SOX6

SOX6
Identifiers
Aliases	SOX6 , HSSOXD, SRY-box 6, SRY-box transcription factor 6, TOLCAS
External IDs	OMIM: 607257 MGI: 98368 HomoloGene: 22631 GeneCards: SOX6
Gene location (Human) Chr. Chromosome 11 (human) [1] Band 11p15.2 Start 15,966,449 bp [1] End 16,739,591 bp [1]
Gene location (Mouse) Chr. Chromosome 7 (mouse) [2] Band 7 F1|7 61.29 cM Start 115,470,872 bp [2] End 116,038,796 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell tibia deltoid muscle sperm sural nerve tibialis anterior muscle pancreatic ductal cell jejunal mucosa Achilles tendon retinal pigment epithelium Top expressed in triceps brachii muscle vastus lateralis muscle temporal muscle sternocleidomastoid muscle knee joint medial ganglionic eminence digastric muscle seminiferous tubule tibialis anterior muscle intercostal muscle More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding sequence-specific DNA binding DNA-binding transcription factor activity protein binding protein heterodimerization activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleoplasm nucleus Biological process cellular response to transforming growth factor beta stimulus 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 by RNA polymerase II 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 by RNA polymerase II erythrocyte development negative regulation of cardiac muscle cell differentiation hemopoiesis 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_001367872 NM_001367873 NM_001025559 NM_001025560 NM_001277326 NM_001277327 NM_001277328 NM_011445 RefSeq (protein) NP_001139283 NP_001139291 NP_059978 NP_201583 NP_001354801 NP_001354802 NP_001020730 NP_001020731 NP_001264255 NP_001264256 NP_001264257 NP_035575 Location (UCSC) Chr 11: 15.97 – 16.74 Mb Chr 7: 115.47 – 116.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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] In addition, SOX6 may have a role in tumor growth of Ewing sarcoma. ^[11] 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

• SOX genes

References

1. GRCh38: Ensembl release 89: ENSG00000110693 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000051910 - 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. Cohen-Barak O, Hagiwara N, Arlt MF, Horton JP, Brilliant MH (March 2001). "Cloning, characterization and chromosome mapping of the human SOX6 gene". Gene. 265 (1–2): 157–164. doi:10.1016/S0378-1119(01)00346-8. PMID   11255018.
6. "Entrez Gene: SOX6 SRY (sex determining region Y)-box 6".
7. Murakami A, Ishida S, Thurlow J, Revest JM, Dickson C (August 2001). "SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter". Nucleic Acids Research. 29 (16): 3347–3355. doi:10.1093/nar/29.16.3347. PMC   55854 . PMID   11504872.
8. Yamashita A, Ito M, Takamatsu N, Shiba T (September 2000). "Characterization of Solt, a novel SoxLZ/Sox6 binding protein expressed in adult mouse testis". FEBS Letters. 481 (2): 147–151. doi: 10.1016/S0014-5793(00)01987-6 . PMID   10996314. S2CID   20831354.
9. Cantu' C, Grande V, Alborelli I, Cassinelli L, Cantu' I, Colzani MT, et al. (January 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, et al. (March 2011). "Sox6 enhances erythroid differentiation in human erythroid progenitors". Blood. 117 (13): 3669–3679. doi: 10.1182/blood-2010-04-282350 . PMID   21263153.
11. Marchetto A, Ohmura S, Orth MF, Knott MM, Colombo MV, Arrigoni C, et al. (May 2020). "Oncogenic hijacking of a developmental transcription factor evokes vulnerability toward oxidative stress in Ewing sarcoma". Nature Communications. 11 (1): 2423. Bibcode:2020NatCo..11.2423M. doi: 10.1038/s41467-020-16244-2 . PMC   7228971 . PMID   32415069.

Further reading

• Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (June 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 (October 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): 5718–5733. doi:10.1093/emboj/17.19.5718. PMC   1170900 . PMID   9755172.
• Hagiwara N, Klewer SE, Samson RA, Erickson DT, Lyon MF, Brilliant MH (April 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): 4180–4185. Bibcode:2000PNAS...97.4180H. doi: 10.1073/pnas.97.8.4180 . PMC   18189 . PMID   10760285.
• Yamashita A, Ito M, Takamatsu N, Shiba T (September 2000). "Characterization of Solt, a novel SoxLZ/Sox6 binding protein expressed in adult mouse testis". FEBS Letters. 481 (2): 147–151. doi: 10.1016/S0014-5793(00)01987-6 . PMID   10996314. S2CID   20831354.
• Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–1795. doi:10.1101/gr.143000. PMC   310948 . PMID   11076863.
• Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–435. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Murakami A, Ishida S, Thurlow J, Revest JM, Dickson C (August 2001). "SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter". Nucleic Acids Research. 29 (16): 3347–3355. doi:10.1093/nar/29.16.3347. PMC   55854 . PMID   11504872.
• Cohen-Barak O, Yi Z, Hagiwara N, Monzen K, Komuro I, Brilliant MH (October 2003). "Sox6 regulation of cardiac myocyte development". Nucleic Acids Research. 31 (20): 5941–5948. doi:10.1093/nar/gkg807. PMC   219484 . PMID   14530442.
• Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research. 14 (10B): 2136–2144. 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): 35–38. doi:10.1007/BF02482175. PMID   15696967. S2CID   23632021.
• 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): 117–120. doi:10.1007/BF02482186. PMID   15696972. S2CID   27841927.
• Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research. 34 (Database issue): D415–D418. doi:10.1093/nar/gkj139. PMC   1347501 . PMID   16381901.
• Fernández-Lloris R, Osses N, Jaffray E, Shen LN, Vaughan OA, Girwood D, et al. (February 2006). "Repression of SOX6 transcriptional activity by SUMO modification". FEBS Letters. 580 (5): 1215–1221. doi: 10.1016/j.febslet.2006.01.031 . PMID   16442531. S2CID   38625057.
• Ikeda T, Saito T, Ushita M, Yano F, Kan A, Itaka K, et al. (June 2007). "Identification and characterization of the human SOX6 promoter". Biochemical and Biophysical Research Communications. 357 (2): 383–390. doi:10.1016/j.bbrc.2007.03.133. PMID   17433257.

External links

• SOX6+protein,+human at the U.S. 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.