InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NEFL

Summary

InnateDB Gene

IDBG-777808.1

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NEFL

Gene Name

neurofilament, light polypeptide

Synonyms

CMT1F; CMT2E; NF-L; NF68; NFL; PPP1R110

Species

Homo sapiens

Ensembl Gene

ENSG00000277586

Encoded Proteins

IDBP-813497

neurofilament, light polypeptide

IDBP-813500

neurofilament, light polypeptide

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 8:24950955-24957110

Strand

Reverse strand

Band

p21.2

Transcripts

ENST00000610854	ENSP00000482169
ENST00000615973
ENST00000619417	ENSP00000483690

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 38 experimentally validated interaction(s) in this database.

Experimentally validated
Total	38 [view]
Protein-Protein	38 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0005515	protein binding
GO:0008022	protein C-terminus binding
GO:0019904	protein domain specific binding
GO:0030674	protein binding, bridging
GO:0042802	identical protein binding
GO:0043274	phospholipase binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0007268	synaptic transmission
GO:0008089	anterograde axon cargo transport
GO:0008090	retrograde axon cargo transport
GO:0008219	cell death
GO:0009636	response to toxic substance
GO:0010033	response to organic substance
GO:0010243	response to organonitrogen compound
GO:0014012	peripheral nervous system axon regeneration
GO:0019896	axon transport of mitochondrion
GO:0031133	regulation of axon diameter
GO:0033693	neurofilament bundle assembly
GO:0040011	locomotion
GO:0043434	response to peptide hormone
GO:0043524	negative regulation of neuron apoptotic process
GO:0045109	intermediate filament organization
GO:0045110	intermediate filament bundle assembly
GO:0048812	neuron projection morphogenesis
GO:0050772	positive regulation of axonogenesis
GO:0050885	neuromuscular process controlling balance
GO:0051258	protein polymerization
GO:0051412	response to corticosterone
GO:0060052	neurofilament cytoskeleton organization

Cellular Component

GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0005882	intermediate filament
GO:0005883	neurofilament
GO:0030424	axon
GO:0030426	growth cone
GO:0033596	TSC1-TSC2 complex
GO:0043005	neuron projection