SEPT5

SEPT5
Identifiers
AliasesSEPT5, CDCREL, CDCREL-1, CDCREL1, H5, HCDCREL-1, PNUTL1, septin 5
External IDsMGI: 1195461 HomoloGene: 74446 GeneCards: SEPT5
Gene location (Human)
Chr.Chromosome 22 (human)[1]
BandNo data availableStart19,714,464 bp[1]
End19,724,772 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5413

18951

Ensembl

ENSG00000184702

ENSMUSG00000072214

UniProt

Q99719

Q9Z2Q6

RefSeq (mRNA)

NM_002688
NM_001009939

NM_213614

RefSeq (protein)

NP_001009939
NP_002679

NP_998779

Location (UCSC)Chr 22: 19.71 – 19.72 MbChr 22: 18.62 – 18.63 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Septin-5 is a protein that in humans is encoded by the SEPT5 gene.[5][6][7]

Function

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.[7]

Interactions

SEPT5 has been shown to interact with:

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000184702 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000072214 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ 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. PMID 9385360. doi:10.1007/s004390050576.
  6. ↑ 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. PMID 9611266. doi:10.1016/S0378-1119(98)00146-2.
  7. 1 2 "Entrez Gene: SEPT5 septin 5".
  8. ↑ 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. PMID 14559152. doi:10.1016/S0169-328X(03)00318-8.
  9. ↑ 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. PMID 18845538. doi:10.1074/jbc.M806860200.
  10. ↑ 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. PMID 12909369. doi:10.1016/S0378-1119(03)00635-8.
  11. ↑ 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. PMID 12023038. doi:10.1016/S0014-5793(02)02749-7.

Further reading

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