Human Gene NEFH (ENST00000310624.7) Description and Page Index
Description: Homo sapiens neurofilament heavy (NEFH), mRNA. (from RefSeq NM_021076) RefSeq Summary (NM_021076): Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has been associated with mutations in this gene. [provided by RefSeq, Oct 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AF203032.1, BC073969.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968540 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Gencode Transcript: ENST00000310624.7 Gencode Gene: ENSG00000100285.10 Transcript (Including UTRs) Position: hg38 chr22:29,480,218-29,491,390 Size: 11,173 Total Exon Count: 4 Strand: + Coding Region Position: hg38 chr22:29,480,263-29,490,703 Size: 10,441 Coding Exon Count: 4
ID:NFH_HUMAN DESCRIPTION: RecName: Full=Neurofilament heavy polypeptide; Short=NF-H; AltName: Full=200 kDa neurofilament protein; AltName: Full=Neurofilament triplet H protein; 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. PTM: 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. PTM: 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. PTM: Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization. POLYMORPHISM: The number of repeats is shown to vary between 29 and 30. DISEASE: Defects in NEFH are a cause of susceptibility to amyotrophic lateral sclerosis (ALS) [MIM:105400]. ALS is a neurodegenerative disorder affecting upper and lower motor neurons, and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. The etiology is likely to be multifactorial, involving both genetic and environmental factors. SIMILARITY: Belongs to the intermediate filament family. SEQUENCE CAUTION: Sequence=BAA74868.2; Type=Erroneous initiation; Sequence=BAG63896.1; Type=Erroneous initiation; WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org"; WEB RESOURCE: Name=Alsod; Note=ALS genetic mutations db; URL="http://alsod.iop.kcl.ac.uk/Als/";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF07142 - Repeat of unknown function (DUF1388) PF00038 - Intermediate filament protein
ModBase Predicted Comparative 3D Structure on P12036
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.