SEPT5

Septin 5, also known as SEPT5, is a human gene.cite web | title = Entrez Gene: SEPT5 septin 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5413| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: SEPT5 septin 5| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5413| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Yagi M, Edelhoff S, Disteche CM, Roth GJ |title=Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta. |journal=J. Biol. Chem. |volume=269 |issue= 26 |pages= 17424–7 |year= 1994 |pmid= 8021244 |doi=
*cite journal | author=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=J. Clin. Invest. |volume=99 |issue= 3 |pages= 520–5 |year= 1997 |pmid= 9022087 |doi=
*cite journal | author=McKie JM, Sutherland HF, Harvey E, "et al." |title=A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. |journal=Hum. Genet. |volume=101 |issue= 1 |pages= 6–12 |year= 1997 |pmid= 9385360 |doi=
*cite journal | author=Megonigal MD, Rappaport EF, Jones DH, "et al." |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=Proc. Natl. Acad. Sci. U.S.A. |volume=95 |issue= 11 |pages= 6413–8 |year= 1998 |pmid= 9600980 |doi=
*cite journal | author=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 |year= 1998 |pmid= 9611266 |doi=
*cite journal | author=Hsu SC, Hazuka CD, Roth R, "et al." |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 |year= 1998 |pmid= 9655500 |doi=
*cite journal | author=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 |year= 1998 |pmid= 9760144 |doi=
*cite journal | author=Beites CL, Xie H, Bowser R, Trimble WS |title=The septin CDCrel-1 binds syntaxin and inhibits exocytosis. |journal=Nat. Neurosci. |volume=2 |issue= 5 |pages= 434–9 |year= 1999 |pmid= 10321247 |doi= 10.1038/8100
*cite journal | author=Zhang Y, Gao J, Chung KK, "et al." |title=Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 24 |pages= 13354–9 |year= 2001 |pmid= 11078524 |doi= 10.1073/pnas.240347797
*cite journal | author=Larisch S, Yi Y, Lotan R, "et al." |title=A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif. |journal=Nat. Cell Biol. |volume=2 |issue= 12 |pages= 915–21 |year= 2001 |pmid= 11146656 |doi= 10.1038/35046566
*cite journal | author=Dent J, Kato K, Peng XR, "et al." |title=A prototypic platelet septin and its participation in secretion. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 5 |pages= 3064–9 |year= 2002 |pmid= 11880646 |doi= 10.1073/pnas.052715199
*cite journal | author=Bläser S, Jersch K, Hainmann I, "et al." |title=Human septin-septin interaction: CDCrel-1 partners with KIAA0202. |journal=FEBS Lett. |volume=519 |issue= 1-3 |pages= 169–72 |year= 2002 |pmid= 12023038 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Bläser S, Jersch K, Hainmann I, "et al." |title=Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202). |journal=Gene |volume=312 |issue= |pages= 313–20 |year= 2003 |pmid= 12909369 |doi=
*cite journal | author=Dong Z, Ferger B, Paterna JC, "et al." |title=Dopamine-dependent neurodegeneration in rats induced by viral vector-mediated overexpression of the parkin target protein, CDCrel-1. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 21 |pages= 12438–43 |year= 2003 |pmid= 14530399 |doi= 10.1073/pnas.2132992100
*cite journal | author=Choi P, Snyder H, Petrucelli L, "et al." |title=SEPT5_v2 is a parkin-binding protein. |journal=Brain Res. Mol. Brain Res. |volume=117 |issue= 2 |pages= 179–89 |year= 2004 |pmid= 14559152 |doi=
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Bläser S, Horn J, Würmell P, "et al." |title=The novel human platelet septin SEPT8 is an interaction partner of SEPT4. |journal=Thromb. Haemost. |volume=91 |issue= 5 |pages= 959–66 |year= 2004 |pmid= 15116257 |doi= 10.1267/THRO04050959
*cite journal | author=Martínez C, Sanjuan MA, Dent JA, "et al." |title=Human septin-septin interactions as a prerequisite for targeting septin complexes in the cytosol. |journal=Biochem. J. |volume=382 |issue= Pt 3 |pages= 783–91 |year= 2005 |pmid= 15214843 |doi= 10.1042/BJ20040372
*cite journal | author=Lehner B, Sanderson CM |title=A protein interaction framework for human mRNA degradation. |journal=Genome Res. |volume=14 |issue= 7 |pages= 1315–23 |year= 2004 |pmid= 15231747 |doi= 10.1101/gr.2122004

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