SEPT9

Septin-9 is a protein that in humans is encoded by the SEPT9 gene.[5][6][7]

SEPTIN9
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSEPTIN9, AF17q25, MSF, MSF1, NAPB, PNUTL4, SINT1, SeptD1, septin 9, SEPT9
External IDsOMIM: 604061 MGI: 1858222 HomoloGene: 90949 GeneCards: SEPTIN9
Gene location (Human)
Chr.Chromosome 17 (human)[1]
Band17q25.3Start77,280,569 bp[1]
End77,500,596 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

10801

53860

Ensembl

ENSG00000282302
ENSG00000184640

ENSMUSG00000059248

UniProt

Q9UHD8

Q80UG5

RefSeq (mRNA)

NM_001113486
NM_001113487
NM_001113488
NM_017380

RefSeq (protein)

NP_001106958
NP_001106959
NP_001106960
NP_059076

Location (UCSC)Chr 17: 77.28 – 77.5 MbChr 11: 117.2 – 117.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interactions

SEPT9 has been shown to interact with SEPT2[8] and SEPT7.[8]

Function

Along with AHNAK, eIF4E and S100A11, SEPT9 has been shown to be essential for pseudopod protrusion, tumor cell migration and invasion.[9]

Clinical significance

The v2 region of the SEPT9 promoter has been shown to be methylated in colorectal cancer tissue compared with normal colonic mucosa.[10] Using highly sensitive real time PCR assays, methylated SEPT9 was detected in the blood of colorectal cancer patients. This alternate methylation pattern in cancer samples is suggestive of an aberrant activation or repression of the gene compared to normal tissue samples.[11][12]

Testing to detect methylated SEPT9 is not indicated as a first option for colorectal cancer screening.[13] It is similar in specificity and sensitivity to the stool guaiac test or fecal immune tests, and those tests should be used in preference.[13] In cases when the physician aggressively has recommended a colonoscopy and the patient has declined that and these other tests, then this test has advantages over patients having no screening at all.[13]

See also

References

  1. ENSG00000184640 GRCh38: Ensembl release 89: ENSG00000282302, ENSG00000184640 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000059248 - Ensembl, 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. Osaka M, Rowley JD, Zeleznik-Le NJ (May 1999). "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)". Proceedings of the National Academy of Sciences of the United States of America. 96 (11): 6428–33. doi:10.1073/pnas.96.11.6428. PMC 26898. PMID 10339604.
  6. Taki T, Ohnishi H, Shinohara K, Sako M, Bessho F, Yanagisawa M, Hayashi Y (Sep 1999). "AF17q25, a putative septin family gene, fuses the MLL gene in acute myeloid leukemia with t(11;17)(q23;q25)". Cancer Research. 59 (17): 4261–5. PMID 10485469.
  7. "Entrez Gene: SEPT9 septin 9".
  8. Surka MC, Tsang CW, Trimble WS (Oct 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.
  9. Shankar J, Messenberg A, Chan J, Underhill TM, Foster LJ, Nabi IR (May 2010). "Pseudopodial actin dynamics control epithelial-mesenchymal transition in metastatic cancer cells". Cancer Research. 70 (9): 3780–90. doi:10.1158/0008-5472.CAN-09-4439. PMID 20388789.
  10. http://www.transatlantic-symposium.de/content/_docs/doc1241003872263.pdf
  11. Grützmann R, Molnar B, Pilarsky C, Habermann JK, Schlag PM, Saeger HD, Miehlke S, Stolz T, Model F, Roblick UJ, Bruch HP, Koch R, Liebenberg V, Devos T, Song X, Day RH, Sledziewski AZ, Lofton-Day C (2008). "Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay". PLOS ONE. 3 (11): e3759. doi:10.1371/journal.pone.0003759. PMC 2582436. PMID 19018278.
  12. deVos T, Tetzner R, Model F, Weiss G, Schuster M, Distler J, Steiger KV, Grützmann R, Pilarsky C, Habermann JK, Fleshner PR, Oubre BM, Day R, Sledziewski AZ, Lofton-Day C (Jul 2009). "Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer". Clinical Chemistry. 55 (7): 1337–46. doi:10.1373/clinchem.2008.115808. PMID 19406918.
  13. American Society for Clinical Pathology, "Five Things Physicians and Patients Should Question", Choosing Wisely: an initiative of the ABIM Foundation, American Society for Clinical Pathology, retrieved August 1, 2013, which cites
    • Thompson AJ, Muir AJ, Sulkowski MS, Ge D, Fellay J, Shianna KV, Urban T, Afdhal NH, Jacobson IM, Esteban R, Poordad F, Lawitz EJ, McCone J, Shiffman ML, Galler GW, Lee WM, Reindollar R, King JW, Kwo PY, Ghalib RH, Freilich B, Nyberg LM, Zeuzem S, Poynard T, Vock DM, Pieper KS, Patel K, Tillmann HL, Noviello S, Koury K, Pedicone LD, Brass CA, Albrecht JK, Goldstein DB, McHutchison JG (Jul 2010). "Interleukin-28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus". Gastroenterology. 139 (1): 120–9.e18. doi:10.1053/j.gastro.2010.04.013. PMID 20399780.
    • Ahlquist DA, Taylor WR, Mahoney DW, Zou H, Domanico M, Thibodeau SN, Boardman LA, Berger BM, Lidgard GP (Mar 2012). "The stool DNA test is more accurate than the plasma septin 9 test in detecting colorectal neoplasia". Clinical Gastroenterology and Hepatology. 10 (3): 272–7.e1. doi:10.1016/j.cgh.2011.10.008. PMC 3980432. PMID 22019796.

Further reading

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