SEPT6

SEPTIN6
Identifiers
Aliases	SEPTIN6, SEP2, SEPT2, septin 6, SEPT6
External IDs	OMIM: 300683; MGI: 1888939; HomoloGene: 62617; GeneCards: SEPTIN6; OMA:SEPTIN6 - orthologs
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2QAG
Gene location (Human) Chr. X chromosome (human) Band Xq24 Start 119,615,724 bp End 119,693,370 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X A3.3 Start 36,174,979 bp End 36,255,447 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus lymph node granulocyte right adrenal cortex appendix left adrenal gland left adrenal cortex blood bone marrow cell spleen Top expressed in barrel cortex lumbar spinal ganglion facial motor nucleus habenula thymus medial geniculate nucleus medial dorsal nucleus substantia nigra motor neuron blood More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding protein binding GTPase activity molecular adaptor activity Cellular component cytoplasm axon terminus 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 viral process cell division spermatogenesis cell differentiation mitotic cytokinesis septin ring assembly cilium assembly 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: 36.17 – 36.26 Mb PubMed search
Wikidata
View/Edit Human View/Edit Mouse

Septin-6 is a protein that in humans is encoded by the SEPT6 gene.

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.

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.

Interactions

SEPT6 has been shown to interact with SEPT2.

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. S2CID 13174934.
• 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. S2CID 19525801.
• 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. S2CID 22757290.
• 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. S2CID 23783563.
• 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 (1–6): 195–7. doi:10.1023/A:1025149005902. PMID 14531065. S2CID 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 (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• 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. Bibcode:2007Natur.449..311S. 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.