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Aliases for NEFL Gene

Aliases for NEFL Gene

  • Neurofilament, Light Polypeptide 2 3
  • Neurofilament, Light Polypeptide 68kDa 2 3
  • Neurofilament Triplet L Protein 3 4
  • CMT1F 3 6
  • CMT2E 3 6
  • NF-L 3 4
  • NF68 3 4
  • NFL 3 4
  • Protein Phosphatase 1, Regulatory Subunit 110 3
  • Light Molecular Weight Neurofilament Protein 3
  • Neurofilament Protein, Light Chain 3
  • Neurofilament Light Polypeptide 3
  • 68 KDa Neurofilament Protein 4
  • Neurofilament Subunit NF-L 3
  • Regulatory Subunit 110 2
  • Protein Phosphatase 1 2
  • PPP1R110 3

External Ids for NEFL Gene

Summaries for NEFL Gene

Entrez Gene Summary for NEFL Gene

  • Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]

GeneCards Summary for NEFL Gene

NEFL (Neurofilament, Light Polypeptide) is a Protein Coding gene. Diseases associated with NEFL include charcot-marie-tooth neuropathy type 2e/1f and severe early-onset axonal neuropathy due to nefl deficiency. Among its related pathways are Cytoskeletal Signaling and Transmission across Chemical Synapses. GO annotations related to this gene include identical protein binding and structural constituent of cytoskeleton.

UniProtKB/Swiss-Prot for NEFL Gene

  • Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber

Gene Wiki entry for NEFL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEFL Gene

Genomics for NEFL Gene

Genomic Location for NEFL Gene

Start:
24,950,955 bp from pter
End:
24,957,110 bp from pter
Size:
6,156 bases
Orientation:
Minus strand

Genomic View for NEFL Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NEFL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEFL Gene

Proteins for NEFL Gene

  • Protein details for NEFL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07196-NFL_HUMAN
    Recommended name:
    Neurofilament light polypeptide
    Protein Accession:
    P07196
    Secondary Accessions:
    • B9ZVN2
    • Q16154
    • Q8IU72

    Protein attributes for NEFL Gene

    Size:
    543 amino acids
    Molecular mass:
    61517 Da
    Quaternary structure:
    • Interacts with ARHGEF28. Interacts with TRIM2.
    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

neXtProt entry for NEFL Gene

Proteomics data for NEFL Gene at MOPED

Post-translational modifications for NEFL Gene

  • O-glycosylated.
  • Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.
  • Ubiquitinated in the presence of TRIM2 and UBE2D1.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys15, Lys271, and Lys370
  • Glycosylation at Thr21 and Ser27

Other Protein References for NEFL Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NEFL Gene

Domains for NEFL Gene

Gene Families for NEFL Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

Protein Domains for NEFL Gene

UniProtKB/Swiss-Prot:

NFL_HUMAN
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:
    • P07196
Family:
  • Belongs to the intermediate filament family.:
    • P07196
genes like me logo Genes that share domains with NEFL: view

Function for NEFL Gene

Molecular function for NEFL Gene

GENATLAS Biochemistry: neurofilament,light polypeptide (68kDa)
UniProtKB/Swiss-Prot Function: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber

Gene Ontology (GO) - Molecular Function for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005200 structural constituent of cytoskeleton IDA 12432080
GO:0005515 protein binding IPI 12837694
GO:0008022 protein C-terminus binding IPI 12226091
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with NEFL: view

Phenotypes for NEFL Gene

MGI mutant phenotypes for NEFL:
inferred from 2 alleles
GenomeRNAi human phenotypes for NEFL:
genes like me logo Genes that share phenotypes with NEFL: view

Animal Models for NEFL Gene

MGI Knock Outs for NEFL:

miRNA for NEFL Gene

miRTarBase miRNAs that target NEFL

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NEFL Gene

Localization for NEFL Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NEFL Gene COMPARTMENTS Subcellular localization image for NEFL gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament --
GO:0005883 neurofilament IDA 15857389
GO:0030424 axon IDA 14662745
genes like me logo Genes that share ontologies with NEFL: view

Pathways for NEFL Gene

genes like me logo Genes that share pathways with NEFL: view

Pathways by source for NEFL Gene

Gene Ontology (GO) - Biological Process for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0007268 synaptic transmission TAS --
GO:0008089 anterograde axon cargo transport IMP 15857389
GO:0008090 retrograde axon cargo transport IMP 15857389
GO:0008219 cell death --
genes like me logo Genes that share ontologies with NEFL: view

Compounds for NEFL Gene

(7) Novoseek inferred chemical compound relationships for NEFL Gene

Compound -log(P) Hits PubMed IDs
superoxide 14.7 2
retinoic acid 7.22 3
polyacrylamide 0 2
atp 0 1
glutamate 0 2
genes like me logo Genes that share compounds with NEFL: view

