Tmic
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NameNeurofilament light polypeptide
Synonyms
  • 68 kDa neurofilament protein
  • Neurofilament triplet L protein
  • NF-L
  • NF68
  • NFL
Gene NameNEFL
OrganismHuman
Amino acid sequence
>lcl|BSEQ0019703|Neurofilament light polypeptide
MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS
SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA
ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE
EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY
AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT
TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG
RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE
KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK
KKD
Number of residues543
Molecular Weight61515.95
Theoretical pINot Available
GO Classification
Functions
  • structural constituent of cytoskeleton
  • protein binding, bridging
  • protein C-terminus binding
  • identical protein binding
Processes
  • response to corticosterone
  • synaptic transmission
  • neurofilament bundle assembly
  • fibroblast growth factor receptor signaling pathway
  • negative regulation of neuron apoptotic process
  • response to acrylamide
  • insulin receptor signaling pathway
  • neuromuscular process controlling balance
  • response to sodium arsenite
  • MAPK cascade
  • positive regulation of axonogenesis
  • neurotrophin TRK receptor signaling pathway
  • retrograde axon cargo transport
  • Ras protein signal transduction
  • cerebral cortex development
  • axon transport of mitochondrion
  • axon guidance
  • vascular endothelial growth factor receptor signaling pathway
  • microtubule cytoskeleton organization
  • epidermal growth factor receptor signaling pathway
  • intermediate filament polymerization or depolymerization
  • response to toxic substance
  • anterograde axon cargo transport
  • innate immune response
  • regulation of axon diameter
  • intermediate filament organization
  • Fc-epsilon receptor signaling pathway
  • spinal cord development
  • protein polymerization
  • peripheral nervous system axon regeneration
  • hippocampus development
  • small GTPase mediated signal transduction
  • activation of MAPKK activity
Components
  • cytosol
  • axon
  • myelin sheath
  • growth cone
  • cytoplasm
  • neurofilament
General FunctionStructural constituent of cytoskeleton
Specific FunctionNeurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.
Pfam Domain Function
Transmembrane RegionsNot Available
GenBank Protein IDNot Available
UniProtKB IDP07196
UniProtKB Entry NameNFL_HUMAN
Cellular LocationNot Available
Gene sequence
>lcl|BSEQ0019704|Neurofilament light polypeptide (NEFL)
ATGAGTTCCTTCAGCTACGAGCCGTACTACTCGACCTCCTACAAGCGGCGCTACGTGGAG
ACGCCCCGGGTGCACATCTCCAGCGTGCGCAGCGGCTACAGCACCGCACGCTCAGCTTAC
TCCAGCTACTCGGCGCCGGTGTCTTCCTCGCTGTCCGTGCGCCGCAGCTACTCCTCCAGC
TCTGGATCGTTGATGCCCAGTCTGGAGAACCTCGACCTGAGCCAGGTAGCCGCCATCAGC
AACGACCTCAAGTCCATCCGCACGCAGGAGAAGGCGCAGCTCCAGGACCTCAATGACCGC
TTCGCCAGCTTCATCGAGCGCGTGCACGAGCTGGAGCAGCAGAACAAGGTCCTGGAAGCC
GAGCTGCTGGTGCTGCGCCAGAAGCACTCCGAGCCATCCCGCTTCCGGGCGCTGTACGAG
CAGGAGATCCGCGACCTGCGCCTGGCGGCGGAAGATGCCACCAACGAGAAGCAGGCGCTC
CAGGGCGAGCGCGAAGGGCTGGAGGAGACCCTGCGCAACCTGCAGGCGCGCTATGAAGAG
GAGGTGCTGAGCCGCGAGGACGCCGAGGGCCGGCTGATGGAAGCGCGCAAAGGCGCCGAC
GAGGCGGCGCTCGCTCGCGCCGAGCTCGAGAAGCGCATCGACAGCTTGATGGACGAAATC
TCTTTTCTGAAGAAAGTGCACGAAGAGGAGATCGCCGAACTGCAGGCGCAGATCCAGTAC
GCGCAGATCTCCGTGGAGATGGACGTGACCAAGCCCGACCTTTCCGCCGCGCTCAAGGAC
