SEPT5

{{cs1 config|name-list-style=vanc}} {{Short description|Protein-coding gene in the species Homo sapiens}} {{Infobox_gene}} '''Septin-5''' is a [[protein]] that in humans is encoded by the ''SEPT5'' [[gene]].<ref name="pmid9385360">{{cite journal | vauthors = McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ | title = A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11 | journal = Human Genetics | volume = 101 | issue = 1 | pages = 6–12 | date = November 1997 | pmid = 9385360 | doi = 10.1007/s004390050576 | s2cid = 21377515 }}</ref><ref name="pmid9611266">{{cite journal | vauthors = Yagi M, Zieger B, Roth GJ, Ware J | title = Structure and expression of the human septin gene HCDCREL-1 | journal = Gene | volume = 212 | issue = 2 | pages = 229–36 | date = June 1998 | pmid = 9611266 | doi = 10.1016/S0378-1119(98)00146-2 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SEPT5 septin 5| url = https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=5413}}</ref>

== 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 [[Cytoskeleton|cytoskeletal]] organization. Disruption of septin function disturbs [[cytokinesis]] and results in large [[multinucleate]] or [[Polyploidy|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.<ref name="entrez" />

== Interactions ==

SEPT5 has been shown to [[Protein-protein interaction|interact]] with: * [[Parkin (ligase)|PARK2]],<ref name = pmid14559152>{{cite journal | vauthors = 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 | author14-link=Ted M. Dawson | author15-link=Benjamin Wolozin | title = SEPT5_v2 is a parkin-binding protein | journal = Brain Research. Molecular Brain Research | volume = 117 | issue = 2 | pages = 179–89 | date = October 2003 | pmid = 14559152 | doi = 10.1016/S0169-328X(03)00318-8 }}</ref><ref name = pmid18845538>{{cite journal | vauthors = Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J | title = Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase | journal = The Journal of Biological Chemistry | volume = 283 | issue = 51 | pages = 35783–8 | date = December 2008 | pmid = 18845538 | doi = 10.1074/jbc.M806860200 | doi-access = free }}</ref> and * [[SEPT8]]<ref name = pmid12909369>{{cite journal | vauthors = Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B | title = Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202) | journal = Gene | volume = 312 | pages = 313–20 | date = July 2003 | pmid = 12909369 | doi = 10.1016/S0378-1119(03)00635-8 }}</ref><ref name = pmid12023038>{{cite journal | vauthors = Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B | title = Human septin-septin interaction: CDCrel-1 partners with KIAA0202 | journal = FEBS Letters | volume = 519 | issue = 1–3 | pages = 169–72 | date = May 2002 | pmid = 12023038 | doi = 10.1016/S0014-5793(02)02749-7 | s2cid = 30822245 | doi-access = }}</ref>

