SEPT5

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Septin 5
Identifiers
Symbols SEPT5 ; CDCREL; CDCREL-1; CDCREL1; H5; HCDCREL-1; PNUTL1
External IDs OMIM602724 MGI1195461 HomoloGene74446 GeneCards: SEPT5 Gene
EC number 3.1.5.1
RNA expression pattern
PBB GE SEPT5 209767 s at tn.png
PBB GE SEPT5 209768 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 5413 18951
Ensembl ENSG00000184702 ENSMUSG00000072214
UniProt Q99719 Q9Z2Q6
RefSeq (mRNA) NM_001009939 NM_213614
RefSeq (protein) NP_001009939 NP_998779
Location (UCSC) Chr 22:
19.7 – 19.71 Mb
Chr 16:
18.62 – 18.63 Mb
PubMed search [1] [2]

Septin-5 is a protein that in humans is encoded by the SEPT5 gene.[1][2][3]

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]

Interactions[edit]

SEPT5 has been shown to interact with SEPT8[4][5] and Parkin (ligase).[6][7]

References[edit]

  1. ^ McKie JM, Sutherland HF, Harvey E, Kim UJ, Scambler PJ (Dec 1997). "A human gene similar to Drosophila melanogaster peanut maps to the DiGeorge syndrome region of 22q11". Hum Genet 101 (1): 6–12. doi:10.1007/s004390050576. PMID 9385360. 
  2. ^ Yagi M, Zieger B, Roth GJ, Ware J (Jul 1998). "Structure and expression of the human septin gene HCDCREL-1". Gene 212 (2): 229–36. doi:10.1016/S0378-1119(98)00146-2. PMID 9611266. 
  3. ^ a b "Entrez Gene: SEPT5 septin 5". 
  4. ^ Bläser, Susanne; Jersch Katrin, Hainmann Ina, Zieger Wolfgang, Wunderle Daniela, Busse Anja, Zieger Barbara (Jul 2003). "Isolation of new splice isoforms, characterization and expression analysis of the human septin SEPT8 (KIAA0202)". Gene (Netherlands) 312: 313–20. doi:10.1016/S0378-1119(03)00635-8. ISSN 0378-1119. PMID 12909369. 
  5. ^ Bläser, Susanne; Jersch Katrin, Hainmann Ina, Wunderle Daniela, Zgaga-Griesz Andrea, Busse Anja, Zieger Barbara (May 2002). "Human septin-septin interaction: CDCrel-1 partners with KIAA0202". FEBS Lett. (Netherlands) 519 (1–3): 169–72. doi:10.1016/S0014-5793(02)02749-7. ISSN 0014-5793. PMID 12023038. 
  6. ^ Choi, P; Snyder H, Petrucelli L, Theisler C, Chong M, Zhang Y, Lim K, Chung K K K, Kehoe K, D'Adamio L, Lee J M, Cochran E, Bowser R, Dawson T M, Wolozin B (Oct 2003). "SEPT5_v2 is a parkin-binding protein". Brain Res. Mol. Brain Res. (Netherlands) 117 (2): 179–89. doi:10.1016/S0169-328X(03)00318-8. ISSN 0169-328X. PMID 14559152. 
  7. ^ 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. ISSN 0021-9258. PMID 18845538. 

Further reading[edit]