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Index > Protein center > NEFL(Gene name) > Human
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  • NEFL (Gene name),
  • Neurofilament light polypeptide (Protein name ),  NFL_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    NEFL(NF68;NFL);
    Protein name:
    Neurofilament light polypeptide(NF-L);
    Alternative:
    Neurofilament triplet L protein;68 kDa neurofilament protein;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with RGNEF (By similarity). Interacts with TRIM2.
    Function:
    Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.
    Subcellular Location:
    N/A
    Protein Attributes:
    Sequence length:
    543
    Sequence:
    50:
    MSSFSYEPYY | STSYKRRYVE | TPRVHISSVR | SGYSTARSAY | SSYSAPVSSS | 
    100:
    LSVRRSYSSS | SGSLMPSLEN | LDLSQVAAIS | NDLKSIRTQE | KAQLQDLNDR | 
    150:
    FASFIERVHE | LEQQNKVLEA | ELLVLRQKHS | EPSRFRALYE | QEIRDLRLAA | 
    200:
    EDATNEKQAL | QGEREGLEET | LRNLQARYEE | EVLSREDAEG | RLMEARKGAD | 
    250:
    EAALARAELE | KRIDSLMDEI | SFLKKVHEEE | IAELQAQIQY | AQISVEMDVT | 
    300:
    KPDLSAALKD | IRAQYEKLAA | KNMQNAEEWF | KSRFTVLTES | AAKNTDAVRA | 
    350:
    AKDEVSESRR | LLKAKTLEIE | ACRGMNEALE | KQLQELEDKQ | NADISAMQDT | 
    400:
    INKLENELRT | TKSEMARYLK | EYQDLLNVKM | ALDIEIAAYR | KLLEGEETRL | 
    450:
    SFTSVGSITS | GYSQSSQVFG | RSAYGGLQTS | SYLMSTRSFP | SYYTSHVQEE | 
    500:
    QIEVEETIEA | AKAEEAKDEP | PSEGEAEEEE | KDKEEAEEEE | AAEEEEAAKE | 
    543:
    ESEEAKEEEE | GGEGEEGEET | KEAEEEEKKV | EGAGEEQAAK | KKD
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    KEGG:
    UniGene:
    String:
    Pfam:
    SMR:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human NF-L
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    ELISA Kit for Human NF-L
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    ELISA Kit for Human NF-L
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    ELISA Kit for Human NF-L
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    ELISA Kit for Human NF-L
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    CLIA Kit for Human NF-L
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    CLIA Kit for Human NF-L
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    CLIA Kit for Human NF-L
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    CLIA Kit for Human NF-L
    Cat.:
    U10709h
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    MSDS:
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    Packing:
    96T
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    CLIA Kit for Human NF-L
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    U10709r
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    Packing:
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    Polyclonal Antibody for Human NF-L
    Polyclonal Antibody for Human NF-L
    Cat.:
    P10709Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human NF-L
    Polyclonal Antibody for Human NF-L
    Polyclonal Antibody for Human NF-L
    Monoclonal Antibody for Human NF-L
    Monoclonal Antibody for Human NF-L
    Monoclonal Antibody for Human NF-L
    Monoclonal Antibody for Human NF-L
    Monoclonal Antibody for Human NF-L
    Protein for Human NF-L
    Protein for Human NF-L
    Protein for Human NF-L
    Protein for Human NF-L
    Protein for Human NF-L

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family."
      Julien J.-P. , Grosveld F. , Yazdanbaksh K. , Flavell D. , Meijer D. , Mushynski W.
      Biochim. Biophys. Acta909:10-20(1987) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    2. 2.
      "Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation."
      Perez-Olle R. , Leung C.L. , Liem R.K.
      J. Cell Sci.115:4937-4946(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    3. 4.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    4. 5.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Brain.
    5. 6.
      "AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells."
      Pospelov V.A. , Pospelova T.V. , Julien J.-P.
      Cell Growth Differ.5:187-196(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-11
    6. 7.
      Lubec G. , Chen W.-Q. , Sun Y.
      Submitted (2008-12) to the UniProtKB
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 38-54; 213-224; 340-353; 380-390 AND 422-437;IDENTIFICATION BY MASS SPECTROMETRY
      tissue: Fetal brain cortex.
    7. 8.
      "Highly acidic proteins from human brain: purification and properties of Glu-50 protein."
      Nomata Y. , Watanabe T. , Wada H.
      J. Biochem.93:825-831(1983) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 468-473
      tissue: Brain.
    8. 9.
      "PKN associates and phosphorylates the head-rod domain of neurofilament protein."
      Mukai H. , Toshimori M. , Shibata H. , Kitagawa M. , Shimakawa M. , Miyahara M. , Sunakawa H. , Ono Y.
      J. Biol. Chem.271:9816-9822(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION BY PKN1
    9. 10.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    10. 11.
      "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
      Bienvenut W.V. , Sumpton D. , Martinez A. , Lilla S. , Espagne C. , Meinnel T. , Giglione C.
      Mol. Cell. Proteomics11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS]
    11. 12.
      "A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene."
      Mersiyanova I.V. , Perepelov A.V. , Polyakov A.V. , Sitnikov V.F. , Dadali E.L. , Oparin R.B. , Petrin A.N. , Evgrafov O.V.
      Am. J. Hum. Genet.67:37-46(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT2E PRO-332
    12. 13.
      "Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E."
      De Jonghe P. , Mersivanova I. , Nelis E. , Del Favero J. , Martin J.-J. , Van Broeckhoven C. , Evgrafov O. , Timmerman V.
      Ann. Neurol.49:245-249(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT2E ARG-8
    13. 14.
      "A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family."
      Georgiou D.-M. , Zidar J. , Korosec M. , Middleton L.T. , Kyriakides T. , Christodoulou K.
      Neurogenetics4:93-96(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT2E SER-22
    14. 15.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT1F ARG-8; LEU-8; GLN-8; LYS-90; SER-98 AND GLU-527 DEL;VARIANTS LYS-7 AND ASN-468
    15. 16.
      "Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients."
      Choi B.-O. , Lee M.S. , Shin S.H. , Hwang J.H. , Choi K.-G. , Kim W.-K. , Sunwoo I.N. , Kim N.K. , Chung K.W.
      Hum. Mutat.24:185-186(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT2E PRO-336;VARIANT CMT1F LYS-396
    16. 17.
      "The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy."
      Zuechner S. , Vorgerd M. , Sindern E. , Schroeder J.M.
      Neuromuscul. Disord.14:147-157(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CMT1F LYS-396
    17. 18.
      "The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan."
      Lin K.P. , Soong B.W. , Yang C.C. , Huang L.W. , Chang M.H. , Lee I.H. , Antonellis A. , Lee Y.C.
      PLoS ONE6:E29393-E29393(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CMT2E ARG-8; SER-22 AND LYS-396
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