== References == {{reflist}} {{Clear}}

== Further reading == {{refbegin | 2}} * {{cite journal | vauthors = Yagi M, Edelhoff S, Disteche CM, Roth GJ | title = Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta | journal = The Journal of Biological Chemistry | volume = 269 | issue = 26 | pages = 17424–7 | date = July 1994 | doi = 10.1016/S0021-9258(17)32456-0 | pmid = 8021244 | doi-access = free }} * {{cite journal | vauthors = Zieger B, Hashimoto Y, Ware J | title = Alternative expression of platelet glycoprotein Ib(beta) mRNA from an adjacent 5' gene with an imperfect polyadenylation signal sequence | journal = The Journal of Clinical Investigation | volume = 99 | issue = 3 | pages = 520–5 | date = February 1997 | pmid = 9022087 | pmc = 507827 | doi = 10.1172/JCI119188 }} * {{cite journal | vauthors = Megonigal MD, Rappaport EF, Jones DH, Williams TM, Lovett BD, Kelly KM, Lerou PH, Moulton T, Budarf ML, Felix CA | title = 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 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 95 | issue = 11 | pages = 6413–8 | date = May 1998 | pmid = 9600980 | pmc = 27754 | doi = 10.1073/pnas.95.11.6413 | bibcode = 1998PNAS...95.6413M | doi-access = free }} * {{cite journal | vauthors = Hsu SC, Hazuka CD, Roth R, Foletti DL, Heuser J, Scheller RH | title = Subunit composition, protein interactions, and structures of the mammalian brain sec6/8 complex and septin filaments | journal = Neuron | volume = 20 | issue = 6 | pages = 1111–22 | date = June 1998 | pmid = 9655500 | doi = 10.1016/S0896-6273(00)80493-6 | doi-access = free }} * {{cite journal | vauthors = Caltagarone J, Rhodes J, Honer WG, Bowser R | title = Localization of a novel septin protein, hCDCrel-1, in neurons of human brain | journal = NeuroReport | volume = 9 | issue = 12 | pages = 2907–12 | date = August 1998 | pmid = 9760144 | doi = 10.1097/00001756-199808240-00042 | s2cid = 10343782 }} * {{cite journal | vauthors = Beites CL, Xie H, Bowser R, Trimble WS | title = The septin CDCrel-1 binds syntaxin and inhibits exocytosis | journal = Nature Neuroscience | volume = 2 | issue = 5 | pages = 434–9 | date = May 1999 | pmid = 10321247 | doi = 10.1038/8100 | s2cid = 5863477 }} * {{cite journal | vauthors = Zhang Y, Gao J, Chung KK, Huang H, Dawson VL, Dawson TM | title = Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 24 | pages = 13354–9 | date = November 2000 | pmid = 11078524 | pmc = 27228 | doi = 10.1073/pnas.240347797 | bibcode = 2000PNAS...9713354Z | doi-access = free }} * {{cite journal | vauthors = 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 | title = A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif | journal = Nature Cell Biology | volume = 2 | issue = 12 | pages = 915–21 | date = December 2000 | pmid = 11146656 | doi = 10.1038/35046566 | s2cid = 12321788 }} * {{cite journal | vauthors = Dent J, Kato K, Peng XR, Martinez C, Cattaneo M, Poujol C, Nurden P, Nurden A, Trimble WS, Ware J | title = A prototypic platelet septin and its participation in secretion | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 99 | issue = 5 | pages = 3064–9 | date = March 2002 | pmid = 11880646 | pmc = 122473 | doi = 10.1073/pnas.052715199 | bibcode = 2002PNAS...99.3064D | doi-access = free }} * {{cite journal | vauthors = Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B | title = Human septin-septin interaction: CDCrel-1 partners with KIAA0202 | journal = FEBS Letters | volume = 519 | issue = 1–3 | pages = 169–72 | date = May 2002 | pmid = 12023038 | doi = 10.1016/S0014-5793(02)02749-7 | s2cid = 30822245 | doi-access = }} * {{cite journal | vauthors = Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B | title = Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202) | journal = Gene | volume = 312 | pages = 313–20 | date = July 2003 | pmid = 12909369 | doi = 10.1016/S0378-1119(03)00635-8 }} * {{cite journal | vauthors = Dong Z, Ferger B, Paterna JC, Vogel D, Furler S, Osinde M, Feldon J, Büeler H | title = Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 100 | issue = 21 | pages = 12438–43 | date = October 2003 | pmid = 14530399 | pmc = 218776 | doi = 10.1073/pnas.2132992100 | bibcode = 2003PNAS..10012438D | doi-access = free }} * {{cite journal | vauthors = 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 | title = SEPT5_v2 is a parkin-binding protein | journal = Brain Research. Molecular Brain Research | volume = 117 | issue = 2 | pages = 179–89 | date = October 2003 | pmid = 14559152 | doi = 10.1016/S0169-328X(03)00318-8 }} * {{cite journal | vauthors = Bläser S, Horn J, Würmell P, Bauer H, Strümpell S, Nurden P, Pagenstecher A, Busse A, Wunderle D, Hainmann I, Zieger B | title = The novel human platelet septin SEPT8 is an interaction partner of SEPT4 | journal = Thrombosis and Haemostasis | volume = 91 | issue = 5 | pages = 959–66 | date = May 2004 | pmid = 15116257 | doi = 10.1160/TH03-09-0578 | s2cid = 22853459 }} * {{cite journal | vauthors = Martínez C, Sanjuan MA, Dent JA, Karlsson L, Ware J | title = Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol | journal = The Biochemical Journal | volume = 382 | issue = Pt 3 | pages = 783–91 | date = September 2004 | pmid = 15214843 | pmc = 1133953 | doi = 10.1042/BJ20040372 }} * {{cite journal | vauthors = Lehner B, Sanderson CM | title = A protein interaction framework for human mRNA degradation | journal = Genome Research | volume = 14 | issue = 7 | pages = 1315–23 | date = July 2004 | pmid = 15231747 | pmc = 442147 | doi = 10.1101/gr.2122004 }} {{refend}}