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Nefl neurofilament, light polypeptide [ Mus musculus (house mouse) ]

Gene ID: 18039, updated on 27-Nov-2024

Summary

Official Symbol
Neflprovided by MGI
Official Full Name
neurofilament, light polypeptideprovided by MGI
Primary source
MGI:MGI:97313
See related
Ensembl:ENSMUSG00000022055 AllianceGenome:MGI:97313
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Nfl; NF-L; NF68; CMT2E
Summary
Enables protein-macromolecule adaptor activity. A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in intermediate filament bundle assembly; postsynaptic modulation of chemical synaptic transmission; and regulation of synapse maturation. Acts upstream of or within several processes, including cytoskeleton organization; neuron projection development; and regulation of axonogenesis. Located in axon and neurofilament. Is active in several cellular components, including Schaffer collateral - CA1 synapse; cholinergic synapse; and intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; limb; and peripheral nervous system ganglion. Used to study Charcot-Marie-Tooth disease type 2E. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament light chain). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in cerebellum adult (RPKM 173.8), cortex adult (RPKM 78.3) and 5 other tissues See more
Orthologs
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Genomic context

See Nefl in Genome Data Viewer
Location:
14 D1; 14 35.46 cM
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (68321312..68326544)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (68083863..68089095)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_37032 Neighboring gene predicted gene, 41189 Neighboring gene predicted gene, 52127 Neighboring gene predicted gene, 31107 Neighboring gene STARR-seq mESC enhancer starr_37037 Neighboring gene STARR-seq mESC enhancer starr_37039 Neighboring gene solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 3 pseudogene Neighboring gene RIKEN cDNA A230070E04 gene Neighboring gene neurofilament, medium polypeptide

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (4)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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

General protein information

Preferred Names
neurofilament light polypeptide
Names
68 kDa neurofilament protein
neurofilament triplet L protein

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_010910.2NP_035040.1  neurofilament light polypeptide

    See identical proteins and their annotated locations for NP_035040.1

    Status: VALIDATED

    Source sequence(s)
    AC154687, AK149219, BC029203, BE952212
    Consensus CDS
    CCDS27232.1
    UniProtKB/Swiss-Prot
    P08551, Q8K0Z0
    UniProtKB/TrEMBL
    Q05DD2
    Related
    ENSMUSP00000022639.8, ENSMUST00000022639.8
    Conserved Domains (2) summary
    pfam00038
    Location:89400
    Filament; Intermediate filament protein
    pfam04732
    Location:988
    Filament_head; Intermediate filament head (DNA binding) region

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    68321312..68326544
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)