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Gene Review

SEPT9  -  septin 9

Homo sapiens

Synonyms: AF17q25, KIAA0991, MLL septin-like fusion protein, MLL septin-like fusion protein MSF-A, MSF, ...
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Disease relevance of SEPT9


Psychiatry related information on SEPT9

  • Several types of technical persons are used to support the professional role of the pharmacist at Sint Radboud Hospital. Pharmaceutical research and international liaison are high priorities in the department of clinical pharmacy [5].

High impact information on SEPT9


Biological context of SEPT9

  • Our data indicate that the overexpression of SEPT9 in neoplasia is not simply a proliferation-associated phenomenon, despite its role in cytokinesis [7].
  • Since tumours are commonly associated with enhanced cell proliferation, we examined the possible correlation of Ki67 and SEPT9 expression in normal tissues and tumours [7].
  • Perturbed patterns of expression of the SEPT9 gene on chromosome 17q25.3 have been implicated in a variety of tumour types including both breast and ovarian neoplasia [8].
  • We propose a model in which overexpression of the SEPT9_v4 isoform in neoplasia is associated with perturbation of SEPT9 complexes, leading to phenotypes associated with neoplasia [9].
  • AF17q25 encoded at least three kinds of proteins [type I (568 a.a.), type II (594 a.a.), and type III (574 a.a.)] that contained two kinds of different amino acid sequences at the COOH terminus [10].

Anatomical context of SEPT9

  • To address the potential role of SEPT9 in tumorigenesis, we assessed the expression of SEPT9 in 7287 fresh frozen human tissue samples and 292 human cell lines by microarray analysis [7].
  • The microarray analysis indicates that there is consistent overexpression of SEPT9 in diverse human tumours including breast, CNS, endometrium, kidney, liver, lung, lymphoid, oesophagus, ovary, pancreas, skin, soft tissue and thyroid [7].
  • Using an antibody specific for MSF subfamily proteins, MSF-A was found to be expressed predominantly in mammary human mammary epithelial cells (HMEC) [11].
  • Unlike Nedd5, an MSF mutant deficient in GTPase activity forms filament indistinguishable from that of the wild type in COS cells [11].
  • In addition, transfections of various MSF isoforms reveal that MSF-A specifically localizes with microtubules and that this localization is disrupted by nocodazole treatment [12].

Associations of SEPT9 with chemical compounds

  • In addition, we used a sensitive RT-PCR strategy to define the expression of SEPT9 isoforms in archival formalin-fixed and paraffin-embedded normal human tissues [7].
  • Examples of tropical disease control in the humanitarian medical programmes of MSF and Merlin [13].

Other interactions of SEPT9


Analytical, diagnostic and therapeutic context of SEPT9

  • Microinjection of affinity-purified anti-MSF antibodies into synchronized cells, or depletion of MSF by small interfering RNAs, results in the accumulation of binucleated cells and in cells that have arrested during cytokinesis [12].
  • Western blot analysis indicated considerable variation in the relative amounts and isoform content of Sept9 [16].
  • METHODS: All patients who underwent subfascial endoscopy for venous ulceration between Jan. 1, 1994, and Mar. 1, 1995, at the Sint Franciscus Gasthuis in Rotterdam underwent duplex ultrasound scans of the lower leg before and 6 weeks after operation [17].
  • Materials and Methods: One-hunderd eighty-five consecutive patients underwent 203 CEAs with general anesthesia at the Sint Lucas Andreas Hospital. Inclusion criteria included adequate TCD monitoring during the operation and for at least 10 minutes in the recovery room [18].
  • Seventy-four patients with histologically confirmed malignant tumours of the nasopharynx were treated by the Departments of ENT and Radiotherapy of the Sint Radboud Academic Hospital, Nijmegen, The Netherlands. Selected prognostic factors were examined [19].


