Biology:SEPT6

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Short description: Protein-coding gene in the species Homo sapiens


A representation of the 3D structure of the protein myoglobin showing turquoise α-helices.
Generic protein structure example

Septin-6 is a protein that in humans is encoded by the SEPT6 gene.[1][2][3]

Function

This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined.[3]

Clinical significance

One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins.[3]

Interactions

SEPT6 has been shown to interact with SEPT2.[4][5]

References

  1. "Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research 2 (4): 167–74, 199–210. August 1995. doi:10.1093/dnares/2.4.167. PMID 8590280. 
  2. "Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase". The Journal of Biological Chemistry 275 (14): 10047–56. April 2000. doi:10.1074/jbc.275.14.10047. PMID 10744683. 
  3. 3.0 3.1 3.2 "Entrez Gene: SEPT6 septin 6". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23157. 
  4. "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. October 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode2005Natur.437.1173R. 
  5. "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Molecular Biology of the Cell 13 (10): 3532–45. October 2002. doi:10.1091/mbc.E02-01-0042. PMID 12388755. 

Further reading