ATCCGCGCGCAGTACGAGAAGCTGGCCGCCAAGAACATGCAGAACGCTGAGGAATGGTTC
AAGAGCCGCTTCACCGTGCTGACCGAGAGCGCCGCCAAGAACACCGACGCCGTGCGCGCC
GCCAAGGACGAGGTGTCCGAGAGCCGTCGTCTGCTCAAGGCCAAGACCCTGGAAATCGAA
GCATGCCGGGGCATGAATGAAGCGCTGGAGAAGCAGCTGCAGGAGCTGGAGGACAAGCAG
AACGCCGACATCAGCGCTATGCAGGACACGATCAACAAATTAGAAAATGAATTGAGGACC
ACAAAGAGTGAAATGGCACGATACCTAAAAGAATACCAAGACCTCCTCAACGTGAAGATG
GCTTTGGATATTGAGATTGCAGCTTACAGGAAACTCTTGGAAGGCGAGGAGACCCGACTC
AGTTTCACCAGCGTGGGAAGCATAACCAGTGGCTACTCCCAGAGCTCCCAGGTCTTTGGC
CGATCTGCCTACGGCGGTTTACAGACCAGCTCCTATCTGATGTCCACCCGCTCCTTCCCG
TCCTACTACACCAGCCATGTCCAAGAGGAGCAGATCGAAGTGGAGGAAACCATTGAGGCT
GCCAAGGCTGAGGAAGCCAAGGATGAGCCCCCCTCTGAAGGAGAAGCCGAGGAGGAGGAG
AAGGACAAGGAAGAGGCCGAGGAAGAGGAGGCAGCTGAAGAGGAAGAAGCTGCCAAGGAA
GAGTCTGAAGAAGCAAAAGAAGAAGAAGAAGGAGGTGAAGGTGAAGAAGGAGAGGAAACC
AAAGAAGCTGAAGAGGAGGAGAAGAAAGTTGAAGGTGCTGGGGAGGAACAAGCAGCTAAG
AAGAAAGATTGA
GenBank Gene IDNot Available
GeneCard IDNot Available
GenAtlas IDNot Available
HGNC IDHGNC:7739
Chromosome Location8
LocusNot Available
References
  1. Julien JP, Grosveld F, Yazdanbaksh K, Flavell D, Meijer D, Mushynski W: The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family. Biochim Biophys Acta. 1987 Jun 6;909(1):10-20. 3034332
  2. Perez-Olle R, Leung CL, Liem RK: Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. J Cell Sci. 2002 Dec 15;115(Pt 24):4937-46. 12432080
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  5. Pospelov VA, Pospelova TV, Julien JP: AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells. Cell Growth Differ. 1994 Feb;5(2):187-96. 8180132
  6. Nomata Y, Watanabe T, Wada H: Highly acidic proteins from human brain: purification and properties of Glu-50 protein. J Biochem. 1983 Mar;93(3):825-31. 6135695
  7. Mukai H, Toshimori M, Shibata H, Kitagawa M, Shimakawa M, Miyahara M, Sunakawa H, Ono Y: PKN associates and phosphorylates the head-rod domain of neurofilament protein. J Biol Chem. 1996 Apr 19;271(16):9816-22. 8621664
  8. Burkard TR, Planyavsky M, Kaupe I, Breitwieser FP, Burckstummer T, Bennett KL, Superti-Furga G, Colinge J: Initial characterization of the human central proteome. BMC Syst Biol. 2011 Jan 26;5:17. doi: 10.1186/1752-0509-5-17. 21269460
  9. Bienvenut WV, Sumpton D, Martinez A, Lilla S, Espagne C, Meinnel T, Giglione C: Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-alpha-acetylation features. Mol Cell Proteomics. 2012 Jun;11(6):M111.015131. doi: 10.1074/mcp.M111.015131. Epub 2012 Jan 5. 22223895
  10. Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV: 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. 2000 Jul;67(1):37-46. Epub 2000 Jun 7. 10841809
  11. De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V: Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol. 2001 Feb;49(2):245-9. 11220745
  12. Georgiou DM, Zidar J, Korosec M, Middleton LT, Kyriakides T, Christodoulou K: A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics. 2002 Oct;4(2):93-6. 12481988
  13. Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos SCh, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V: Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003 Mar;126(Pt 3):590-7. 12566280
  14. Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat. 2004 Aug;24(2):185-6. 15241803
  15. Zuchner S, Vorgerd M, Sindern E, Schroder JM: The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul Disord. 2004 Feb;14(2):147-57. 14733962
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