Nefl - neurofilament, light polypeptide Gene

Mus musculus

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

Gene ID: 18039 | Gene type: protein coding

About Nefl

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	Reference	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	Reference	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	Reference	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)	≥95%

Nefl Antibodies

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09184	NEFL Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Nefl	NCBI	NCBI:4747

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