NEFL

Neurofilament, light polypeptide
Identifiers
SymbolsNEFL ; CMT1F; CMT2E; NF-L; NF68; NFL
External IDsOMIM: 162280 MGI: 97313 HomoloGene: 4487 GeneCards: NEFL Gene
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez474718039
EnsemblENSG00000256228ENSMUSG00000022055
UniProtP07196P08551
RefSeq (mRNA)NM_006158NM_010910
RefSeq (protein)NP_006149NP_035040
Location (UCSC)Chr 8:
24.81 – 24.81 Mb		Chr 14:
68.08 – 68.09 Mb
PubMed search

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

Interactions

NEFL has been shown to interact with:

References

  1. ↑ Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M et al. (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".
  3. ↑ 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.
  4. ↑ Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M et al. (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.
  5. ↑ Haddad LA, Smith N, Bowser M, Niida Y, Murthy V, Gonzalez-Agosti C et al. (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 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, 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 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.
  • De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C 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