SEPT6

Septin-6 is a protein that in humans is encoded by the SEPT6 gene.[5][6][7]

SEPTIN6
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2QAG
Identifiers
Aliases	SEPTIN6, SEP2, SEPT2, septin 6, SEPT6
External IDs	OMIM: 300683 MGI: 1888939 HomoloGene: 62617 GeneCards: SEPTIN6
Gene location (Human) Chr. X chromosome (human)[1] Band Xq24 Start 119,615,724 bp[1] End 119,693,370 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A3.3 Start 36,911,326 bp[2] End 36,991,794 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • GTP binding • GO:0001948 protein binding • GTPase activity • GO:0032947 molecular adaptor activity Cellular component • cytoplasm • axon terminus • condensed chromosome kinetochore • spindle • midbody • cleavage furrow • chromosome, centromeric region • cytoskeleton • synaptic vesicle • kinetochore • chromosome • septin ring • septin collar • septin complex • sperm annulus • cell projection • motile cilium • cilium • presynapse • microtubule cytoskeleton • septin filament array Biological process • cell cycle • GO:0022415 viral process • cell division • spermatogenesis • cell differentiation • mitotic cytokinesis • septin ring assembly • cilium morphogenesis • cytoskeleton-dependent cytokinesis Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	23157	56526
Ensembl	ENSG00000125354	ENSMUSG00000050379
UniProt	Q14141	Q9R1T4
RefSeq (mRNA)	NM_015129 NM_145799 NM_145800 NM_145802	NM_001177323 NM_001177324 NM_001253706 NM_019942 NM_001359140 NM_001359141 NM_001359142
RefSeq (protein)	NP_055944 NP_665798 NP_665799 NP_665801	NP_001170794 NP_001170795 NP_001240635 NP_064326 NP_001346069 NP_001346070 NP_001346071
Location (UCSC)	Chr X: 119.62 – 119.69 Mb	Chr X: 36.91 – 36.99 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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.[7]

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.[7]

Interactions

SEPT6 has been shown to interact with SEPT2.[8][9]

References

1. GRCh38: Ensembl release 89: ENSG00000125354 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000050379 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Seki N, Tanaka A, Ishikawa K, Nomura N (August 1995). "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. doi:10.1093/dnares/2.4.167. PMID 8590280.
6. Xue J, Wang X, Malladi CS, Kinoshita M, Milburn PJ, Lengyel I, Rostas JA, Robinson PJ (April 2000). "Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase". The Journal of Biological Chemistry. 275 (14): 10047–56. doi:10.1074/jbc.275.14.10047. PMID 10744683.
7. "Entrez Gene: SEPT6 septin 6".
8. 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 (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
9. Surka MC, Tsang CW, Trimble WS (October 2002). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Molecular Biology of the Cell. 13 (10): 3532–45. doi:10.1091/mbc.E02-01-0042. PMC 129964. PMID 12388755.

Further reading

• Kinoshita A, Noda M, Kinoshita M (December 2000). "Differential localization of septins in the mouse brain". The Journal of Comparative Neurology. 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 (January 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 Research. 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 (July 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 (October 2002). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Molecular Biology of the 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 (January 2003). "Borg/septin interactions and the assembly of mammalian septin heterodimers, trimers, and filaments". The Journal of Biological Chemistry. 278 (5): 3483–8. doi:10.1074/jbc.M209701200. PMID 12446710.
• Vega IE, Hsu SC (January 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:10.1097/00001756-200301200-00006. PMID 12544826.
• Gevaert K, Goethals M, Martens L, Van Damme J, Staes A, Thomas GR, Vandekerckhove J (May 2003). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nature Biotechnology. 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". Doklady Biochemistry and Biophysics. 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 (October 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 (July 2006). "MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia". Cancer Genetics and Cytogenetics. 168 (2): 162–7. doi:10.1016/j.cancergencyto.2006.02.020. PMID 16843108.
• Low C, Macara IG (October 2006). "Structural analysis of septin 2, 6, and 7 complexes". The Journal of Biological Chemistry. 281 (41): 30697–706. doi:10.1074/jbc.M605179200. PMID 16914550.
• Kim CS, Seol SK, Song OK, Park JH, Jang SK (April 2007). "An RNA-binding protein, hnRNP A1, and a scaffold protein, septin 6, facilitate hepatitis C virus replication". Journal of Virology. 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 (September 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 (September 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.