Nefh

Function

Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. NEFH has an important function in mature axons that is not subserved by the two smaller NF proteins. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form neuronal filamentous networks (PubMed:22723690).

Post-translational modifications

There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.

Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.

Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.

Sequence Similarities

Belongs to the intermediate filament family.

Tissue Specificity

Expressed in the sciatic nerve (at protein level).

Cellular localization

• Cytoplasm
• Cytoskeleton
• Cell projection
• Axon

Alternative names

Kiaa0845, Nfh, Nefh, Neurofilament heavy polypeptide, NF-H, 200 kDa neurofilament protein, Neurofilament triplet H protein

Database links

swissprot:P19246 entrezGene:380684 entrezGene:18026 entrezGene:18040 swissprot:Q8BQ20 swissprot:Q3HRJ6 swissprot:P08553