SOX6

SOX6
Identifiers
AliasesSOX6, HSSOXD, SRY-box 6
External IDsMGI: 98368 HomoloGene: 22631 GeneCards: SOX6
Gene location (Human)
Chr.Chromosome 11 (human)[1]
Band11p15.2Start15,966,449 bp[1]
End16,739,591 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

55553

20679

Ensembl

ENSG00000110693

ENSMUSG00000051910

UniProt

P35712

P40645

RefSeq (mRNA)

NM_033326
NM_001145811
NM_001145819
NM_017508

RefSeq (protein)

NP_001139283
NP_001139291
NP_059978
NP_201583

Location (UCSC)Chr 11: 15.97 – 16.74 MbChr 7: 115.47 – 116.04 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-6 is a protein that in humans is encoded by the SOX6 gene.[5][6]

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][6]

Interactions

SOX6 has been shown to interact with CTBP2[7] and CENPK.[8]

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.[9]

Sox6 appears to have a crucial role in the transcriptional regulation of globin genes, and in directing the terminal differentiation of red blood cells.[10]

See also

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000110693 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051910 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ Cohen-Barak O, Hagiwara N, Arlt MF, Horton JP, Brilliant MH (Mar 2001). "Cloning, characterization and chromosome mapping of the human SOX6 gene". Gene. 265 (1–2): 157–64. doi:10.1016/S0378-1119(01)00346-8. PMID 11255018.
  6. 1 2 "Entrez Gene: SOX6 SRY (sex determining region Y)-box 6".
  7. ↑ Murakami A, Ishida S, Thurlow J, Revest JM, Dickson C (Aug 2001). "SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter". Nucleic Acids Research. 29 (16): 3347–55. doi:10.1093/nar/29.16.3347. PMC 55854. PMID 11504872.
  8. ↑ Yamashita A, Ito M, Takamatsu N, Shiba T (Sep 2000). "Characterization of Solt, a novel SoxLZ/Sox6 binding protein expressed in adult mouse testis". FEBS Letters. 481 (2): 147–51. doi:10.1016/S0014-5793(00)01987-6. PMID 10996314.
  9. ↑ Cantu' C, Grande V, Alborelli I, Cassinelli L, Cantu' I, Colzani MT, Ierardi R, Ronzoni L, Cappellini MD, Ferrari G, Ottolenghi S, Ronchi A (Jan 2011). "A highly conserved SOX6 double binding site mediates SOX6 gene downregulation in erythroid cells". Nucleic Acids Research. 39 (2): 486–501. doi:10.1093/nar/gkq819. PMC 3025548. PMID 20852263.
  10. ↑ Cantù C, Ierardi R, Alborelli I, Fugazza C, Cassinelli L, Piconese S, Bosè F, Ottolenghi S, Ferrari G, Ronchi A (Mar 2011). "Sox6 enhances erythroid differentiation in human erythroid progenitors". Blood. 117 (13): 3669–79. doi:10.1182/blood-2010-04-282350. PMID 21263153.

Further reading

  • Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (Jun 1992). "A conserved family of genes related to the testis determining gene, SRY". Nucleic Acids Research. 20 (11): 2887. doi:10.1093/nar/20.11.2887. PMC 336939. PMID 1614875.
  • Lefebvre V, Li P, de Crombrugghe B (Oct 1998). "A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene". The EMBO Journal. 17 (19): 5718–33. doi:10.1093/emboj/17.19.5718. PMC 1170900. PMID 9755172.
  • Hagiwara N, Klewer SE, Samson RA, Erickson DT, Lyon MF, Brilliant MH (Apr 2000). "Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death". Proceedings of the National Academy of Sciences of the United States of America. 97 (8): 4180–5. doi:10.1073/pnas.97.8.4180. PMC 18189. PMID 10760285.
  • Yamashita A, Ito M, Takamatsu N, Shiba T (Sep 2000). "Characterization of Solt, a novel SoxLZ/Sox6 binding protein expressed in adult mouse testis". FEBS Letters. 481 (2): 147–51. doi:10.1016/S0014-5793(00)01987-6. PMID 10996314.
  • Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
  • 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 (Mar 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
  • Murakami A, Ishida S, Thurlow J, Revest JM, Dickson C (Aug 2001). "SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter". Nucleic Acids Research. 29 (16): 3347–55. doi:10.1093/nar/29.16.3347. PMC 55854. PMID 11504872.
  • Cohen-Barak O, Yi Z, Hagiwara N, Monzen K, Komuro I, Brilliant MH (Oct 2003). "Sox6 regulation of cardiac myocyte development". Nucleic Acids Research. 31 (20): 5941–8. doi:10.1093/nar/gkg807. PMC 219484. PMID 14530442.
  • Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (Oct 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
  • Ueda R, Yoshida K, Kawakami Y, Kawase T, Toda M (2005). "Expression of a transcriptional factor, SOX6, in human gliomas". Brain Tumor Pathology. 21 (1): 35–8. doi:10.1007/BF02482175. PMID 15696967.
  • Ueda R, Yoshida K, Kawakami Y, Kawase T, Toda M (2005). "Immunohistochemical analysis of SOX6 expression in human brain tumors". Brain Tumor Pathology. 21 (3): 117–20. doi:10.1007/BF02482186. PMID 15696972.
  • 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 (Jan 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
  • Fernández-Lloris R, Osses N, Jaffray E, Shen LN, Vaughan OA, Girwood D, Bartrons R, Rosa JL, Hay RT, Ventura F (Feb 2006). "Repression of SOX6 transcriptional activity by SUMO modification". FEBS Letters. 580 (5): 1215–21. doi:10.1016/j.febslet.2006.01.031. PMID 16442531.
  • Ikeda T, Saito T, Ushita M, Yano F, Kan A, Itaka K, Moro T, Nakamura K, Kawaguchi H, Chung UI (Jun 2007). "Identification and characterization of the human SOX6 promoter". Biochemical and Biophysical Research Communications. 357 (2): 383–90. doi:10.1016/j.bbrc.2007.03.133. PMID 17433257.

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