SEPT5 explained

Septin-5 is a protein that in humans is encoded by the SEPT5 gene.^{[1] [2] [3]}

Function

This gene is a member of the septin gene family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Two transcripts of this gene, a major one of 2.2 kb and a minor one of 3.5 kb, have been observed. The 2.2 kb form results from the utilization of a non-consensus polyA signal (AACAAT). In the absence of polyadenylation from this imperfect site, the consensus polyA signal of the downstream neighboring gene (GP1BB; platelet glycoprotein Ib) is used, resulting in the 3.5 kb transcript. An alternatively spliced transcript variant with a different 5' end has also been identified, but its full-length nature has not been completely determined.

Interactions

SEPT5 has been shown to interact with:

• PARK2,^{[4] [5]} and
• SEPT8^{[6] [7]}

References

Further reading

• Yagi M, Edelhoff S, Disteche CM, Roth GJ . Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta . The Journal of Biological Chemistry . 269 . 26 . 17424–7 . July 1994 . 10.1016/S0021-9258(17)32456-0 . 8021244 . free .
• Zieger B, Hashimoto Y, Ware J . Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence . The Journal of Clinical Investigation . 99 . 3 . 520–5 . February 1997 . 9022087 . 507827 . 10.1172/JCI119188 .
• Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA . t(11;22)(q23;q11.2) In acute myeloid leukemia of infant twins fuses MLL with hCDCrel, a cell division cycle gene in the genomic region of deletion in DiGeorge and velocardiofacial syndromes . Proceedings of the National Academy of Sciences of the United States of America . 95 . 11 . 6413–8 . May 1998 . 9600980 . 27754 . 10.1073/pnas.95.11.6413 . 1998PNAS...95.6413M . free .
• Hsu SC, Hazuka CD, Roth R, Foletti DL, Heuser J, Scheller RH . Subunit composition, protein interactions, and structures of the mammalian brain sec6/8 complex and septin filaments . Neuron . 20 . 6 . 1111–22 . June 1998 . 9655500 . 10.1016/S0896-6273(00)80493-6 . free .
• Caltagarone J, Rhodes J, Honer WG, Bowser R . Localization of a novel septin protein, hCDCrel-1, in neurons of human brain . NeuroReport . 9 . 12 . 2907–12 . August 1998 . 9760144 . 10.1097/00001756-199808240-00042 . 10343782 .
• Beites CL, Xie H, Bowser R, Trimble WS . The septin CDCrel-1 binds syntaxin and inhibits exocytosis . Nature Neuroscience . 2 . 5 . 434–9 . May 1999 . 10321247 . 10.1038/8100 . 5863477 .
• Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM . Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1 . Proceedings of the National Academy of Sciences of the United States of America . 97 . 24 . 13354–9 . November 2000 . 11078524 . 27228 . 10.1073/pnas.240347797 . 2000PNAS...9713354Z . free .
• Larisch S, Yi Y, Lotan R, Kerner H, Eimerl S, Tony Parks W, Gottfried Y, Birkey Reffey S, de Caestecker MP, Danielpour D, Book-Melamed N, Timberg R, Duckett CS, Lechleider RJ, Steller H, Orly J, Kim SJ, Roberts AB . A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif . Nature Cell Biology . 2 . 12 . 915–21 . December 2000 . 11146656 . 10.1038/35046566 . 12321788 .
• Dent J, Kato K, Peng XR, Martinez C, Cattaneo M, Poujol C, Nurden P, Nurden A, Trimble WS, Ware J . A prototypic platelet septin and its participation in secretion . Proceedings of the National Academy of Sciences of the United States of America . 99 . 5 . 3064–9 . March 2002 . 11880646 . 122473 . 10.1073/pnas.052715199 . 2002PNAS...99.3064D . free .
• Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B . Human septin-septin interaction: CDCrel-1 partners with KIAA0202 . FEBS Letters . 519 . 1–3 . 169–72 . May 2002 . 12023038 . 10.1016/S0014-5793(02)02749-7 . 30822245 .
• Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B . Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202) . Gene . 312 . 313–20 . July 2003 . 12909369 . 10.1016/S0378-1119(03)00635-8 .
• Dong Z, Ferger B, Paterna JC, Vogel D, Furler S, Osinde M, Feldon J, Büeler H . Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1 . Proceedings of the National Academy of Sciences of the United States of America . 100 . 21 . 12438–43 . October 2003 . 14530399 . 218776 . 10.1073/pnas.2132992100 . 2003PNAS..10012438D . free .
• Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B . SEPT5_v2 is a parkin-binding protein . Brain Research. Molecular Brain Research . 117 . 2 . 179–89 . October 2003 . 14559152 . 10.1016/S0169-328X(03)00318-8 .
• Bläser S, Horn J, Würmell P, Bauer H, Strümpell S, Nurden P, Pagenstecher A, Busse A, Wunderle D, Hainmann I, Zieger B . The novel human platelet septin SEPT8 is an interaction partner of SEPT4 . Thrombosis and Haemostasis . 91 . 5 . 959–66 . May 2004 . 15116257 . 10.1160/TH03-09-0578 . 22853459 .
• Martínez C, Sanjuan MA, Dent JA, Karlsson L, Ware J . Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol . The Biochemical Journal . 382 . Pt 3 . 783–91 . September 2004 . 15214843 . 1133953 . 10.1042/BJ20040372 .
• Lehner B, Sanderson CM . A protein interaction framework for human mRNA degradation . Genome Research . 14 . 7 . 1315–23 . July 2004 . 15231747 . 442147 . 10.1101/gr.2122004 .

Notes and References

1. McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ . A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11 . Human Genetics . 101 . 1 . 6–12 . November 1997 . 9385360 . 10.1007/s004390050576 . 21377515 .
2. Yagi M, Zieger B, Roth GJ, Ware J . Structure and expression of the human septin gene HCDCREL-1 . Gene . 212 . 2 . 229–36 . June 1998 . 9611266 . 10.1016/S0378-1119(98)00146-2 .
3. Web site: Entrez Gene: SEPT5 septin 5.
4. Choi P, Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung KK, Kehoe K, D'Adamio L, Lee JM, Cochran E, Bowser R, Dawson TM, Wolozin B . Ted M. Dawson . Benjamin Wolozin . SEPT5_v2 is a parkin-binding protein . Brain Research. Molecular Brain Research . 117 . 2 . 179–89 . October 2003 . 14559152 . 10.1016/S0169-328X(03)00318-8 .
5. Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J . Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase . The Journal of Biological Chemistry . 283 . 51 . 35783–8 . December 2008 . 18845538 . 10.1074/jbc.M806860200 . free .
6. Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B . Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202) . Gene . 312 . 313–20 . July 2003 . 12909369 . 10.1016/S0378-1119(03)00635-8 .
7. Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B . Human septin-septin interaction: CDCrel-1 partners with KIAA0202 . FEBS Letters . 519 . 1–3 . 169–72 . May 2002 . 12023038 . 10.1016/S0014-5793(02)02749-7 . 30822245 .