Neurofilament light polypeptide

NameNeurofilament light polypeptide
Synonyms68 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 pINone
GO Classification
Functions
    protein binding, bridging
protein C-terminus binding
identical protein binding
structural constituent of cytoskeleton
Processes
    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 guidance
axon transport of mitochondrion
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
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
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.
Transmembrane Regions
GenBank Protein ID
UniProtKB IDP07196
UniProtKB Entry NameNFL_HUMAN
Cellular LocationNone
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 ID
GeneCard IDNone
GenAtlas ID
HGNC IDHGNC:7739
Chromosome Location8
LocusNone
References
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  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 ]
  3. 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 ]
  4. 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 ]
  5. 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 ]
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  7. 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 ]
  8. 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 ]
  9. 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 ]
  10. 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 ]
  11. 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 ]
  12. 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 ]
  13. 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 ]
  14. Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC: The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. PLoS One. 2011;6(12):e29393. doi: 10.1371/journal.pone.0029393. Epub 2011 Dec 19.[22206013 ]
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