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SEPT6

From Wikipedia, the free encyclopedia
SEPTIN6
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSEPTIN6, SEP2, SEPT2, septin 6, SEPT6
External IDsOMIM: 300683; MGI: 1888939; HomoloGene: 62617; GeneCards: SEPTIN6; OMA:SEPTIN6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015129
NM_145799
NM_145800
NM_145802

RefSeq (protein)

NP_055944
NP_665798
NP_665799
NP_665801

Location (UCSC)Chr X: 119.62 – 119.69 MbChr X: 36.17 – 36.26 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Septin-6 is a protein that in humans is encoded by the SEPT6 gene.[5][6][7]

Function

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This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined.[7]

Clinical significance

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One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins.[7]

Interactions

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SEPT6 has been shown to interact with SEPT2.[8][9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000125354Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050379Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Nagase T, Seki N, Tanaka A, Ishikawa K, Nomura N (August 1995). "Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1". DNA Research. 2 (4): 167–74, 199–210. CiteSeerX 10.1.1.333.6945. doi:10.1093/dnares/2.4.167. PMID 8590280.
  6. ^ Xue J, Wang X, Malladi CS, Kinoshita M, Milburn PJ, Lengyel I, Rostas JA, Robinson PJ (April 2000). "Phosphorylation of a new brain-specific septin, G-septin, by cGMP-dependent protein kinase". The Journal of Biological Chemistry. 275 (14): 10047–56. doi:10.1074/jbc.275.14.10047. PMID 10744683.
  7. ^ a b c "Entrez Gene: SEPT6 septin 6".
  8. ^ Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
  9. ^ Surka MC, Tsang CW, Trimble WS (October 2002). "The mammalian septin MSF localizes with microtubules and is required for completion of cytokinesis". Molecular Biology of the Cell. 13 (10): 3532–45. doi:10.1091/mbc.E02-01-0042. PMC 129964. PMID 12388755.

Further reading

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