T3DB: Neurofilament light polypeptide

Name	Neurofilament light polypeptide
Synonyms	68 kDa neurofilament protein Neurofilament triplet L protein NF-L NF68 NFL
Gene Name	NEFL
Organism	Human
Amino acid sequence	>lcl\|BSEQ0019703\|Neurofilament light polypeptide MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSS SGSLMPSLENLDLSQVAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEA ELLVLRQKHSEPSRFRALYEQEIRDLRLAAEDATNEKQALQGEREGLEETLRNLQARYEE EVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKKVHEEEIAELQAQIQY AQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRT TKSEMARYLKEYQDLLNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFG RSAYGGLQTSSYLMSTRSFPSYYTSHVQEEQIEVEETIEAAKAEEAKDEPPSEGEAEEEE KDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEEEEKKVEGAGEEQAAK KKD
Number of residues	543
Molecular Weight	61515.95
Theoretical pI	Not Available
GO Classification	Functions identical protein binding protein binding, bridging structural constituent of cytoskeleton protein C-terminus binding Processes Fc-epsilon receptor signaling pathway activation of MAPKK activity cerebral cortex development fibroblast growth factor receptor signaling pathway microtubule cytoskeleton organization insulin receptor signaling pathway anterograde axon cargo transport MAPK cascade intermediate filament organization neurotrophin TRK receptor signaling pathway protein polymerization peripheral nervous system axon regeneration Ras protein signal transduction small GTPase mediated signal transduction vascular endothelial growth factor receptor signaling pathway synaptic transmission neurofilament bundle assembly response to toxic substance response to acrylamide response to sodium arsenite spinal cord development positive regulation of axonogenesis hippocampus development retrograde axon cargo transport axon transport of mitochondrion response to corticosterone axon guidance intermediate filament polymerization or depolymerization negative regulation of neuron apoptotic process epidermal growth factor receptor signaling pathway regulation of axon diameter neuromuscular process controlling balance innate immune response Components axon cytoplasm neurofilament growth cone cytosol myelin sheath
General Function	Structural constituent of cytoskeleton
Specific Function	Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.
Pfam Domain Function	Filament (PF00038 ) Filament_head (PF04732 )
Transmembrane Regions	Not Available
GenBank Protein ID	Not Available
UniProtKB ID	P07196
UniProtKB Entry Name	NFL_HUMAN
Cellular Location	Not 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 ID	Not Available
GeneCard ID	Not Available
GenAtlas ID	Not Available
HGNC ID	HGNC:7739
Chromosome Location	8
Locus	Not Available
References	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 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 Nusbaum C, Mikkelsen TS, Zody MC, Asakawa S, Taudien S, Garber M, Kodira CD, Schueler MG, Shimizu A, Whittaker CA, Chang JL, Cuomo CA, Dewar K, FitzGerald MG, Yang X, Allen NR, Anderson S, Asakawa T, Blechschmidt K, Bloom T, Borowsky ML, Butler J, Cook A, Corum B, DeArellano K, DeCaprio D, Dooley KT, Dorris L 3rd, Engels R, Glockner G, Hafez N, Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A, Kudoh J, Lehmann R, Lokitsang T, Macdonald P, Major JE, Matthews CD, Mauceli E, Menzel U, Mihalev AH, Minoshima S, Murayama Y, Naylor JW, Nicol R, Nguyen C, O'Leary SB, O'Neill K, Parker SC, Polley A, Raymond CK, Reichwald K, Rodriguez J, Sasaki T, Schilhabel M, Siddiqui R, Smith CL, Sneddon TP, Talamas JA, Tenzin P, Topham K, Venkataraman V, Wen G, Yamazaki S, Young SK, Zeng Q, Zimmer AR, Rosenthal A, Birren BW, Platzer M, Shimizu N, Lander ES: DNA sequence and analysis of human chromosome 8. Nature. 2006 Jan 19;439(7074):331-5. 16421571 Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. 15489334 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 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 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 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 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 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 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 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 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 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 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 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