SOX6

SOX6
Identifiers
Aliases	SOX6, HSSOXD, SRY-box 6
External IDs	MGI: 98368 HomoloGene: 22631 GeneCards: SOX6
Genetically Related Diseases
osteoporosis, obesity
Gene ontology Molecular function • DNA binding • sequence-specific DNA binding • transcription factor activity, sequence-specific DNA binding • protein binding • protein heterodimerization activity • transcription regulatory region DNA binding Cellular component • nucleoplasm • nucleus Biological process • cellular response to transforming growth factor beta stimulus • gene silencing • hemopoiesis • cell fate commitment • regulation of transcription, DNA-templated • cardiac muscle cell differentiation • muscle organ development • oligodendrocyte differentiation • in utero embryonic development • negative regulation of transcription from RNA polymerase II promoter • post-embryonic development • transcription, DNA-templated • positive regulation of mesenchymal stem cell differentiation • multicellular organism development • positive regulation of transcription, DNA-templated • oligodendrocyte cell fate specification • muscle cell differentiation • cartilage development • astrocyte differentiation • positive regulation of cartilage development • positive regulation of chondrocyte differentiation • cell morphogenesis • regulation of gene expression • erythrocyte differentiation • negative regulation of transcription, DNA-templated • positive regulation of transcription from RNA polymerase II promoter • erythrocyte development • negative regulation of cardiac muscle cell differentiation Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	55553	20679
Ensembl	ENSG00000110693	ENSMUSG00000051910
UniProt	P35712	P40645
RefSeq (mRNA)	NM_033326 NM_001145811 NM_001145819 NM_017508	NM_001025559 NM_001025560 NM_001277326 NM_001277327 NM_001277328 NM_011445
RefSeq (protein)	NP_001139283 NP_001139291 NP_059978 NP_201583	NP_001264255.1 NP_001264257.1 NP_035575.1
Location (UCSC)	Chr 11: 15.97 – 16.74 Mb	Chr 7: 115.47 – 116.04 Mb
PubMed search
Wikidata
View/Edit Human		View/Edit Mouse

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

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 and CENPK.

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.

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

See also

• SOX genes

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. 

External links

• SOX6 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.