  1. MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). Osaka, M., Rowley, J.D., Zeleznik-Le, N.J. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  2. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Kuhlenbäumer, G., Hannibal, M.C., Nelis, E., Schirmacher, A., Verpoorten, N., Meuleman, J., Watts, G.D., De Vriendt, E., Young, P., Stögbauer, F., Halfter, H., Irobi, J., Goossens, D., Del-Favero, J., Betz, B.G., Hor, H., Kurlemann, G., Bird, T.D., Airaksinen, E., Mononen, T., Serradell, A.P., Prats, J.M., Van Broeckhoven, C., De Jonghe, P., Timmerman, V., Ringelstein, E.B., Chance, P.F. Nat. Genet. (2005) [Pubmed]
  3. Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors. Kalikin, L.M., Sims, H.L., Petty, E.M. Genomics (2000) [Pubmed]
  4. Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25). Yamamoto, K., Shibata, F., Yamaguchi, M., Miura, O. Int. J. Hematol. (2002) [Pubmed]
  5. Pharmaceutical services at Sint Radboud Hospital. McLeod, D.C., van der Kleijn, E. Drug intelligence & clinical pharmacy. (1985) [Pubmed]
  6. The Septin 9 (MSF) gene is amplified and overexpressed in mouse mammary gland adenocarcinomas and human breast cancer cell lines. Montagna, C., Lyu, M.S., Hunter, K., Lukes, L., Lowther, W., Reppert, T., Hissong, B., Weaver, Z., Ried, T. Cancer Res. (2003) [Pubmed]
  7. Multimodality expression profiling shows SEPT9 to be overexpressed in a wide range of human tumours. Scott, M., Hyland, P.L., McGregor, G., Hillan, K.J., Russell, S.E., Hall, P.A. Oncogene (2005) [Pubmed]
  8. Altered patterns of transcription of the septin gene, SEPT9, in ovarian tumorigenesis. Scott, M., McCluggage, W.G., Hillan, K.J., Hall, P.A., Russell, S.E. Int. J. Cancer (2006) [Pubmed]
  9. SEPT9_v4 expression induces morphological change, increased motility and disturbed polarity. Chacko, A.D., Hyland, P.L., McDade, S.S., Hamilton, P.W., Russell, S.H., Hall, P.A. J. Pathol. (2005) [Pubmed]
  10. AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25). Taki, T., Ohnishi, H., Shinohara, K., Sako, M., Bessho, F., Yanagisawa, M., Hayashi, Y. Cancer Res. (1999) [Pubmed]
  11. Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules. Nagata, K., Kawajiri, A., Matsui, S., Takagishi, M., Shiromizu, T., Saitoh, N., Izawa, I., Kiyono, T., Itoh, T.J., Hotani, H., Inagaki, M. J. Biol. Chem. (2003) [Pubmed]
  12. The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis. Surka, M.C., Tsang, C.W., Trimble, W.S. Mol. Biol. Cell (2002) [Pubmed]
  13. Examples of tropical disease control in the humanitarian medical programmes of MSF and Merlin. Balasegaram, M., Dejene, S., Tinnemann, P., Perkins, S., Davidson, R. Trans. R. Soc. Trop. Med. Hyg. (2006) [Pubmed]
  14. Altered expression of the septin gene, SEPT9, in ovarian neoplasia. Burrows, J.F., Chanduloy, S., McIlhatton, M.A., Nagar, H., Yeates, K., Donaghy, P., Price, J., Godwin, A.K., Johnston, P.G., Russell, S.E. J. Pathol. (2003) [Pubmed]
  15. Characterization of a 500 kb region on 17q25 and the exclusion of candidate genes as the familial Tylosis Oesophageal Cancer (TOC) locus. Risk, J.M., Evans, K.E., Jones, J., Langan, J.E., Rowbottom, L., McRonald, F.E., Mills, H.S., Ellis, A., Shaw, J.M., Leigh, I.M., Kelsell, D.P., Field, J.K. Oncogene (2002) [Pubmed]
  16. Properties of SEPT9 isoforms and the requirement for GTP binding. Robertson, C., Church, S.W., Nagar, H.A., Price, J., Hall, P.A., Russell, S.E. J. Pathol. (2004) [Pubmed]
  17. Efficacy of subfascial endoscopy in eradicating perforating veins of the lower leg and its relation with venous ulcer healing. Pierik, E.G., van Urk, H., Wittens, C.H. J. Vasc. Surg. (1997) [Pubmed]
  18. High embolic rate early after carotid endarterectomy is associated with early cerebrovascular complications, especially in women. Laman, D.M., Wieneke, G.H., van Duijn, H., van Huffelen, A.C. J. Vasc. Surg. (2002) [Pubmed]
  19. Malignant tumours of the nasopharynx: retrospective review of 74 cases. Levendag, P.C., Huygen, P.L., Kazem, I., van den Broek, P., Slooff, J.L. Clinical radiology. (1983) [Pubmed]
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