ID:NFL_HUMAN DESCRIPTION: RecName: Full=Neurofilament light polypeptide; Short=NF-L; AltName: Full=68 kDa neurofilament protein; AltName: Full=Neurofilament triplet L protein; FUNCTION: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. SUBUNIT: Interacts with ARHGEF28 (By similarity). Interacts with TRIM2 (By similarity). INTERACTION: Q13614:MTMR2; NbExp=2; IntAct=EBI-475646, EBI-475631; DOMAIN: The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions. PTM: O-glycosylated (By similarity). PTM: Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization. PTM: Ubiquitinated in the presence of TRIM2 and UBE2D1 (By similarity). DISEASE: Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]. CMT1F is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years). DISEASE: Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]. CMT2E is an autosomal dominant form of Charcot-Marie-Tooth disease type 2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. MISCELLANEOUS: NF-L is the most abundant of the three neurofilament proteins and, like the other nonepithelial intermediate filament proteins, it can form homopolymeric 10-nm filaments. SIMILARITY: Belongs to the intermediate filament family. WEB RESOURCE: Name=Inherited peripheral neuropathies mutation db; URL="http://www.molgen.ua.ac.be/CMTMutations/"; WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEFL";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P07196
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BC037803 - Homo sapiens cDNA clone IMAGE:4796752. AK075003 - Homo sapiens cDNA FLJ90522 fis, clone NT2RP4000108, highly similar to Neurofilament triplet L protein. AK127430 - Homo sapiens cDNA FLJ45522 fis, clone BRTHA2025869, highly similar to Neurofilament triplet L protein. BC039237 - Homo sapiens neurofilament, light polypeptide, mRNA (cDNA clone MGC:32648 IMAGE:4280159), complete cds. AL713644 - Homo sapiens mRNA; cDNA DKFZp761K0922 (from clone DKFZp761K0922). AK225975 - Homo sapiens mRNA for Neurofilament triplet L protein variant, clone: FCC112D04. BC066952 - Homo sapiens neurofilament, light polypeptide, mRNA (cDNA clone MGC:87388 IMAGE:5264373), complete cds. AK057731 - Homo sapiens cDNA FLJ25002 fis, clone CBL00553, highly similar to NEUROFILAMENT TRIPLET L PROTEIN. AK299095 - Homo sapiens cDNA FLJ53642 complete cds, highly similar to Neurofilament triplet L protein. DQ593936 - Homo sapiens piRNA piR-60048, complete sequence. AY156690 - Homo sapiens light molecular weight neurofilament protein (NEFL) mRNA, complete cds. AK314591 - Homo sapiens cDNA, FLJ95425. DQ892646 - Synthetic construct clone IMAGE:100005276; FLH188598.01X; RZPDo839E0173D neurofilament, light polypeptide 68kDa (NEFL) gene, encodes complete protein. DQ895884 - Synthetic construct Homo sapiens clone IMAGE:100010344; FLH188594.01L; RZPDo839E0163D neurofilament, light polypeptide 68kDa (NEFL) gene, encodes complete protein. AB463926 - Synthetic construct DNA, clone: pF1KB8148, Homo sapiens NEFL gene for neurofilament, light polypeptide 68kDa, without stop codon, in Flexi system. DQ587097 - Homo sapiens piRNA piR-54209, complete sequence. KU178228 - Homo sapiens neurofilament light polypeptide isoform 1 (NEFL) mRNA, partial cds, alternatively spliced. KU178229 - Homo sapiens neurofilament light polypeptide isoform 2 (NEFL) mRNA, partial cds. KJ901599 - Synthetic construct Homo sapiens clone ccsbBroadEn_10993 NEFL gene, encodes complete protein. CU688222 - Synthetic construct Homo sapiens gateway clone IMAGE:100021094 5' read NEFL mRNA. U57341 - Human neurofilament triplet L protein mRNA, partial cds. CU691684 - Synthetic construct Homo sapiens gateway clone IMAGE:100022310 5' read NEFL mRNA. DQ576794 - Homo sapiens piRNA piR-44906, complete sequence. JD031368 - Sequence 12392 from Patent EP1572962. JD025322 - Sequence 6346 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein P07196 (Reactome details) participates in the following event(s):
R-HSA-432172 Activation of NMDA receptor R-HSA-432162 Unblocking of NMDA receptor R-HSA-442760 Activation of RasGRF R-HSA-432164 Ca2+ influx into the post-synaptic cell R-HSA-445367 CaMKII enters cytoplasm R-HSA-442732 Ras activation R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor R-HSA-442755 Activation of NMDA receptor and postsynaptic events R-HSA-442742 CREB phosphorylation through the activation of Ras R-HSA-442729 CREB phosphorylation through the activation of CaMKII R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission R-HSA-438064 Post NMDA receptor activation events R-HSA-112315 Transmission across Chemical Synapses R-HSA-5673001 RAF/MAP kinase cascade R-HSA-112316 Neuronal System R-HSA-5684996 MAPK1/MAPK3 signaling R-HSA-5683057 MAPK family signaling cascades R-HSA-162582 Signal Transduction
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
