SEPT9

SEPTIN9
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4YQF
Identifiers
Aliases	SEPTIN9 , AF17q25, MSF, MSF1, NAPB, PNUTL4, SINT1, SeptD1, septin 9, SEPT9
External IDs	OMIM: 604061 MGI: 1858222 HomoloGene: 90949 GeneCards: SEPTIN9
Gene location (Human) Chr. Chromosome 17 (human) [1] Band 17q25.3 Start 77,280,569 bp [1] End 77,500,596 bp [1]
Gene location (Mouse) Chr. Chromosome 11 (mouse) [2] Band 11 E2|11 82.61 cM Start 117,090,487 bp [2] End 117,253,151 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in thymus parotid gland lymph node stromal cell of endometrium appendix ganglionic eminence pancreatic ductal cell monocyte spleen visceral pleura Top expressed in ascending aorta thymus internal carotid artery calvaria maxillary prominence yolk sac somite abdominal wall external carotid artery medullary collecting duct More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding GTP binding protein binding GTPase activity cadherin binding molecular adaptor activity Cellular component perinuclear region of cytoplasm axoneme septin complex microtubule cytoskeleton stress fiber actin cytoskeleton cytoplasm non-motile cilium septin ring microtubule cytoskeleton Biological process cell division cell cycle positive regulation of non-motile cilium assembly protein heterooligomerization cilium assembly cytoskeleton-dependent cytokinesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10801 53860 Ensembl ENSG00000282302 ENSG00000184640 ENSMUSG00000059248 UniProt Q9UHD8 Q80UG5 RefSeq (mRNA) NM_001113491 NM_001113492 NM_001113493 NM_001113494 NM_001113495 NM_001113496 NM_001293695 NM_001293696 NM_001293697 NM_001293698 NM_006640 NM_001113486 NM_001113487 NM_001113488 NM_017380 RefSeq (protein) NP_001106963 NP_001106964 NP_001106965 NP_001106966 NP_001106967 NP_001106968 NP_001280624 NP_001280625 NP_001280626 NP_001280627 NP_006631 NP_001106958 NP_001106959 NP_001106960 NP_059076 Location (UCSC) Chr 17: 77.28 – 77.5 Mb Chr 11: 117.09 – 117.25 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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

• Hereditary neuralgic amyotrophy

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): 6428–6433. Bibcode:1999PNAS...96.6428O. 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 (September 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): 4261–4265. PMID   10485469.
7. "Entrez Gene: SEPT9 septin 9".
8. 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): 3532–3545. 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): 3780–3790. doi: 10.1158/0008-5472.CAN-09-4439 . PMID   20388789.
10. Church TR, Wandell M, Lofton-Day C, Mongin SJ, Burger M, Payne SR, et al. (February 2014). "Prospective evaluation of methylated SEPT9 in plasma for detection of asymptomatic colorectal cancer". Gut. 63 (2): 317–325. doi:10.1136/gutjnl-2012-304149. PMC   3913123 . PMID   23408352.
11. Grützmann R, Molnar B, Pilarsky C, Habermann JK, Schlag PM, Saeger HD, et al. (2008). "Sensitive detection of colorectal cancer in peripheral blood by septin 9 DNA methylation assay". PLOS ONE. 3 (11): e3759. Bibcode:2008PLoSO...3.3759G. doi: 10.1371/journal.pone.0003759 . PMC   2582436 . PMID   19018278.
12. deVos T, Tetzner R, Model F, Weiss G, Schuster M, Distler J, et al. (July 2009). "Circulating methylated SEPT9 DNA in plasma is a biomarker for colorectal cancer". Clinical Chemistry. 55 (7): 1337–1346. 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, et al. (July 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, et al. (March 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

