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    NEFL neurofilament light chain [ Homo sapiens (human) ]

    Gene ID: 4747, updated on 17-Jun-2024

    Summary

    Official Symbol
    NEFLprovided by HGNC
    Official Full Name
    neurofilament light chainprovided by HGNC
    Primary source
    HGNC:HGNC:7739
    See related
    Ensembl:ENSG00000277586 MIM:162280; AllianceGenome:HGNC:7739
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 94.3) and adrenal (RPKM 9.8) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See NEFL in Genome Data Viewer
    Location:
    8p21.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (24950955..24956612, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (25226443..25232101, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (24808468..24814126, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:24770918-24771691 Neighboring gene uncharacterized LOC112268023 Neighboring gene neurofilament medium chain Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:24811677-24812876 Neighboring gene microRNA 6841 Neighboring gene uncharacterized LOC105379330 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:24858047-24858866 Neighboring gene Sharpr-MPRA regulatory region 9467 Neighboring gene uncharacterized LOC124901911

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth disease type 1F
    MedGen: C1843164 OMIM: 607734 GeneReviews: Not available
    Compare labs
    Charcot-Marie-Tooth disease type 2E
    MedGen: C1843225 OMIM: 607684 GeneReviews: Not available
    Compare labs
    Charcot-Marie-Tooth disease, dominant intermediate G
    MedGen: C4693509 OMIM: 617882 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2018-09-17)

    ClinGen Genome Curation Page
    Haploinsufficency

    No evidence available (Last evaluated 2018-09-17)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ53642

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phospholipase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-macromolecule adaptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables structural constituent of cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables structural constituent of postsynaptic intermediate filament cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in anterograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axonal transport of mitochondrion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hippocampus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermediate filament organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in intermediate filament polymerization or depolymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in locomotion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of motor neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neurofilament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neurofilament bundle assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neurofilament bundle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neurofilament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system axon regeneration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of axonogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic intermediate filament cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in postsynaptic modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of axon diameter IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of synapse maturation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to acrylamide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to corticosterone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to sodium arsenite IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to toxic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in retrograde axonal transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in spinal cord development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cholinergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neurofilament IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuromuscular junction IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in postsynaptic intermediate filament cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in presynaptic intermediate filament cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    neurofilament light polypeptide
    Names
    light molecular weight neurofilament protein
    neurofilament protein, light chain
    neurofilament subunit NF-L
    neurofilament triplet L protein
    neurofilament, light polypeptide 68kDa
    protein phosphatase 1, regulatory subunit 110

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008492.1 RefSeqGene

      Range
      4749..10663
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_259

    mRNA and Protein(s)

    1. NM_006158.5NP_006149.2  neurofilament light polypeptide

      See identical proteins and their annotated locations for NP_006149.2

      Status: REVIEWED

      Source sequence(s)
      AK225975, BC037803, BC039237, BQ720008
      Consensus CDS
      CCDS75712.1
      UniProtKB/Swiss-Prot
      B9ZVN2, P07196, Q16154, Q8IU72
      UniProtKB/TrEMBL
      B3KQI5
      Related
      ENSP00000482169.2, ENST00000610854.2
      Conserved Domains (2) summary
      pfam00038
      Location:89399
      Filament; Intermediate filament protein
      pfam04732
      Location:988
      Filament_head; Intermediate filament head (DNA binding) region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      24950955..24956612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      25226443..25232101 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)