Human Gene NEFM (ENST00000221166.10) Description and Page Index
Description: Homo sapiens neurofilament medium (NEFM), transcript variant 1, mRNA. (from RefSeq NM_005382) RefSeq Summary (NM_005382): 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 medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]. Gencode Transcript: ENST00000221166.10 Gencode Gene: ENSG00000104722.14 Transcript (Including UTRs) Position: hg38 chr8:24,913,761-24,919,093 Size: 5,333 Total Exon Count: 3 Strand: + Coding Region Position: hg38 chr8:24,913,794-24,918,606 Size: 4,813 Coding Exon Count: 3
ID:NFM_HUMAN DESCRIPTION: RecName: Full=Neurofilament medium polypeptide; Short=NF-M; AltName: Full=160 kDa neurofilament protein; AltName: Full=Neurofilament 3; AltName: Full=Neurofilament triplet M protein; FUNCTION: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. INTERACTION: P06400:RB1; NbExp=2; IntAct=EBI-1105035, EBI-491274; Q15796:SMAD2; NbExp=3; IntAct=EBI-1105035, EBI-1040141; PTM: There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM 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. SIMILARITY: Belongs to the intermediate filament family. WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
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: PF00038 - Intermediate filament protein PF04732 - Intermediate filament head (DNA binding) region
ModBase Predicted Comparative 3D Structure on P07197
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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.