SEPT6

Septin 6
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 2QAG​
Identifiers
Symbols	SEPT6 ; SEP2; SEPT2
External IDs	OMIM: 300683 MGI: 1888939 HomoloGene: 62617 GeneCards: SEPT6 Gene
Gene ontology Molecular function • protein binding • GTP binding Cellular component • condensed chromosome kinetochore • spindle • synaptic vesicle • midbody • septin complex • cleavage furrow • axon terminus Biological process • cytokinesis • viral process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	23157	56526
Ensembl	ENSG00000125354	ENSMUSG00000050379
UniProt	Q14141	Q9R1T4
RefSeq (mRNA)	NM_015129	NM_001177323
RefSeq (protein)	NP_055944	NP_001170794
Location (UCSC)	Chr X: 119.62 – 119.69 Mb	Chr X: 36.91 – 36.99 Mb
PubMed search

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. Nagase T, Seki N, Tanaka A, Ishikawa K, Nomura N (Mar 1996). "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 Res 2 (4): 167–74, 199–210. doi:10.1093/dnares/2.4.167. PMID 8590280.
2. Xue J, Wang X, Malladi CS, Kinoshita M, Milburn PJ, Lengyel I, Rostas JA, Robinson PJ (May 2000). "Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase". J Biol Chem 275 (14): 10047–56. doi:10.1074/jbc.275.14.10047. PMID 10744683.
3. "Entrez Gene: SEPT6 septin 6".
4. 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
5. Surka MC, Tsang CW, Trimble WS (Oct 2002). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Mol. Biol. Cell 13 (10): 3532–45. doi:10.1091/mbc.E02-01-0042. PMC 129964. PMID 12388755.

Further reading

• Kinoshita A, Noda M, Kinoshita M (2000). "Differential localization of septins in the mouse brain.". J. Comp. Neurol. 428 (2): 223–39. doi:10.1002/1096-9861(20001211)428:2<223::AID-CNE3>3.0.CO;2-M. PMID 11064363.
• Ono R, Taki T, Taketani T, Kawaguchi H, Taniwaki M, Okamura T, Kawa K, Hanada R, Kobayashi M, Hayashi Y (2002). "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 Res. 62 (2): 333–7. PMID 11809673.
• Slater DJ, Hilgenfeld E, Rappaport EF, Shah N, Meek RG, Williams WR, Lovett BD, Osheroff N, Autar RS, Ried T, Felix CA (2002). "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. doi:10.1038/sj.onc.1205572. PMID 12096348.
• Surka MC, Tsang CW, Trimble WS (2003). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis.". Mol. Biol. Cell 13 (10): 3532–45. doi:10.1091/mbc.E02-01-0042. PMC 129964. PMID 12388755.
• Sheffield PJ, Oliver CJ, Kremer BE, Sheng S, Shao Z, Macara IG (2003). "Borg/septin interactions and the assembly of mammalian septin heterodimers, trimers, and filaments.". J. Biol. Chem. 278 (5): 3483–8. doi:10.1074/jbc.M209701200. PMID 12446710.
• Vega IE, Hsu SC (2003). "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. doi:10.1097/01.wnr.0000050304.92401.50. PMID 12544826.
• Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.
• Koshelev YA, Kiselev SL, Georgiev GP (2004). "Interaction of the S100A4 (Mts1) protein with septins Sept2, Sept6, and Sept7 in vitro.". Dokl. Biochem. Biophys. 391: 195–7. doi:10.1023/A:1025149005902. PMID 14531065.
• 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 (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
• Kadkol SS, Bruno A, Oh S, Schmidt ML, Lindgren V (2006). "MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia.". Cancer Genet. Cytogenet. 168 (2): 162–7. doi:10.1016/j.cancergencyto.2006.02.020. PMID 16843108.
• Low C, Macara IG (2006). "Structural analysis of septin 2, 6, and 7 complexes.". J. Biol. Chem. 281 (41): 30697–706. doi:10.1074/jbc.M605179200. PMID 16914550.
• Kim CS, Seol SK, Song OK, Park JH, Jang SK (2007). "An RNA-binding protein, hnRNP A1, and a scaffold protein, septin 6, facilitate hepatitis C virus replication.". J. Virol. 81 (8): 3852–65. doi:10.1128/JVI.01311-06. PMC 1866118. PMID 17229681.
• Sirajuddin M, Farkasovsky M, Hauer F, Kühlmann D, Macara IG, Weyand M, Stark H, Wittinghofer A (2007). "Structural insight into filament formation by mammalian septins.". Nature 449 (7160): 311–5. doi:10.1038/nature06052. PMID 17637674.
• Kremer BE, Adang LA, Macara IG (2007). "Septins regulate actin organization and cell-cycle arrest through nuclear accumulation of NCK mediated by SOCS7.". Cell 130 (5): 837–50. doi:10.1016/j.cell.2007.06.053. PMC 2085444. PMID 17803907.