151736289773690657Rat
1641887Alcrsp14Alcohol response QTL 14response to alcohol trait (VT:0010489)brain neurotensin receptor 1 density (CMO:0002068)15142356671Rat
1582227Gluco30Glucose level QTL 303.60.0003blood glucose amount (VT:0000188)absolute change in blood glucose level area under curve (CMO:0002034)152803066582262678Rat
1582228Epfw3Epididymal fat weight QTL 34.10.0002epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)152803066582262678Rat
1578646Bmd18Bone mineral density QTL 185.2femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)152280624098288169Rat
1578647Bmd17Bone mineral density QTL 174femur mineral mass (VT:0010011)total volumetric bone mineral density (CMO:0001728)152280624098288169Rat
10401805Kidm51Kidney mass QTL 51kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1530632945306329Rat
2293686Bmd36Bone mineral density QTL 367.40.0001femur strength trait (VT:0010010)femoral neck ultimate force (CMO:0001703)153361105871477291Rat
2317750Glom26Glomerulus QTL 264.3urine protein amount (VT:0005160)urine protein level (CMO:0000591)151249614165205939Rat
2298549Neuinf12Neuroinflammation QTL 123.5nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)15155302115Rat
2293691Bmd37Bone mineral density QTL 376.60.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)153361105871477291Rat
2293688Bss29Bone structure and strength QTL 295.310.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)151111114256111142Rat
1582214Stl21Serum triglyceride level QTL 213.10.022blood triglyceride amount (VT:0002644)serum triglyceride level (CMO:0000360)152803066582262678Rat
631273Lecl2Lens clarity QTL 20.001lens clarity trait (VT:0001304)age of onset/diagnosis of cataract (CMO:0001584)151059608955596089Rat
1300144Rf23Renal function QTL 233.61renal blood flow trait (VT:2000006)absolute change in renal vascular resistance (CMO:0001900)154063126898288169Rat
2300167Bmd63Bone mineral density QTL 635.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
738017Hcas7Hepatocarcinoma susceptibility QTL 72.91liver integrity trait (VT:0010547)liver nonremodeling tumorous lesion volume to total liver volume ratio (CMO:0001464)15226636846921453Rat
10054130Srcrt8Stress Responsive Cort QTL 82.180.0085blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)152211793367117933Rat
2300173Bmd62Bone mineral density QTL 6212.80.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)151111114256111142Rat
2324620Coatc3Coat color QTL 3coat/hair pigmentation trait (VT:0010463)pigmented coat/hair area to total coat/hair area ratio (CMO:0001810)151985656646187442Rat
61424Scl1Serum cholesterol level QTL 17.70.001blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)151672552880672115Rat
1582251Gluco24Glucose level QTL 243.20.0008blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)15553075650530756Rat
1598828Glom14Glomerulus QTL 142.5kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)153405413979054139Rat
1582242Gluco28Glucose level QTL 283.30.0008blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)152803066582262678Rat
2306968Anxrr23Anxiety related response QTL 234.83reflex trait (VT:0001961)amplitude of the acoustic startle response (CMO:0001520)154063126846187442Rat
1578660Bss19Bone structure and strength QTL 194.3femur morphology trait (VT:0000559)bone trabecular cross-sectional area (CMO:0002311)152280624098288169Rat
1582244Bw79Body weight QTL 7940.0002epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)152803066582262678Rat
7411725Strs7Sensitivity to stroke QTL 73.8cerebrum integrity trait (VT:0010549)percentage of study population developing cerebrovascular lesions during a period of time (CMO:0000932)154028990149308583Rat

