NEFL

For the semi-professional football league NEFL, see New England Football League.

Neurofilament, light polypeptide
Identifiers
Symbols	NEFL; CMT1F; CMT2E; FLJ53642; NF-L; NF68; NFL
External IDs	OMIM: 162280 MGI: 97313 HomoloGene: 4487 GeneCards: NEFL Gene
Gene Ontology Molecular function • structural constituent of cytoskeleton • protein binding • protein C-terminus binding • protein domain specific binding • identical protein binding • phospholipase binding Cellular component • cytosol • neurofilament • axon • TSC1-TSC2 complex Biological process • microtubule cytoskeleton organization • synaptic transmission • anterograde axon cargo transport • retrograde axon cargo transport • response to toxin • response to organic nitrogen • peripheral nervous system axon regeneration • axon transport of mitochondrion • regulation of axon diameter • neurofilament bundle assembly • neurofilament bundle assembly • locomotion • response to peptide hormone stimulus • negative regulation of neuron apoptosis • intermediate filament organization • neuron projection morphogenesis • positive regulation of axonogenesis • neuromuscular process controlling balance • protein polymerization • response to corticosterone stimulus Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4747	18039
Ensembl	ENSG00000256228	ENSMUSG00000022055
UniProt	P07196	Q05DD2
RefSeq (mRNA)	NM_006158	NM_010910.1
RefSeq (protein)	NP_006149	NP_035040.1
Location (UCSC)	Chr 8: 24.81 – 24.81 Mb	Chr 14: 68.7 – 68.71 Mb
PubMed search	[1]	[2]

Neurofilament light polypeptide is a protein that in humans is encoded by the NEFL gene.^[1][2]

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

See also

• Neurofilament

Interactions

NEFL has been shown to interact with MAP2,^[3] Protein kinase N1^[4] and TSC1.^[5]

References

1. ^ Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Loscher 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. 
2. ^ "Entrez Gene: NEFL neurofilament, light polypeptide 68kDa". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4747. 
3. ^ Frappier, T; Stetzkowski-Marden F, Pradel L A (Apr. 1991). "Interaction domains of neurofilament light chain and brain spectrin". Biochem. J. (ENGLAND) 275 ( Pt 2) (Pt 2): 521–7. ISSN 0264-6021. PMC 1150082. PMID 1902666. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1150082. 
4. ^ 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. (UNITED STATES) 271 (16): 9816–22. doi:10.1074/jbc.271.16.9816. ISSN 0021-9258. PMID 8621664. 
5. ^ Haddad, Luciana A; Smith Nicole, Bowser Mark, Niida Yo, Murthy Vanishree, Gonzalez-Agosti Charo, Ramesh Vijaya (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. (United States) 277 (46): 44180–6. doi:10.1074/jbc.M207211200. ISSN 0021-9258. 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2132816. 
• 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1150082. 
• 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, et al. (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. PMID 3034332. 
• Hurst J, Flavell D, Julien JP, et al. (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, et al. (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, et al. (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, et al. (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, et al. (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, et al. (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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1287099. 
• De Jonghe P, Mersivanova I, Nelis E, et al. (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

• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 1
• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2
• GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 2E/1F