Nefl - neurofilament, light polypeptide Gene

Also Known as Nfl; NF-L; NF68; CMT2E

Species: Mus musculus

Gene Type: protein coding
Gene ID: 18039

Summary

Enables protein-macromolecule adaptor activity. A structural constituent of postsynaptic intermediate filament Cytoskeleton. Involved in intermediate filament bundle assembly and synapse maturation. Acts upstream of or within several processes, including Cytoskeleton organization; generation of neurons; and regulation of axon diameter. Located in several cellular components, including cholinergic synapse; intermediate filament cytoskeleton; and neuromuscular junction. Is active in Schaffer collateral - CA1 synapse and postsynaptic 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, Apr 2022]

Nefl Products (1)

mRNA Protein Name
NM_010910.2 NP_035040.1 neurofilament light polypeptide

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12403814 MGI
enables protein-macromolecule adaptor activity IDA
IDA: Inferred from direct assay
11034913 MGI
enables structural constituent of cytoskeleton IDA
IDA: Inferred from direct assay
11034913 MGI
enables structural constituent of postsynaptic intermediate filament cytoskeleton IDA
IDA: Inferred from direct assay
25869803 MGI
enables structural constituent of postsynaptic intermediate filament cytoskeleton IMP
IMP: Inferred from mutant phenotype
25869803 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of axonogenesis IMP
IMP: Inferred from mutant phenotype
7946341 MGI
acts upstream of or within intermediate filament bundle assembly IGI
IGI: Inferred from genetic interaction
10461886 MGI
involved in intermediate filament bundle assembly IGI
IGI: Inferred from genetic interaction
11034913 MGI
acts upstream of or within intermediate filament organization IMP
IMP: Inferred from mutant phenotype
2121744 MGI
acts upstream of or within locomotion IMP
IMP: Inferred from mutant phenotype
15132161 MGI
acts upstream of or within microtubule cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
11487626 MGI
acts upstream of motor neuron apoptotic process IMP
IMP: Inferred from mutant phenotype
7946341 MGI
acts upstream of or within negative regulation of motor neuron apoptotic process IMP
IMP: Inferred from mutant phenotype
7946341 MGI
acts upstream of or within neurofilament cytoskeleton organization IGI
IGI: Inferred from genetic interaction
10350642 MGI
acts upstream of or within neurofilament cytoskeleton organization IMP
IMP: Inferred from mutant phenotype
9398473 MGI
acts upstream of or within neuromuscular process controlling balance IMP
IMP: Inferred from mutant phenotype
15884021 MGI
acts upstream of or within neuron projection morphogenesis IMP
IMP: Inferred from mutant phenotype
10884316 MGI
acts upstream of or within peripheral nervous system axon regeneration IMP
IMP: Inferred from mutant phenotype
9398473 MGI
acts upstream of or within positive regulation of axonogenesis IMP
IMP: Inferred from mutant phenotype
7946341 MGI
involved in postsynaptic modulation of chemical synaptic transmission IDA
IDA: Inferred from direct assay
25869803 MGI
involved in postsynaptic modulation of chemical synaptic transmission IMP
IMP: Inferred from mutant phenotype
25869803 MGI
acts upstream of or within regulation of axon diameter IMP
IMP: Inferred from mutant phenotype
9398473 MGI
involved in regulation of synapse maturation IDA
IDA: Inferred from direct assay
25232125 MGI
involved in regulation of synapse maturation IMP
IMP: Inferred from mutant phenotype
25232125 MGI
Cellular Component GO Annotation Evidence References Source
is active in Schaffer collateral - CA1 synapse IDA
IDA: Inferred from direct assay
25869803 MGI
is active in Schaffer collateral - CA1 synapse IMP
IMP: Inferred from mutant phenotype
25869803 MGI
located in axon IDA
IDA: Inferred from direct assay
8110465 MGI
is active in cholinergic synapse IDA
IDA: Inferred from direct assay
25232125 MGI
is active in cholinergic synapse IMP
IMP: Inferred from mutant phenotype
25232125 MGI
located in cytoplasm IDA
IDA: Inferred from direct assay
11034913 MGI
located in intermediate filament IDA
IDA: Inferred from direct assay
2493000 MGI
located in neurofilament IDA
IDA: Inferred from direct assay
8821035 MGI
is active in neuromuscular junction IDA
IDA: Inferred from direct assay
25232125 MGI
is active in neuromuscular junction IMP
IMP: Inferred from mutant phenotype
25232125 MGI
located in neuron projection IDA
IDA: Inferred from direct assay
11834298 MGI
is active in postsynaptic intermediate filament cytoskeleton IDA
IDA: Inferred from direct assay
25869803 MGI
is active in presynaptic intermediate filament cytoskeleton IDA
IDA: Inferred from direct assay
25232125 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

neurofilament light polypeptide

  • 68 kDa neurofilament protein

  • neurofilament triplet L protein

Recombinant Nefl Proteins

Cat. No. Product Name Accession Purity
HY-P72305 Neurofilament light polypeptide/NEFL, Mouse (His) P08551 (S2-D543) ≥ 90%, as determined by reducing SDS-PAGE.

Nefl Antibodies

Cat. No. Product Name Application Reactivity
HY-P82216 Neurofilament light polypeptide Antibody (YA1961) WB, IHC-P, IP Mouse
HY-P82216A Neurofilament light polypeptide Antibody (YA1961)(PBS only) WB, IHC-P, IP Mouse

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09184 NEFL Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17540 Nefl Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS23998 Nefl Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Nefl NCBI NCBI:4747