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Gene Review

SEPT5  -  septin 5

Homo sapiens

Synonyms: CDCREL, CDCREL-1, CDCREL1, CDCrel-1, Cell division control-related protein 1, ...
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Disease relevance of SEPT5


Psychiatry related information on SEPT5


High impact information on SEPT5


Chemical compound and disease context of SEPT5


Biological context of SEPT5


Anatomical context of SEPT5

  • We compare the exon/intron structure of both genes, the steady-state mRNA levels in tumor cell lines and adult organs, the conceptual translation products from alternatively processed mRNAs and the development of specific immunologic reagents distinguishing either PNUTL1 or PNUTL2 [15].
  • In addition, CDCrel-1, a synaptic vesicle associated protein, was found to be a substrate for Parkin as an E3 [16].
  • Normal pancreatic tissue, purified islets, 11 PETs and two cell lines were used to evaluate the presence of PNUTL1 by RT-PCR and Western blot [4].
  • PNUTL1 expression is maintained at similar high levels in hyperplastic and neoplastic islet cells, but this did not correlate with any of the clinicopathological data nor with proliferation status in PETs [4].
  • In the normal pancreas PNUTL1 expression is almost exclusively confined to the islet cells, weak expression was occasionally seen in some acinar cells, while immunoreactivity was completely absent in the ductal epithelia [4].

Associations of SEPT5 with chemical compounds

  • We also identify and show that the synaptic vesicle-associated protein, CDCrel-1, interacts with Parkin through its ring-finger domains [9].
  • The gene encoding the human septin family member HCDCREL-1 has been shown to be transcribed from a locus immediately adjacent to that of the platelet glycoprotein (GP) Ib b [17].
  • When nuclei were isolated from embryonic erythrocytes and incubated with bromodeoxyuridine triphosphate, runoff replication from endogenous nuclease cleavage sites led to a relative enrichment for fragments near the 3' end of the histone H5 gene in the density-labeled DNA [18].
  • When H5 ts125-infected cells were labeled with radioactive leucine at 32 C and subsequently shifted to 39.5 C in the presence of unlabeled leucine (chase), the level of DNA binding proteins found in these infected cells was markedly reduced compared to cultures not shifted to 39.5 C [19].
  • Differential distribution of lysine and arginine residues in the closely related histones H1 and H5. Analysis of a human H1 gene [20].

Other interactions of SEPT5

  • Previously, we identified the interaction of SEPT5 and SEPT8 [12].
  • Using the yeast two-hybrid system, we now demonstrate that SEPT11 partners with SEPT5 [12].
  • These results suggest that AF17q25 and hCDCrel might define a new septin family particularly involved in the pathogenesis of 11q23-associated leukemia [21].
  • Both MLL and hCDCrel contained homologous CT, TTTGTG, and GAA sequences within a few base pairs of their respective breakpoints, which may have been important in uniting these two genes by translocation [2].
  • The HCDCREL-1 gene possesses a non-consensus polyadenylation signal that apparently is not efficiently utilized, resulting in the expression of a readthrough transcript also containing the platelet GPIb beta coding region [17].