Markers in Region
PMC15073P3  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21542,304,641 - 42,305,475 (+)MAPPERmRatBN7.2
Rnor_6.01544,802,100 - 44,802,933NCBIRnor6.0
Rnor_5.01546,793,844 - 46,794,677UniSTSRnor5.0
RGSC_v3.41547,639,025 - 47,639,858UniSTSRGSC3.4
Celera1541,963,775 - 41,964,608UniSTS
Cytogenetic Map15p12UniSTS
Nefl  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21542,304,686 - 42,305,660 (+)MAPPERmRatBN7.2
Rnor_6.01544,802,145 - 44,803,118NCBIRnor6.0
Rnor_5.01546,793,659 - 46,794,632UniSTSRnor5.0
RGSC_v3.41547,639,070 - 47,640,043UniSTSRGSC3.4
Celera1541,963,820 - 41,964,793UniSTS
Cytogenetic Map15p12UniSTS
Nfl  
Rat AssemblyChrPosition (strand)SourceJBrowse
Rnor_5.01546,793,624 - 46,793,811UniSTSRnor5.0
Cytogenetic Map15p12UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
nervous system
renal system
reproductive system
respiratory system
9 8 44 112 71 66 39 21 39 5 180 83 93 41 58 27

Sequence


Ensembl Acc Id: ENSRNOT00000018599   ⟹   ENSRNOP00000018599
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1542,301,916 - 42,305,793 (+)Ensembl
Rnor_6.0 Ensembl1544,799,334 - 44,804,574 (+)Ensembl
RefSeq Acc Id: NM_031783   ⟹   NP_113971
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81546,477,330 - 46,481,203 (+)NCBI
mRatBN7.21542,301,920 - 42,305,793 (+)NCBI
Rnor_6.01544,799,378 - 44,803,251 (+)NCBI
Rnor_5.01546,793,526 - 46,797,399 (-)NCBI
RGSC_v3.41547,636,303 - 47,640,176 (+)RGD
Celera1541,961,053 - 41,964,926 (+)RGD
Sequence:
RefSeq Acc Id: NP_113971   ⟸   NM_031783
- UniProtKB: Q63367 (UniProtKB/Swiss-Prot),   P19527 (UniProtKB/Swiss-Prot),   A6K6Q9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000018599   ⟸   ENSRNOT00000018599
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P19527-F1-model_v2 AlphaFold P19527 1-542 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen

Promoters
RGD ID:13699766
Promoter ID:EPDNEW_R10289
Type:single initiation site
Name:Nefl_1
Description:neurofilament light
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01544,799,343 - 44,799,403EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:621458 AgrOrtholog
BioCyc Gene G2FUF-13296 BioCyc
Ensembl Genes ENSRNOG00000013658 Ensembl, UniProtKB/Swiss-Prot
  ENSRNOG00055006877 UniProtKB/Swiss-Prot
  ENSRNOG00060010521 UniProtKB/Swiss-Prot
  ENSRNOG00065018809 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00000018599.4 UniProtKB/Swiss-Prot
  ENSRNOT00055011317 UniProtKB/Swiss-Prot
  ENSRNOT00060017783 UniProtKB/Swiss-Prot
  ENSRNOT00065031593 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermed_filament_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermediate_filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:83613 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 83613 ENTREZGENE
PANTHER GLIAL FIBRILLARY ACIDIC PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NEUROFILAMENT LIGHT POLYPEPTIDE UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filament_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Nefl PhenoGen
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
RatGTEx ENSRNOG00000013658 RatGTEx
  ENSRNOG00055006877 RatGTEx
  ENSRNOG00060010521 RatGTEx
  ENSRNOG00065018809 RatGTEx
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6K6Q9 ENTREZGENE, UniProtKB/TrEMBL
  A6K6R0_RAT UniProtKB/TrEMBL
  NFL_RAT UniProtKB/Swiss-Prot, ENTREZGENE
  Q63367 ENTREZGENE
UniProt Secondary Q63367 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-04-12 Nefl  neurofilament light chain  Nefl  neurofilament light  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2017-01-17 Nefl  neurofilament light  Nefl  neurofilament, light polypeptide  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2006-03-30 Nefl  neurofilament, light polypeptide  Nfl    Symbol updated 1299863 APPROVED
2002-08-07 Nfl  neurofilament, light polypeptide      Symbol and Name status set to provisional 70820 PROVISIONAL

RGD Curation Notes
Note Type Note Reference
gene_cellular_localization anchored to the actin cytoskeleton 633519
gene_physical_interaction bound specifically by hamartin 633519