• Pellegrino JE, George RA, Biegel J, Farlow MR, Gardner K, Caress J, et al. (December 1997). "Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25". Human Genetics. 101 (3): 277–283. doi:10.1007/s004390050629. PMID   9439655. S2CID   20263885.
• Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, et al. (February 1999). "Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 6 (1): 63–70. doi: 10.1093/dnares/6.1.63 . PMID   10231032.
• Medina M, Marinescu RC, Overhauser J, Kosik KS (January 2000). "Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome". Genomics. 63 (2): 157–164. doi:10.1006/geno.1999.6090. PMID   10673328.
• Kalikin LM, Sims HL, Petty EM (January 2000). "Genomic and expression analyses of alternatively spliced transcripts of the MLL septin-like fusion gene (MSF) that map to a 17q25 region of loss in breast and ovarian tumors". Genomics. 63 (2): 165–172. doi:10.1006/geno.1999.6077. PMID   10673329.
• Russell SE, McIlhatton MA, Burrows JF, Donaghy PG, Chanduloy S, Petty EM, et al. (September 2000). "Isolation and mapping of a human septin gene to a region on chromosome 17q, commonly deleted in sporadic epithelial ovarian tumors". Cancer Research. 60 (17): 4729–4734. PMID   10987277.
• McIlhatton MA, Burrows JF, Donaghy PG, Chanduloy S, Johnston PG, Russell SE (September 2001). "Genomic organization, complex splicing pattern and expression of a human septin gene on chromosome 17q25.3". Oncogene. 20 (41): 5930–5939. doi: 10.1038/sj.onc.1204752 . PMID   11593400.
• Yamamoto K, Shibata F, Yamaguchi M, Miura O (June 2002). "Fusion of MLL and MSF in adult de novo acute myelomonocytic leukemia (M4) with t(11;17)(q23;q25)". International Journal of Hematology. 75 (5): 503–507. doi:10.1007/BF02982114. PMID   12095151. S2CID   28022344.
• 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): 3532–3545. doi:10.1091/mbc.E02-01-0042. PMC   129964 . PMID   12388755.
• Nagata K, Kawajiri A, Matsui S, Takagishi M, Shiromizu T, Saitoh N, et al. (May 2003). "Filament formation of MSF-A, a mammalian septin, in human mammary epithelial cells depends on interactions with microtubules". The Journal of Biological Chemistry. 278 (20): 18538–18543. doi: 10.1074/jbc.M205246200 . PMID   12626509.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, et al. (August 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America. 101 (33): 12130–12135. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC   514446 . PMID   15302935.
• Nagata K, Asano T, Nozawa Y, Inagaki M (December 2004). "Biochemical and cell biological analyses of a mammalian septin complex, Sept7/9b/11". The Journal of Biological Chemistry. 279 (53): 55895–55904. doi: 10.1074/jbc.M406153200 . PMID   15485874.
• Scott M, Hyland PL, McGregor G, Hillan KJ, Russell SE, Hall PA (July 2005). "Multimodality expression profiling shows SEPT9 to be overexpressed in a wide range of human tumours". Oncogene. 24 (29): 4688–4700. doi: 10.1038/sj.onc.1208574 . PMID   15782116.
• Ito H, Iwamoto I, Morishita R, Nozawa Y, Narumiya S, Asano T, Nagata K (October 2005). "Possible role of Rho/Rhotekin signaling in mammalian septin organization". Oncogene. 24 (47): 7064–7072. doi: 10.1038/sj.onc.1208862 . PMID   16007136.
• Scott M, McCluggage WG, Hillan KJ, Hall PA, Russell SE (March 2006). "Altered patterns of transcription of the septin gene, SEPT9, in ovarian tumorigenesis". International Journal of Cancer. 118 (5): 1325–1329. doi: 10.1002/ijc.21486 . PMID   16161048. S2CID   37031210.
• Kuhlenbäumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, et al. (October 2005). "Mutations in SEPT9 cause hereditary neuralgic amyotrophy". Nature Genetics. 37 (10): 1044–1046. doi:10.1038/ng1649. PMID   16186812. S2CID   1756558.