• Gene id: 4747

Gene Summary

• Gene Symbol: NEFL   Gene   UCSC   Ensembl
• Aliases: CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
• Gene name: neurofilament light
• Alternate names: neurofilament light polypeptide, 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,
• Gene location: 8p21.2 (24956611: 24950954)     Exons: 4     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 611043

Protein Summary

• Protein general information: P07196  
  • Name: Neurofilament light polypeptide (NF L) (68 kDa neurofilament protein) (Neurofilament triplet L protein)
  • Length: 543  
  • Mass: 61517
• Sequence:

  MSSFSYEPYYSTSYKRRYVETPRVHISSVRSGYSTARSAYSSYSAPVSSSLSVRRSYSSSSGSLMPSLENLDLSQ
  VAAISNDLKSIRTQEKAQLQDLNDRFASFIERVHELEQQNKVLEAELLVLRQKHSEPSRFRALYEQEIRDLRLAA
  EDATNEKQALQGEREGLEETLRNLQARYEEEVLSREDAEGRLMEARKGADEAALARAELEKRIDSLMDEISFLKK
  VHEEEIAELQAQIQYAQISVEMDVTKPDLSAALKDIRAQYEKLAAKNMQNAEEWFKSRFTVLTESAAKNTDAVRA
  AKDEVSESRRLLKAKTLEIEACRGMNEALEKQLQELEDKQNADISAMQDTINKLENELRTTKSEMARYLKEYQDL
  LNVKMALDIEIAAYRKLLEGEETRLSFTSVGSITSGYSQSSQVFGRSAYGGLQTSSYLMSTRSFPSYYTSHVQEE
  QIEVEETIEAAKAEEAKDEPPSEGEAEEEEKDKEEAEEEEAAEEEEAAKEESEEAKEEEEGGEGEEGEETKEAEE
  EEKKVEGAGEEQAAKKKD

• Structural information:
  • Protein Domains: (90..40-)
    (/note="IF-rod)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01188"-)
  • Interpro: IPR018039  IPR039008  IPR042180  IPR006821  IPR027692  
  • Prosite: PS00226 PS51842
  • STRING: ENSP00000482169
• Other Databases: GeneCards:  NEFL  Malacards:  NEFL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005883	neurofilament	IEA	cellular component
GO:0061564	axon development	IEA	biological process
GO:0005882	intermediate filament	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000165	MAPK cascade	TAS	biological process
GO:2000310	regulation of NMDA receptor activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005883	neurofilament	IEA	cellular component
GO:0009636	response to toxic substance	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0021510	spinal cord development	IEA	biological process
GO:0021766	hippocampus development	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0033693	neurofilament bundle assembly	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0005883	neurofilament	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0031133	regulation of axon diameter	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0045109	intermediate filament organization	IEA	biological process
GO:0050772	positive regulation of axonogenesis	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0098981	cholinergic synapse	IEA	cellular component
GO:0099160	postsynaptic intermediate filament cytoskeleton	IEA	cellular component
GO:0099182	presynaptic intermediate filament cytoskeleton	IEA	cellular component
GO:0099184	structural constituent of postsynaptic intermediate filament cytoskeleton	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0021987	cerebral cortex development	IEA	biological process
GO:0030426	growth cone	IEA	cellular component
GO:0043274	phospholipase binding	IEA	molecular function
GO:0043434	response to peptide hormone	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0045105	intermediate filament polymerization or depolymerization	IEA	biological process
GO:0051258	protein polymerization	IEA	biological process
GO:0051412	response to corticosterone	IEA	biological process
GO:1903935	response to sodium arsenite	IEA	biological process
GO:1903937	response to acrylamide	IEA	biological process
GO:0000226	microtubule cytoskeleton organization	IEA	biological process
GO:0005200	structural constituent of cytoskeleton	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005882	intermediate filament	IEA	cellular component
GO:0014012	peripheral nervous system axon regeneration	IEA	biological process
GO:0030674	protein-macromolecule adaptor activity	IEA	molecular function
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0040011	locomotion	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0045110	intermediate filament bundle assembly	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0060052	neurofilament cytoskeleton organization	IEA	biological process
GO:0060074	synapse maturation	IEA	biological process
GO:0030674	protein-macromolecule adaptor activity	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:1904115	axon cytoplasm	IEA	cellular component
GO:0099185	postsynaptic intermediate filament cytoskeleton organization	IEA	biological process
GO:0030424	axon	IDA	cellular component
GO:0033693	neurofilament bundle assembly	IDA	biological process
GO:0005883	neurofilament	IDA	cellular component
GO:0005200	structural constituent of cytoskeleton	IDA	molecular function
GO:0033693	neurofilament bundle assembly	IMP	biological process
GO:0019896	axonal transport of mitochondrion	IMP	biological process
GO:0008089	anterograde axonal transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045109	intermediate filament organization	IMP	biological process
GO:0045109	intermediate filament organization	IMP	biological process
GO:0008090	retrograde axonal transport	IMP	biological process
GO:0008022	protein C-terminus binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05014	Amyotrophic lateral sclerosis

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	PMID:14733962
invasive ductal carcinoma	PMID:8814452
Amyotrophic lateral sclerosis	PMID:26273687
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray