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Aliases for NEFL Gene

Aliases for NEFL Gene

  • Neurofilament, Light Polypeptide 2 3 5
  • Neurofilament, Light Polypeptide 68kDa 2 3
  • Neurofilament Triplet L Protein 3 4
  • 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
  • 68 KDa Neurofilament Protein 4
  • Neurofilament Subunit NF-L 3
  • Regulatory Subunit 110 2
  • Protein Phosphatase 1 2
  • PPP1R110 3
  • CMT1F 3
  • CMT2E 3

External Ids for NEFL Gene

Previous GeneCards Identifiers for NEFL Gene

  • GC08M024543
  • GC08M025163
  • GC08M024629
  • GC08M024832
  • GC08M024866
  • GC08M023353
  • GC08M024808

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 disease, type 2e and charcot-marie-tooth disease, type 1f. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoskeletal Signaling. GO annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is KRT82.

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

Regulatory Elements for NEFL Gene

Enhancers for NEFL Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NEFL on UCSC Golden Path with GeneCards custom track

Promoters for NEFL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NEFL on UCSC Golden Path with GeneCards custom track

Genomic Location for NEFL Gene

Chromosome:
8
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

Genes around NEFL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEFL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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.
  • Ubiquitination at Lys 15, Lys 271, and Lys 370
  • Glycosylation at Thr 21 and Ser 27
  • Modification sites at PhosphoSitePlus

Other Protein References for NEFL Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NEFL (NFL)

No data available for DME Specific Peptides for NEFL Gene

Domains & Families for NEFL Gene

Protein Domains for NEFL Gene

Suggested Antigen Peptide Sequences for NEFL Gene

Graphical View of Domain Structure for InterPro Entry

P07196

UniProtKB/Swiss-Prot:

NFL_HUMAN :
  • 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.
  • Belongs to the intermediate filament family.
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.
Family:
  • Belongs to the intermediate filament family.
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:0008022 protein C-terminus binding IPI 12226091
genes like me logo Genes that share ontologies with NEFL: view
genes like me logo Genes that share phenotypes with NEFL: view

Human Phenotype Ontology for NEFL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEFL Gene

MGI Knock Outs for NEFL:

Animal Model Products

miRNA for NEFL Gene

miRTarBase miRNAs that target NEFL

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

Localization for NEFL Gene

Gene Ontology (GO) - Cellular Components for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030424 axon IEA,IDA 14662745
genes like me logo Genes that share ontologies with NEFL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for NEFL Gene

Pathways & Interactions for NEFL Gene

SuperPathways for NEFL Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 Post NMDA receptor activation events
3 Transmission across Chemical Synapses
4 Amyotrophic lateral sclerosis (ALS)
5 Developmental Biology
genes like me logo Genes that share pathways with NEFL: view

Gene Ontology (GO) - Biological Process for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007268 synaptic transmission TAS --
GO:0007411 axon guidance TAS --
GO:0008089 anterograde axonal transport IMP 15857389
genes like me logo Genes that share ontologies with NEFL: view

No data available for SIGNOR curated interactions for NEFL Gene

Drugs & Compounds for NEFL Gene

(2) Drugs for NEFL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for NEFL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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) (x10.1), Brain - Cortex (x8.9), Brain - Anterior cingulate cortex (BA24) (x8.0), Brain - Substantia nigra (x4.8), Brain - Hypothalamus (x4.2), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for NEFL Gene

This gene is overexpressed in Spinal cord (47.5), Frontal cortex (11.7), and Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with NEFL: view

Protein tissue co-expression partners for NEFL Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NEFL Gene

Orthologs for NEFL Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEFL Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NEFL 35
  • 93.43 (n)
  • 98.51 (a)
dog
(Canis familiaris)
Mammalia NEFL 35
  • 94.63 (n)
  • 99.36 (a)
mouse
(Mus musculus)
Mammalia Nefl 35
  • 89.62 (n)
  • 97.46 (a)
Nefl 16
chimpanzee
(Pan troglodytes)
Mammalia NEFL 35
  • 99.75 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Nefl 35
  • 89.19 (n)
  • 97.67 (a)
chicken
(Gallus gallus)
Aves NEFL 35
  • 81.95 (n)
  • 84.86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nefl 35
  • 72.07 (n)
  • 74.3 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397822 35
zebrafish
(Danio rerio)
Actinopterygii neflb 35
  • 61.82 (n)
  • 61.89 (a)
sbcb126 35
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

Paralogs for NEFL Gene

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

Variants for NEFL Gene

Sequence variations from dbSNP and Humsavar for NEFL Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
VAR_009703 Charcot-Marie-Tooth disease 2E (CMT2E)
rs57848467 - 24,956,497(-) GCTAC(A/G)AGCCG reference, missense
VAR_016018 Charcot-Marie-Tooth disease 1F (CMT1F)
VAR_016019 Charcot-Marie-Tooth disease 1F (CMT1F)
VAR_016020 Charcot-Marie-Tooth disease 1F (CMT1F), Charcot-Marie-Tooth disease 2E (CMT2E)

Relevant External Links for NEFL Gene

HapMap Linkage Disequilibrium report
NEFL
Human Gene Mutation Database (HGMD)
NEFL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for NEFL Gene

Disorders for NEFL Gene

MalaCards: The human disease database

(15) MalaCards diseases for NEFL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, axonal, type 2s
charcot-marie-tooth disease, type 1f
  • charcot-marie-tooth disease type 1f
severe early-onset axonal neuropathy due to nefl deficiency
  • severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
charcot-marie-tooth disease, axonal, type 2s
  • ar-cmt2
charcot-marie-tooth disease, type 1c
  • charcot-marie-tooth disease type 1c
- elite association - COSMIC cancer census association via MalaCards
Search NEFL in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for NEFL

Genetic Association Database (GAD)
NEFL
Human Genome Epidemiology (HuGE) Navigator
NEFL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEFL
genes like me logo Genes that share disorders with NEFL: view

No data available for Genatlas for NEFL Gene

Publications for NEFL Gene

  1. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot- Marie-Tooth neuropathy. (PMID: 14733962) Zuechner S. … Schroeder J.M. (Neuromuscul. Disord. 2004) 3 4 48 67
  2. 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
  3. The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy. (PMID: 19286384) Bhagavati S. … Xu W. (J Clin Neurosci 2009) 3 23
  4. Auditory nerve is affected in one of two different point mutations of the neurofilament light gene. (PMID: 18023247) Butinar D. … Christodoulou K. (Clin Neurophysiol 2008) 3 23
  5. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. (PMID: 17052987) Fabrizi G.M. … Rizzuto N. (Brain 2007) 3 23

Products for NEFL Gene

Sources for NEFL Gene

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