InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: NEFH

Summary

InnateDB Protein

IDBP-3624.5

Last Modified

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

Gene Symbol

NEFH

Protein Name

neurofilament, heavy polypeptide

Synonyms

NFH;

Species

Homo sapiens

Ensembl Protein

ENSP00000311997

InnateDB Gene

IDBG-3622 (NEFH)

Protein Structure

UniProt Annotation

Function

Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the two smaller NF proteins.

Subcellular Localization

Disease Associations

Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5- 10% of the cases. {ECO:0000269PubMed:7849698}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton
GO:0008017	microtubule binding
GO:0019894	kinesin binding
GO:0019901	protein kinase binding
GO:0030674	protein binding, bridging
GO:0045502	dynein binding

Biological Process

GO:0000226	microtubule cytoskeleton organization
GO:0007409	axonogenesis
GO:0008219	cell death
GO:0030031	cell projection assembly
GO:0033693	neurofilament bundle assembly
GO:0045104	intermediate filament cytoskeleton organization
GO:0045110	intermediate filament bundle assembly
GO:0048936	peripheral nervous system neuron axonogenesis
GO:0060052	neurofilament cytoskeleton organization
GO:0061564	axon development
GO:1902513	regulation of organelle transport along microtubule