SOX6
{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
Transcription factor SOX-6 is a protein that in humans is encoded by the SOX6 gene.{{cite journal | vauthors = Cohen-Barak O, Hagiwara N, Arlt MF, Horton JP, Brilliant MH | title = Cloning, characterization and chromosome mapping of the human SOX6 gene | journal = Gene | volume = 265 | issue = 1–2 | pages = 157–164 | date = March 2001 | pmid = 11255018 | doi = 10.1016/S0378-1119(01)00346-8 }}{{cite web | title = Entrez Gene: SOX6 SRY (sex determining region Y)-box 6| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=55553}}
Function
The SOX gene family encodes a group of transcription factors defined by the conserved high mobility group (HMG) DNA-binding domain. Unlike most transcription factors, SOX transcription factors bind to the minor groove of DNA, causing a 70- to 85-degree bend and introducing local conformational changes.[supplied by OMIM]
Interactions
SOX6 has been shown to interact with CTBP2{{cite journal | vauthors = Murakami A, Ishida S, Thurlow J, Revest JM, Dickson C | title = SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter | journal = Nucleic Acids Research | volume = 29 | issue = 16 | pages = 3347–3355 | date = August 2001 | pmid = 11504872 | pmc = 55854 | doi = 10.1093/nar/29.16.3347 }} and CENPK.{{cite journal | vauthors = Yamashita A, Ito M, Takamatsu N, Shiba T | title = Characterization of Solt, a novel SoxLZ/Sox6 binding protein expressed in adult mouse testis | journal = FEBS Letters | volume = 481 | issue = 2 | pages = 147–151 | date = September 2000 | pmid = 10996314 | doi = 10.1016/S0014-5793(00)01987-6 | s2cid = 20831354 | doi-access = free | bibcode = 2000FEBSL.481..147Y }}
It has also been demonstrated that SOX6 protein accumulates in the differentiating human erythrocytes, and then is able to downregulate its own transcription, by directly binding to an evolutionarily conserved consensus sequences located near SOX6 transcriptional start site.{{cite journal | vauthors = Cantu' C, Grande V, Alborelli I, Cassinelli L, Cantu' I, Colzani MT, Ierardi R, Ronzoni L, Cappellini MD, Ferrari G, Ottolenghi S, Ronchi A | display-authors = 6 | title = A highly conserved SOX6 double binding site mediates SOX6 gene downregulation in erythroid cells | journal = Nucleic Acids Research | volume = 39 | issue = 2 | pages = 486–501 | date = January 2011 | pmid = 20852263 | pmc = 3025548 | doi = 10.1093/nar/gkq819 }}
Sox6 appears to have a crucial role in the transcriptional regulation of globin genes, and in directing the terminal differentiation of red blood cells.{{cite journal | vauthors = Cantù C, Ierardi R, Alborelli I, Fugazza C, Cassinelli L, Piconese S, Bosè F, Ottolenghi S, Ferrari G, Ronchi A | display-authors = 6 | title = Sox6 enhances erythroid differentiation in human erythroid progenitors | journal = Blood | volume = 117 | issue = 13 | pages = 3669–3679 | date = March 2011 | pmid = 21263153 | doi = 10.1182/blood-2010-04-282350 | doi-access = free }} In addition, SOX6 may have a role in tumor growth of Ewing sarcoma.{{cite journal | vauthors = Marchetto A, Ohmura S, Orth MF, Knott MM, Colombo MV, Arrigoni C, Bardinet V, Saucier D, Wehweck FS, Li J, Stein S, Gerke JS, Baldauf MC, Musa J, Dallmayer M, Romero-Pérez L, Hölting TL, Amatruda JF, Cossarizza A, Henssen AG, Kirchner T, Moretti M, Cidre-Aranaz F, Sannino G, Grünewald TG | display-authors = 6 | title = Oncogenic hijacking of a developmental transcription factor evokes vulnerability toward oxidative stress in Ewing sarcoma | journal = Nature Communications | volume = 11 | issue = 1 | pages = 2423 | date = May 2020 | pmid = 32415069 | pmc = 7228971 | doi = 10.1038/s41467-020-16244-2 | bibcode = 2020NatCo..11.2423M | doi-access = free }} A new role of Sox6 in renin and prorenin regulation was studied using a Sox KO mouse model in which Sox6 is only knockout in renin expressing cells. This study showed that renin promoter possesses the binding site for Sox6. The highlight of the study was that Sox6 is one of the key regulators of renin and prorenin regulation and JG cell expansion during low salt and dehydration in mice. PMID 31760770; DOI: 10.1152/ajprenal.00095.2019
See also
References
{{Reflist}}
Further reading
{{refbegin | 2}}
- {{cite journal | vauthors = Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A | title = A conserved family of genes related to the testis determining gene, SRY | journal = Nucleic Acids Research | volume = 20 | issue = 11 | pages = 2887 | date = June 1992 | pmid = 1614875 | pmc = 336939 | doi = 10.1093/nar/20.11.2887 }}
