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NAV3  -  neuron navigator 3

Homo sapiens

Synonyms: KIAA0938, Neuron navigator 3, POMFIL1, Pore membrane and/or filament-interacting-like protein 1, STEERIN3, ...
 
 
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Disease relevance of NAV3

  • In 40% of tested primary neuroblastomas expression of POMFIL1 is strongly reduced and after brain injury POMFIL1 protein expression is upregulated, indicating that POMFIL1 is involved in the process of neuron growth and regeneration, as well as in neural tumorigenesis [1].
  • Primary cutaneous T-cell lymphomas show a deletion or translocation affecting NAV3, the human UNC-53 homologue [2].
  • Thus, NAV3 may contribute to the growth, differentiation, and apoptosis of CTCL cells as well as to the skewing from Th1-type to Th2-type phenotype during disease progression [2].
  • With locus-specific FISH, NAV3 deletions were found in the skin lesions of four of eight (50%) patients with early mycosis fungoides (stages IA-IIA) and in the skin or lymph node of 11 of 13 (85%) patients with advanced mycosis fungoides or Sézary syndrome [2].
  • Indirect immunofluorescent staining of Ehrlich ascites tumor cells infected with two influenza A strains, WSA (HON1) and TUR (Hav1 Nav3), revealed early fluorescent spots which became detectable in the cytoplasm within 30 minutes of infection, before the nucleoprotein antigen appeared in the nucleus [3].
 

High impact information on NAV3

  • A missense mutation in the remaining NAV3 allele was found in one of six cases with a deletion or translocation [2].
  • NAV3, a novel putative haploinsufficient tumor suppressor gene, is disrupted in most cases of the commonest types of CTCL and may thus provide a new diagnostic tool [2].
  • NAV1, NAV2, and NAV3 expression is detected in adult heart, kidney, and brain, respectively [4].
  • All three pore membrane and/or filament interacting like (POMFIL) genes are differentially expressed in neuronal tumor cell lines [1].
  • The Nav6 strains exhibit a very low RNase protection after hybridization and do not cross-react serologically with Nav2 or Nav3 strains [5].

References

  1. Pore membrane and/or filament interacting like protein 1 (POMFIL1) is predominantly expressed in the nervous system and encodes different protein isoforms. Coy, J.F., Wiemann, S., Bechmann, I., Bächner, D., Nitsch, R., Kretz, O., Christiansen, H., Poustka, A. Gene (2002) [Pubmed]
  2. Primary cutaneous T-cell lymphomas show a deletion or translocation affecting NAV3, the human UNC-53 homologue. Karenko, L., Hahtola, S., Päivinen, S., Karhu, R., Syrjä, S., Kähkönen, M., Nedoszytko, B., Kytölä, S., Zhou, Y., Blazevic, V., Pesonen, M., Nevala, H., Nupponen, N., Sihto, H., Krebs, I., Poustka, A., Roszkiewicz, J., Saksela, K., Peterson, P., Visakorpi, T., Ranki, A. Cancer Res. (2005) [Pubmed]
  3. Early events in myxovirus replication: immunofluorescent spots. Haller, O., Bucher-Nurminen, A., Lindenmann, J. Arch. Virol. (1975) [Pubmed]
  4. Neuron navigator: a human gene family with homology to unc-53, a cell guidance gene from Caenorhabditis elegans. Maes, T., Barceló, A., Buesa, C. Genomics (2002) [Pubmed]
  5. Genetic relatedness of the neuramindase of influenza A strains Nav2, Nav3, and Nav6. Scholtissek, C., Rott, R., Lvov, D.K., Myasnikova, I.A. Arch. Virol. (1980) [Pubmed]
 
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