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.
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^Liu, Min; Aneja Ritu, Sun Xiaodong, Xie Songbo, Wang Hongxia, Wu Xiaojing, Dong Jin-Tang, Li Minggang, Joshi Harish C, Zhou Jun (Dec 2008). "Parkin regulates Eg5 expression by Hsp70 ubiquitination-dependent inactivation of c-Jun NH2-terminal kinase". J. Biol. Chem. (United States) 283 (51): 35783–8. doi:10.1074/jbc.M806860200. ISSN0021-9258. PMID18845538.Cite uses deprecated parameters (help)
Yagi M, Edelhoff S, Disteche CM, Roth GJ (1994). "Structural characterization and chromosomal location of the gene encoding human platelet glycoprotein Ib beta". J. Biol. Chem.269 (26): 17424–7. PMID8021244.
Hsu SC, Hazuka CD, Roth R et al. (1998). "Subunit composition, protein interactions, and structures of the mammalian brain sec6/8 complex and septin filaments". Neuron20 (6): 1111–22. doi:10.1016/S0896-6273(00)80493-6. PMID9655500.
Larisch S, Yi Y, Lotan R et al. (2001). "A novel mitochondrial septin-like protein, ARTS, mediates apoptosis dependent on its P-loop motif". Nat. Cell Biol.2 (12): 915–21. doi:10.1038/35046566. PMID11146656.
Bläser S, Jersch K, Hainmann I et al. (2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene312: 313–20. doi:10.1016/S0378-1119(03)00635-8. PMID12909369.