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FLASH GENE
Symbol NEFL contributors: mct/pgu - updated : 23-04-2012
HGNC name neurofilament, light polypeptide
HGNC id 7739
Corresponding disease
CMT1F Charcot-Marie-Tooth disease type 1F
CMT2E Charcot-Marie-Tooth disease, axonal, type 2 E
Location 8p21.2      Physical location : 24.808.470 - 24.814.131
Synonym name
  • neurofilament, light polypeptide 68kDa
  • neurofilament triplet L protein
  • light molecular weight neurofilament protein
  • neurofilament subunit NF-L
  • Synonym symbol(s) NF-L, NF68, NFL
    DNA
    TYPE functioning gene
    STRUCTURE 5.66 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Map pter - NEFL - GTF2E2 - D8S137 - D8S131 - D8S339 - [D8S540 /PPP2CB ] - D8S124 - D8S278 - NRG1 - D8S259 - [D8S513 /D8S283 ] - D8S535 - D8S505 - D8S87 - ADRB3 ADRB3 - FGFR1 - D8S255 - cen
    Physical map
    TNFRSF10A 8p21 tumor necrosis factor receptor superfamily, member 10a LOC389641 8 hypothetical gene supported by AK124295 MGC29816 8p21.2 hypothetical protein MGC29816 LOC203069 8p21.2 hypothetical protein LOC203069 LOXL2 8p21.3-p21.2 lysyl oxidase-like 2 LYSAL1 8p22-p21.3 lysosomal apyrase-like 1 MSCP 8p21.2 mitochondrial solute carrier protein PRO1496 8p21.2 hypothetical protein PRO1496 LOC389642 8 LOC389642 NKX3-1 8p21 NK3 transcription factor related, locus 1 (Drosophila) LOC137814 8p21.2 similar to homeobox protein NKX2-6 STC1 8p21-p11.2 stanniocalcin 1 ADAM28 8p21.3-p12 a disintegrin and metalloproteinase domain 28 ADAMDEC1 8p21.1 ADAM-like, decysin 1 ADAM7 8p21.2 a disintegrin and metalloproteinase domain 7 NEF3 8p22-p21 neurofilament 3 (150kDa medium) NEFL 8p21 neurofilament, light polypeptide 68kDa LOC286061 8p21.2 hypothetical protein LOC286061 DOCK5 8p21.2 dedicator of cytokinesis 5 GNRH1 8p21-p12 gonadotropin-releasing hormone 1 (leutinizing-releasing hormone) KCTD9 8p21.1 potassium channel tetramerisation domain containing 9 CDCA2 8p12-21 cell division cycle associated 2 EBF2 8p21.1 early B-cell factor 2 PPP2R2A 8p21.1 protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform LOC157489 8p21.1 similar to hypothetical protein FLJ10498 BNIP3L 8p21 BCL2/adenovirus E1B 19kDa interacting protein 3-like PNMA2 8p21.1 paraneoplastic antigen MA2 LOC338097 8p21 proteasome activator subunit 2 pseudogene DPYSL2 8p21 dihydropyrimidinase-like 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 3602 61.5 543 - 2008 18023247
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear   highly
    Nervousbrain   highly
    Reproductivemale systemtestis  highly
    Urinarykidney   highly
    Visualeye   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a globular head domain important for the formation of filamentous network
  • a central coiled coil rod region
  • a C terminal globular tail domain
  • mono polymer polymer
    HOMOLOGY
    Homologene
    FAMILY
  • intermediate filament family, type IV
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    basic FUNCTION
  • neurofilament assembly and regulation of expression of other neurofilaments
  • plays a pivotal function in the assembly and maintenance of axonal cytoskeleton. playing a a role in regulating neuronal development, specifically neurite outgrowth
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • light polypeptide constituent of neurofilament
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TSC1
  • direct target of the inhibitor of histone acetyltransferase ANP32P
  • interaction with TARDBP (stabilizes NEFL mRNA through a direct interaction with the 3'UTr)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CMT2E , CMT1F
    related resource Mutation Database of Inherited Peripheral Neuropathies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • hNF-LP22S;tTa transgenic (tg) mice recapitulated key features of CMT2E disease, including aberrant hindlimb posture, motor deficits, hypertrophy of muscle fibres and loss of muscle innervation without neuronal loss, and normal distribution of NF proteins along the sciatic nerve of hNF-LP22S; tTa mice was restored upon treatment with doxycycline
  • hNF-LE397K mice display progressive muscle atrophy in hind limb muscles without denervation