Transcripts for NEFL Gene

mRNA/cDNA for NEFL Gene

Unigene Clusters for NEFL Gene

Neurofilament, light polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NEFL Gene

No ASD Table

Relevant External Links for NEFL Gene

GeneLoc Exon Structure for
NEFL
ECgene alternative splicing isoforms for
NEFL

Expression for NEFL Gene

mRNA expression in normal human tissues for NEFL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NEFL Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (10.1), Brain - Cortex (8.9), Brain - Anterior cingulate cortex (BA24) (8.0), Brain - Substantia nigra (4.8), Brain - Hypothalamus (4.2), and Brain - Hippocampus (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for NEFL Gene

SOURCE GeneReport for Unigene cluster for NEFL Gene Hs.521461

genes like me logo Genes that share expressions with NEFL: view

Orthologs for NEFL Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEFL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEFL 36
  • 99.75 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia NEFL 36
  • 93.43 (n)
  • 98.51 (a)
dog
(Canis familiaris)
Mammalia NEFL 36
  • 94.63 (n)
  • 99.36 (a)
mouse
(Mus musculus)
Mammalia Nefl 36
  • 89.62 (n)
  • 97.46 (a)
Nefl 16
rat
(Rattus norvegicus)
Mammalia Nefl 36
  • 89.19 (n)
  • 97.67 (a)
chicken
(Gallus gallus)
Aves NEFL 36
  • 81.95 (n)
  • 84.86 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397822 36
tropical clawed frog
(Silurana tropicalis)
Amphibia nefl 36
  • 72.07 (n)
  • 74.3 (a)
zebrafish
(Danio rerio)
Actinopterygii neflb 36
  • 61.82 (n)
  • 61.89 (a)
sbcb126 36
Species with no ortholog for NEFL:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEFL Gene

ENSEMBL:
Gene Tree for NEFL (if available)
TreeFam:
Gene Tree for NEFL (if available)

Paralogs for NEFL Gene

genes like me logo Genes that share paralogs with NEFL: view

No data available for Paralogs for NEFL Gene

Variants for NEFL Gene

Sequence variations from dbSNP and Humsavar for NEFL Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs3761 -- 24,951,703(+) CAACA(A/G)AATTA utr-variant-3-prime
rs8077 -- 24,951,167(-) AAGAT(A/G)AGGCG utr-variant-3-prime
rs1059111 -- 24,952,575(-) CATGG(A/T)CCACG utr-variant-3-prime
rs1065078 -- 24,956,441(-) GTGCA(C/T)ATCTC reference, synonymous-codon
rs1065082 -- 24,956,072(-) CGCCT(A/G)GCGGC synonymous-codon, reference

Relevant External Links for NEFL Gene

HapMap Linkage Disequilibrium report
NEFL
Human Gene Mutation Database (HGMD)
NEFL
Locus Specific Mutation Databases (LSDB)
NEFL

No data available for Structural Variations from Database of Genomic Variants (DGV) for NEFL Gene

Disorders for NEFL Gene

(2) OMIM Diseases for NEFL Gene (162280)

UniProtKB/Swiss-Prot

NFL_HUMAN
  • Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies 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). {ECO:0000269 PubMed:12566280, ECO:0000269 PubMed:14733962, ECO:0000269 PubMed:15241803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:10841809, ECO:0000269 PubMed:11220745, ECO:0000269 PubMed:12481988, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NEFL Gene

(15) Novoseek inferred disease relationships for NEFL Gene

Disease -log(P) Hits PubMed IDs
charcot-marie-tooth disease 84.6 13
amyotrophic lateral sclerosis 55.1 1
neurodegeneration 49 1
supranuclear palsy progressive 43.3 1
neurodegenerative diseases 41.8 2

Relevant External Links for NEFL

GeneTests
NEFL
GeneReviews
NEFL
Genetic Association Database (GAD)
NEFL
Human Genome Epidemiology (HuGE) Navigator
NEFL
genes like me logo Genes that share disorders with NEFL: view

Publications for NEFL Gene

  1. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (PMID: 11220745) De Jonghe P. … Timmerman V. (Ann. Neurol. 2001) 3 4 23
  2. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (PMID: 10841809) Mersiyanova I.V. … Evgrafov O.V. (Am. J. Hum. Genet. 2000) 3 4 23
  3. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PMID: 15241803) Choi B.-O. … Chung K.W. (Hum. Mutat. 2004) 3 4 23
  4. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. (PMID: 12566280) Jordanova A. … Timmerman V. (Brain 2003) 3 4 23
  5. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. (PMID: 17620486) Miltenberger-Miltenyi G. … LAPscher W.N. (Arch. Neurol. 2007) 2 3 23

Products for NEFL Gene

Sources for NEFL Gene

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