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.[3]
↑McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ (November 1997). "A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11". Human Genetics. 101 (1): 6–12. doi:10.1007/s004390050576. PMID9385360.
↑Yagi M, Zieger B, Roth GJ, Ware J (June 1998). "Structure and expression of the human septin gene HCDCREL-1". Gene. 212 (2): 229–36. doi:10.1016/S0378-1119(98)00146-2. PMID9611266.
↑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 (October 2003). "SEPT5_v2 is a parkin-binding protein". Brain Research. Molecular Brain Research. 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. PMID14559152.
↑Liu M, Aneja R, Sun X, Xie S, Wang H, Wu X, Dong JT, Li M, Joshi HC, Zhou J (December 2008). "Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase". The Journal of Biological Chemistry. 283 (51): 35783–8. doi:10.1074/jbc.M806860200. PMID18845538.
↑Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B (July 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene. 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID12909369.
↑Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Letters. 519 (1–3): 169–72. doi:10.1016/S0014-5793(02)02749-7. PMID12023038.
Further reading
Yagi M, Edelhoff S, Disteche CM, Roth GJ (July 1994). "Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta". The Journal of Biological Chemistry. 269 (26): 17424–7. PMID8021244.
Hsu SC, Hazuka CD, Roth R, Foletti DL, Heuser J, Scheller RH (June 1998). "Subunit composition, protein interactions, and structures of the mammalian brain sec6/8 complex and septin filaments". Neuron. 20 (6): 1111–22. doi:10.1016/S0896-6273(00)80493-6. PMID9655500.
Caltagarone J, Rhodes J, Honer WG, Bowser R (August 1998). "Localization of a novel septin protein, hCDCrel-1, in neurons of human brain". Neuroreport. 9 (12): 2907–12. doi:10.1097/00001756-199808240-00042. PMID9760144.
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 (December 2000). "A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif". Nature Cell Biology. 2 (12): 915–21. doi:10.1038/35046566. PMID11146656.
Bläser S, Jersch K, Hainmann I, Wunderle D, Zgaga-Griesz A, Busse A, Zieger B (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Letters. 519 (1–3): 169–72. doi:10.1016/S0014-5793(02)02749-7. PMID12023038.
Bläser S, Jersch K, Hainmann I, Zieger W, Wunderle D, Busse A, Zieger B (July 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene. 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID12909369.
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 (October 2003). "SEPT5_v2 is a parkin-binding protein". Brain Research. Molecular Brain Research. 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. PMID14559152.
Bläser S, Horn J, Würmell P, Bauer H, Strümpell S, Nurden P, Pagenstecher A, Busse A, Wunderle D, Hainmann I, Zieger B (May 2004). "The novel human platelet septin SEPT8 is an interaction partner of SEPT4". Thrombosis and Haemostasis. 91 (5): 959–66. doi:10.1160/TH03-09-0578. PMID15116257.