SEPTs
Septins (SEPTs) are implicated in formation of the cytoskeleton, cell division and tumorigenesis.
Septins are a family of conserved proteins that form hetero-oligomeric complexes that assemble into filaments. The filaments can be organized into linear arrays, coils, rings and gauzes.
They serve as membrane-associated scaffolds and as barriers to demarcate local compartments, especially for the establishment of the septation site for cytokinesis. Studies in budding and fission yeast have revealed many of the protein-protein interactions that govern the formation of multi-septin complexes.
GTP binding and phosphorylation direct the polymerization of filaments that is required for septin-collar assembly in budding yeast, whereas a homolog of anillin instructs timely formation of the ring of septin filaments at the medial cortex in fission yeast.
Members
| SEPT1 | SEPT2 | SEPT3 | SEPT4 | SEPT5 | SEPT6 | SEPT7 | SEPT8 | SEPT9 |
Pathology
germline mutations in the gene septin 9 (SEPT9) in Hereditary neuralgic amyotrophy (HNA) linked to chromosome 17q25
- Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. HNA is the first monogenetic disease caused by mutations in a gene of the septin family.
SEPTs in fusion genes
- SEPT5/MLL (PNUTL1/MLL) by t(11;22)(q23;q11.2) (MLL at 11q23 and PNUTL1 (SPET5) at 22q11.2 in acute myeloid leukemia
- SEPT2/MLL by t(2;11)(q37;q23) in de novo and therapy-related acute myeloid leukemia (#17574968#)
References
van Binsbergen E, de Weerdt O, Buijs A. A new subtype of MLL-SEPT2 fusion transcript in therapy-related acute myeloid leukemia with t(2;11)(q37;q23): a case report and literature review. Cancer Genet Cytogenet. 2007 Jul 1;176(1):72-5. PMID: #17574968#
Kinoshita M. Diversity of septin scaffolds. Curr Opin Cell Biol. 2006 Feb;18(1):54-60. PMID: #16356703#
Versele M, Thorner J. Some assembly required: yeast septins provide the instruction manual. Trends Cell Biol. 2005 Aug;15(8):414-24. PMID: #16009555#
Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, Vriendt ED, Young P, Stogbauer F, Halfter H, Irobi J, Goossens D, Del-Favero J, Betz BG, Hor H, Kurlemann G, Bird TD, Airaksinen E, Mononen T, Serradell AP, Prats JM, Broeckhoven CV, Jonghe PD, Timmerman V, Ringelstein EB, Chance PF. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet. 2005 Oct;37(10):1044-1046. PMID: #16186812#
Hall PA, Russell SE. The pathobiology of the septin gene family. J Pathol. 2004 Nov;204(4):489-505. PMID: #15495264#