Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Nefh. (This text reflects annotations as of Tuesday, May 21, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred from direct assay, that the gene product of Nefh
  • is located in the following cellular components:
    • axon ^[2]
    • mitochondrion ^[5]
    • neurofilament ^{[1, 3, 7]}
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Nefh
  • participates in the following biological processes:
    • intermediate filament cytoskeleton organization ^[8]
    • neurofilament cytoskeleton organization ^[6]
    • peripheral nervous system neuron axonogenesis ^[6]
• Researchers have inferred, based on genetic interactions, that the gene product of Nefh
  • participates in the following biological processes:
    • intermediate filament bundle assembly based on interactions with Nefl, Nefm ^[4]
    • microtubule cytoskeleton organization based on interactions with Nefm ^[4]
    • neurofilament cytoskeleton organization based on interactions with Nefl, Nefm ^[4]

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Summary text based on GO annotations supported by structural data

• Nefh encodes a protein or proteins that contain the following InterPro domains: Filament, HMW glutenin, Intermediate filament protein, conserved site, Protein of unknown function DUF1388, indicating that the gene product:
  • performs the following molecular functions:
    • nutrient reservoir activity

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Nefh indicates that it:
  • is located in the following cellular components:
    • intermediate filament

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References

1. Duchala CS et al. (2004) The toppler mouse: A novel mutant exhibiting loss of Purkinje cells. J Comp Neurol, 476:113-29. (PubMed:15248193)
2. Eyer J et al. (1994) Neurofilament-deficient axons and perikaryal aggregates in viable transgenic mice expressing a neurofilament-beta-galactosidase fusion protein. Neuron, 12:389-405. (PubMed:8110465)
3. Faussone-Pellegrini MS et al. (1999) The cytoskeleton of the myenteric neurons during murine embryonic life. Anat Embryol (Berl), 199:459-69. (PubMed:10221457)
4. Jacomy H et al. (1999) Disruption of type IV intermediate filament network in mice lacking the neurofilament medium and heavy subunits. J Neurochem, 73:972-84. (PubMed:10461886)
5. Mootha VK et al. (2003) Integrated analysis of protein composition, tissue diversity, and gene regulation in mouse mitochondria. Cell, 115:629-40. (PubMed:14651853)
6. Shen H et al. (2010) Distal to proximal development of peripheral nerves requires the expression of neurofilament heavy. Neuroscience, 170:16-21. (PubMed:20633607)
7. Wen HL et al. (2010) Stathmin, a microtubule-destabilizing protein, is dysregulated in spinal muscular atrophy. Hum Mol Genet, 19:1766-78. (PubMed:20176735)
8. Yuan A et al. (2003) Neurofilament transport in vivo minimally requires hetero-oligomer formation. J Neurosci, 23:9452-8. (PubMed:14561875)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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