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NEFL neurofilament light chain [ Homo sapiens (human) ]

Gene ID: 4747, updated on 5-Aug-2022

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
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Genomic context

See NEFL in Genome Data Viewer
Location:
8p21.2
Exon count:
4
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (24950955..24956612, complement)
110 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 uncharacterized LOC112268023 Neighboring gene neurofilament medium chain Neighboring gene microRNA 6841 Neighboring gene uncharacterized LOC105379330 Neighboring gene Sharpr-MPRA regulatory region 9467

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

Homology

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 C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 protein polymerization IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of axon diameter 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
 
involved_in synapse maturation 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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
    P07196, Q8IU72
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)