NEFL

NEFL
Identifiers
Aliases	NEFL, CMT1F, CMT2E, NF-L, NF68, NFL, PPP1R110, neurofilament, light polypeptide
External IDs	MGI: 97313 HomoloGene: 4487 GeneCards: NEFL
Gene ontology Molecular function • protein binding, bridging • phospholipase binding • protein domain specific binding • structural molecule activity • structural constituent of cytoskeleton • protein C-terminus binding • protein binding • identical protein binding • protein heterodimerization activity • Ras guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • cytosol • neurofilament • growth cone • myelin sheath • TSC1-TSC2 complex • axon • neuron projection • intermediate filament • axon cytoplasm Biological process • negative regulation of neuron apoptotic process • retrograde axonal transport • intermediate filament organization • response to sodium arsenite • neuron projection morphogenesis • protein polymerization • intermediate filament bundle assembly • neuromuscular process controlling balance • neurofilament bundle assembly • response to corticosterone • response to peptide hormone • response to organic substance • positive regulation of axonogenesis • MAPK cascade • anterograde axonal transport • axonal transport of mitochondrion • regulation of axon diameter • peripheral nervous system axon regeneration • locomotion • response to acrylamide • spinal cord development • cerebral cortex development • intermediate filament polymerization or depolymerization • neurofilament cytoskeleton organization • hippocampus development • response to toxic substance • microtubule cytoskeleton organization • positive regulation of GTPase activity • axon development Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4747	18039
Ensembl	ENSG00000277586	ENSMUSG00000022055
UniProt	P07196	P08551
RefSeq (mRNA)	NM_006158	NM_010910
RefSeq (protein)	NP_006149.2	NP_035040.1
Location (UCSC)	Chr 8: 24.95 – 24.96 Mb	Chr 14: 68.08 – 68.09 Mb
PubMed search	[1]	[2]
Wikidata

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Neurofilament light polypeptide is a protein that in humans is encoded by the NEFL gene.^[3][4]

It is associated with Charcot–Marie–Tooth disease 1F and 2E.

See also

• Neurofilament

Interactions

NEFL has been shown to interact with:

• MAP2,^[5]
• Protein kinase N1,^[6] and
• TSC1.^[7]

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN (Jul 2007). "Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene". Arch Neurol. 64 (7): 966–70. doi:10.1001/archneur.64.7.966. PMID 17620486.
4. "Entrez Gene: NEFL neurofilament, light polypeptide 68kDa".
5. Frappier T, Stetzkowski-Marden F, Pradel LA (Apr 1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 ( Pt 2): 521–7. PMC 1150082. PMID 1902666.
6. Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (Apr 1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID 8621664.
7. Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C, Ramesh V (Nov 2002). "The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton". J. Biol. Chem. 277 (46): 44180–6. doi:10.1074/jbc.M207211200. PMID 12226091.

Further reading

• Hirokawa N, Takeda S (1998). "Gene Targeting Studies Begin to Reveal the Function of Neurofilament Proteins". J. Cell Biol. 143 (1): 1–4. doi:10.1083/jcb.143.1.1. PMC 2132816. PMID 9763415.
• Beaudet L, Charron G, Julien JP (1992). "Origin of the two mRNA species for the human neurofilament light gene". Biochem. Cell Biol. 70 (5): 279–84. doi:10.1139/o92-044. PMID 1497855.
• Frappier T, Stetzkowski-Marden F, Pradel LA (1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. 275 ( Pt 2) (Pt 2): 521–7. PMC 1150082. PMID 1902666.
• Chin SS, Liem RK (1990). "Expression of rat neurofilament proteins NF-L and NF-M in transfected non-neuronal cells". Eur. J. Cell Biol. 50 (2): 475–90. PMID 2516804.
• Julien JP, Grosveld F, Yazdanbaksh K, Flavell D, Meijer D, Mushynski W (1987). "The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family". Biochim. Biophys. Acta. 909 (1): 10–20. doi:10.1016/0167-4781(87)90041-8. PMID 3034332.
• Hurst J, Flavell D, Julien JP, Meijer D, Mushynski W, Grosveld F (1987). "The human neurofilament gene (NEFL) is located on the short arm of chromosome 8". Cytogenet. Cell Genet. 45 (1): 30–2. doi:10.1159/000132421. PMID 3036423.
• Frappier T, Regnouf F, Pradel LA (1988). "Binding of brain spectrin to the 70-kDa neurofilament subunit protein". Eur. J. Biochem. 169 (3): 651–7. doi:10.1111/j.1432-1033.1987.tb13657.x. PMID 3121319.
• Nomata Y, Watanabe T, Wada H (1983). "Highly acidic proteins from human brain: purification and properties of Glu-50 protein". J. Biochem. 93 (3): 825–31. doi:10.1093/jb/93.3.825. PMID 6135695.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Pospelov VA, Pospelova TV, Julien JP (1994). "AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells". Cell Growth Differ. 5 (2): 187–96. PMID 8180132.
• Dong DL, Xu ZS, Chevrier MR, Cotter RJ, Cleveland DW, Hart GW (1993). "Glycosylation of mammalian neurofilaments. Localization of multiple O-linked N-acetylglucosamine moieties on neurofilament polypeptides L and M". J. Biol. Chem. 268 (22): 16679–87. PMID 8344946.
• Charron G, Guy LG, Bazinet M, Julien JP (1996). "Multiple neuron-specific enhancers in the gene coding for the human neurofilament light chain". J. Biol. Chem. 270 (51): 30604–10. doi:10.1074/jbc.270.51.30604. PMID 8530496.
• Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y (1996). "PKN associates and phosphorylates the head-rod domain of neurofilament protein". J. Biol. Chem. 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. PMID 8621664.
• Rosengren LE, Karlsson JE, Karlsson JO, Persson LI, Wikkelsø C (1996). "Patients with amyotrophic lateral sclerosis and other neurodegenerative diseases have increased levels of neurofilament protein in CSF". J. Neurochem. 67 (5): 2013–8. doi:10.1046/j.1471-4159.1996.67052013.x. PMID 8863508.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Athlan ES, Mushynski WE (1998). "Heterodimeric associations between neuronal intermediate filament proteins". J. Biol. Chem. 272 (49): 31073–8. doi:10.1074/jbc.272.49.31073. PMID 9388258.
• Ehlers MD, Fung ET, O'Brien RJ, Huganir RL (1998). "Splice variant-specific interaction of the NMDA receptor subunit NR1 with neuronal intermediate filaments". J. Neurosci. 18 (2): 720–30. PMID 9425014.
• Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000). "A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene". Am. J. Hum. Genet. 67 (1): 37–46. doi:10.1086/302962. PMC 1287099. PMID 10841809.
• De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001). "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E". Ann. Neurol. 49 (2): 245–9. doi:10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A. PMID 11220745.

External links

• Bird, Thomas D (2013-11-07). Charcot-Marie-Tooth Neuropathy Type 1. NBK1205. In Pagon RA, Bird TD, Dolan CR, et al., eds. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. Check date values in: |date= (help)
• Bird, Thomas D (30 January 2014). Charcot-Marie-Tooth Neuropathy Type 2. PMID 20301462. NBK1285. In GeneReviews
• De Jonghe, Peter; Jordanova, Albena K (2011-10-27). Charcot-Marie-Tooth Neuropathy Type 2E/1F. NBK1187. In GeneReviews