SEPT6 explained

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]}

Further reading

• Kinoshita A, Noda M, Kinoshita M . Differential localization of septins in the mouse brain . The Journal of Comparative Neurology . 428 . 2 . 223–39 . December 2000 . 11064363 . 10.1002/1096-9861(20001211)428:2<223::AID-CNE3>3.0.CO;2-M . 13174934 .
• Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y . SEPTIN6, a human homologue to mouse Septin6, is fused to MLL in infant acute myeloid leukemia with complex chromosomal abnormalities involving 11q23 and Xq24 . Cancer Research . 62 . 2 . 333–7 . January 2002 . 11809673 .
• Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA . MLL-SEPTIN6 fusion recurs in novel translocation of chromosomes 3, X, and 11 in infant acute myelomonocytic leukaemia and in t(X;11) in infant acute myeloid leukaemia, and MLL genomic breakpoint in complex MLL-SEPTIN6 rearrangement is a DNA topoisomerase II cleavage site . Oncogene . 21 . 30 . 4706–14 . July 2002 . 12096348 . 10.1038/sj.onc.1205572 . 19525801 .
• Surka MC, Tsang CW, Trimble WS . 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 . 12388755 . 129964 . 10.1091/mbc.E02-01-0042 .
• Sheffield PJ, Oliver CJ, Kremer BE, Sheng S, Shao Z, Macara IG . Borg/septin interactions and the assembly of mammalian septin heterodimers, trimers, and filaments . The Journal of Biological Chemistry . 278 . 5 . 3483–8 . January 2003 . 12446710 . 10.1074/jbc.M209701200 . free .
• Vega IE, Hsu SC . The septin protein Nedd5 associates with both the exocyst complex and microtubules and disruption of its GTPase activity promotes aberrant neurite sprouting in PC12 cells . NeuroReport . 14 . 1 . 31–7 . January 2003 . 12544826 . 10.1097/00001756-200301200-00006. 22757290 .
• Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J . Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides . Nature Biotechnology . 21 . 5 . 566–9 . May 2003 . 12665801 . 10.1038/nbt810 . 23783563 .
• Koshelev YA, Kiselev SL, Georgiev GP . Interaction of the S100A4 (Mts1) protein with septins Sept2, Sept6, and Sept7 in vitro . Doklady Biochemistry and Biophysics . 391 . 195–7 . 2004 . 14531065 . 10.1023/A:1025149005902 . 26291196 .
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . October 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
• Kadkol SS, Bruno A, Oh S, Schmidt ML, Lindgren V . MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia . Cancer Genetics and Cytogenetics . 168 . 2 . 162–7 . July 2006 . 16843108 . 10.1016/j.cancergencyto.2006.02.020 .
• Low C, Macara IG . Structural analysis of septin 2, 6, and 7 complexes . The Journal of Biological Chemistry . 281 . 41 . 30697–706 . October 2006 . 16914550 . 10.1074/jbc.M605179200 . free .
• Kim CS, Seol SK, Song OK, Park JH, Jang SK . An RNA-binding protein, hnRNP A1, and a scaffold protein, septin 6, facilitate hepatitis C virus replication . Journal of Virology . 81 . 8 . 3852–65 . April 2007 . 17229681 . 1866118 . 10.1128/JVI.01311-06 .
• Sirajuddin M, Farkasovsky M, Hauer F, Kühlmann D, Macara IG, Weyand M, Stark H, Wittinghofer A . Structural insight into filament formation by mammalian septins . Nature . 449 . 7160 . 311–5 . September 2007 . 17637674 . 10.1038/nature06052 . 2007Natur.449..311S .
• Kremer BE, Adang LA, Macara IG . Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7 . Cell . 130 . 5 . 837–50 . September 2007 . 17803907 . 2085444 . 10.1016/j.cell.2007.06.053 .

Notes and References

1. Nagase T, Seki N, Tanaka A, Ishikawa K, Nomura N . 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 . 8590280 . 10.1093/dnares/2.4.167 . 10.1.1.333.6945 .
2. Xue J, Wang X, Malladi CS, Kinoshita M, Milburn PJ, Lengyel I, Rostas JA, Robinson PJ . 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 . 10744683 . 10.1074/jbc.275.14.10047 . free .
3. Web site: Entrez Gene: SEPT6 septin 6.
4. Huda Zoghbi . Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . October 2005 . 16189514 . 10.1038/nature04209 . 2005Natur.437.1173R . 4427026 .
5. Surka MC, Tsang CW, Trimble WS . 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 . 12388755 . 129964 . 10.1091/mbc.E02-01-0042 .