Analytical, diagnostic and therapeutic context of SEPT5


  1. Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size. Kato, K., Martinez, C., Russell, S., Nurden, P., Nurden, A., Fiering, S., Ware, J. Blood (2004) [Pubmed]
  2. 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. Megonigal, M.D., Rappaport, E.F., Jones, D.H., Williams, T.M., Lovett, B.D., Kelly, K.M., Lerou, P.H., Moulton, T., Budarf, M.L., Felix, C.A. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  3. A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11. McKie, J.M., Sutherland, H.F., Harvey, E., Kim, U.J., Scambler, P.J. Hum. Genet. (1997) [Pubmed]
  4. Peanut-like 1 (septin 5) gene expression in normal and neoplastic human endocrine pancreas. Capurso, G., Crnogorac-Jurcevic, T., Milione, M., Panzuto, F., Campanini, N., Dowen, S.E., Di Florio, A., Sette, C., Bordi, C., Lemoine, N.R., Delle Fave, G. Neuroendocrinology (2005) [Pubmed]
  5. Association of the cytoskeletal GTP-binding protein Sept4/H5 with cytoplasmic inclusions found in Parkinson's disease and other synucleinopathies. Ihara, M., Tomimoto, H., Kitayama, H., Morioka, Y., Akiguchi, I., Shibasaki, H., Noda, M., Kinoshita, M. J. Biol. Chem. (2003) [Pubmed]
  6. Identification of septins in neurofibrillary tangles in Alzheimer's disease. Kinoshita, A., Kinoshita, M., Akiyama, H., Tomimoto, H., Akiguchi, I., Kumar, S., Noda, M., Kimura, J. Am. J. Pathol. (1998) [Pubmed]
  7. A critical role of helix 3-helix 5 interaction in steroid hormone receptor function. Zhang, J., Simisky, J., Tsai, F.T., Geller, D.S. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  8. A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice. Hiroi, N., Zhu, H., Lee, M., Funke, B., Arai, M., Itokawa, M., Kucherlapati, R., Morrow, B., Sawamura, T., Agatsuma, S. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  9. Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Zhang, Y., Gao, J., Chung, K.K., Huang, H., Dawson, V.L., Dawson, T.M. Proc. Natl. Acad. Sci. U.S.A. (2000) [Pubmed]
  10. MSF (MLL septin-like fusion), a fusion partner gene of MLL, in a therapy-related acute myeloid leukemia with a t(11;17)(q23;q25). Osaka, M., Rowley, J.D., Zeleznik-Le, N.J. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  11. Epitope mapping of histone 5 (H5) with systemic lupus erythematosus, procainamide-induced lupus and hydralazine-induced lupus sera. Pauls, J.D., Edworthy, S.M., Fritzler, M.J. Mol. Immunol. (1993) [Pubmed]
  12. Human endothelial cell septins: SEPT11 is an interaction partner of SEPT5. Bläser, S., Röseler, S., Rempp, H., Bartsch, I., Bauer, H., Lieber, M., Lessmann, E., Weingarten, L., Busse, A., Huber, M., Zieger, B. J. Pathol. (2006) [Pubmed]
  13. Human septin-septin interaction: CDCrel-1 partners with KIAA0202. Bläser, S., Jersch, K., Hainmann, I., Wunderle, D., Zgaga-Griesz, A., Busse, A., Zieger, B. FEBS Lett. (2002) [Pubmed]
  14. Mammalian septin function in hemostasis and beyond. Martinez, C., Ware, J. Exp. Biol. Med. (Maywood) (2004) [Pubmed]
  15. Characterization and expression analysis of two human septin genes, PNUTL1 and PNUTL2. Zieger, B., Tran, H., Hainmann, I., Wunderle, D., Zgaga-Griesz, A., Blaser, S., Ware, J. Gene (2000) [Pubmed]
  16. Parkin and Parkinson's disease. Mizuno, Y., Hattori, N., Mori, H., Suzuki, T., Tanaka, K. Curr. Opin. Neurol. (2001) [Pubmed]
  17. Structure and expression of the human septin gene HCDCREL-1. Yagi, M., Zieger, B., Roth, G.J., Ware, J. Gene (1998) [Pubmed]
  18. Opposite replication polarities of transcribed and nontranscribed histone H5 genes. Trempe, J.P., Lindstrom, Y.I., Leffak, M. Mol. Cell. Biol. (1988) [Pubmed]
  19. Thermolabile DNA binding proteins from cells infected with a temperature-sensitive mutant of adenovrius defective in viral DNA synthesis. Van Der Vliet, P.C., Levine, A.J., Ensinger, M.J., Ginsberg, H.S. J. Virol. (1975) [Pubmed]
  20. Differential distribution of lysine and arginine residues in the closely related histones H1 and H5. Analysis of a human H1 gene. Doenecke, D., Tönjes, R. J. Mol. Biol. (1986) [Pubmed]
  21. AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25). Taki, T., Ohnishi, H., Shinohara, K., Sako, M., Bessho, F., Yanagisawa, M., Hayashi, Y. Cancer Res. (1999) [Pubmed]
  22. Human immunodeficiency virus vectors for inducible expression of foreign genes. Buchschacher, G.L., Panganiban, A.T. J. Virol. (1992) [Pubmed]
  23. The CDCREL1 gene fused to MLL in de novo acute myeloid leukemia with t(11;22)(q23;q11.2) and its frequent expression in myeloid leukemia cell lines. Tatsumi, K., Taki, T., Taniwaki, M., Nakamura, H., Taguchi, J., Chen, Y.Z., Bessho, F., Yanagisawa, M., Hayashi, Y. Genes Chromosomes Cancer (2001) [Pubmed]
  24. Expression of septin 3 isoforms in human brain. Takehashi, M., Tanaka, S., Stedeford, T., Banasik, M., Tsukagoshi-Nagai, H., Kinoshita, N., Kawamata, T., Ueda, K. Gene Expr. (2004) [Pubmed]
  25. Evaluation of the metal binding properties of the histidine-rich antimicrobial peptides histatin 3 and 5 by electrospray ionization mass spectrometry. Brewer, D., Lajoie, G. Rapid Commun. Mass Spectrom. (2000) [Pubmed]
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