- {{cite journal | vauthors = Lefebvre V, Li P, de Crombrugghe B | title = A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene | journal = The EMBO Journal | volume = 17 | issue = 19 | pages = 5718–5733 | date = October 1998 | pmid = 9755172 | pmc = 1170900 | doi = 10.1093/emboj/17.19.5718 }}
- {{cite journal | vauthors = Hagiwara N, Klewer SE, Samson RA, Erickson DT, Lyon MF, Brilliant MH | title = Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 97 | issue = 8 | pages = 4180–4185 | date = April 2000 | pmid = 10760285 | pmc = 18189 | doi = 10.1073/pnas.97.8.4180 | doi-access = free | bibcode = 2000PNAS...97.4180H }}
- {{cite journal | vauthors = Yamashita A, Ito M, Takamatsu N, Shiba T | title = Characterization of Solt, a novel SoxLZ/Sox6 binding protein expressed in adult mouse testis | journal = FEBS Letters | volume = 481 | issue = 2 | pages = 147–151 | date = September 2000 | pmid = 10996314 | doi = 10.1016/S0014-5793(00)01987-6 | s2cid = 20831354 | doi-access = free | bibcode = 2000FEBSL.481..147Y }}
- {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Research | volume = 10 | issue = 11 | pages = 1788–1795 | date = November 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
- {{cite journal | vauthors = Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A | display-authors = 6 | title = Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs | journal = Genome Research | volume = 11 | issue = 3 | pages = 422–435 | date = March 2001 | pmid = 11230166 | pmc = 311072 | doi = 10.1101/gr.GR1547R }}
- {{cite journal | vauthors = Murakami A, Ishida S, Thurlow J, Revest JM, Dickson C | title = SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter | journal = Nucleic Acids Research | volume = 29 | issue = 16 | pages = 3347–3355 | date = August 2001 | pmid = 11504872 | pmc = 55854 | doi = 10.1093/nar/29.16.3347 }}
- {{cite journal | vauthors = Cohen-Barak O, Yi Z, Hagiwara N, Monzen K, Komuro I, Brilliant MH | title = Sox6 regulation of cardiac myocyte development | journal = Nucleic Acids Research | volume = 31 | issue = 20 | pages = 5941–5948 | date = October 2003 | pmid = 14530442 | pmc = 219484 | doi = 10.1093/nar/gkg807 }}
- {{cite journal | vauthors = Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A | display-authors = 6 | title = From ORFeome to biology: a functional genomics pipeline | journal = Genome Research | volume = 14 | issue = 10B | pages = 2136–2144 | date = October 2004 | pmid = 15489336 | pmc = 528930 | doi = 10.1101/gr.2576704 }}
- {{cite journal | vauthors = Ueda R, Yoshida K, Kawakami Y, Kawase T, Toda M | title = Expression of a transcriptional factor, SOX6, in human gliomas | journal = Brain Tumor Pathology | volume = 21 | issue = 1 | pages = 35–38 | year = 2005 | pmid = 15696967 | doi = 10.1007/BF02482175 | s2cid = 23632021 }}
- {{cite journal | vauthors = Ueda R, Yoshida K, Kawakami Y, Kawase T, Toda M | title = Immunohistochemical analysis of SOX6 expression in human brain tumors | journal = Brain Tumor Pathology | volume = 21 | issue = 3 | pages = 117–120 | year = 2005 | pmid = 15696972 | doi = 10.1007/BF02482186 | s2cid = 27841927 }}
- {{cite journal | vauthors = Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S | display-authors = 6 | title = The LIFEdb database in 2006 | journal = Nucleic Acids Research | volume = 34 | issue = Database issue | pages = D415–D418 | date = January 2006 | pmid = 16381901 | pmc = 1347501 | doi = 10.1093/nar/gkj139 }}
- {{cite journal | vauthors = Fernández-Lloris R, Osses N, Jaffray E, Shen LN, Vaughan OA, Girwood D, Bartrons R, Rosa JL, Hay RT, Ventura F | display-authors = 6 | title = Repression of SOX6 transcriptional activity by SUMO modification | journal = FEBS Letters | volume = 580 | issue = 5 | pages = 1215–1221 | date = February 2006 | pmid = 16442531 | doi = 10.1016/j.febslet.2006.01.031 | s2cid = 38625057 | doi-access = free | bibcode = 2006FEBSL.580.1215F }}
- {{cite journal | vauthors = Ikeda T, Saito T, Ushita M, Yano F, Kan A, Itaka K, Moro T, Nakamura K, Kawaguchi H, Chung UI | display-authors = 6 | title = Identification and characterization of the human SOX6 promoter | journal = Biochemical and Biophysical Research Communications | volume = 357 | issue = 2 | pages = 383–390 | date = June 2007 | pmid = 17433257 | doi = 10.1016/j.bbrc.2007.03.133 }}
{{refend}}
External links
- {{MeshName|SOX6+protein,+human}}
{{NLM content}}
{{PDB Gallery|geneid=55553}}
{{Transcription factors|g4}}
Category:Transcription factors
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