en 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; OMA:SOX6 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	16,739,591 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	116,038,796 bp
RNA expression pattern
	Top expressed in
	pancreatic epithelial cell; ; tibia; ; deltoid muscle; ; sperm; ; sural nerve; ; mucosa of ileum; ; tibialis anterior muscle; ; pancreatic ductal cell; ; ventricular zone; ; jejunal mucosa;
	Top expressed in
	triceps brachii muscle; ; vastus lateralis muscle; ; fetal liver hematopoietic progenitor cell; ; temporal muscle; ; sternocleidomastoid muscle; ; muscle of thigh; ; knee joint; ; ventricular zone; ; medial ganglionic eminence; ; medial head of gastrocnemius muscle;
	More reference expression data
	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
	55553
	20679
	ENSG00000110693
	ENSMUSG00000051910
	P35712
	P40645
NM_033326; NM_001145811; NM_001145819; NM_017508; NM_001367872;
	NM_001367873
NM_001025559; NM_001025560; NM_001277326; NM_001277327; NM_001277328;
	NM_011445
NP_001139283; NP_001139291; NP_059978; NP_201583; NP_001354801;
	NP_001354802
NP_001020730; NP_001020731; NP_001264255; NP_001264256; NP_001264257;
	NP_035575
	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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000110693 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000051910 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ ^a ^b "Entrez Gene: SOX6 SRY (sex determining region Y)-box 6".
^ 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.
^ 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. Bibcode:2000FEBSL.481..147Y. doi:10.1016/S0014-5793(00)01987-6. PMID 10996314. S2CID 20831354.
^ 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.
^ 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.
^ 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.

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.

This article on a gene on human chromosome 11 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000110693 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid11255018-5] 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.

[entrez-6] "Entrez Gene: SOX6 SRY (sex determining region Y)-box 6".

[pmid11504872-7] 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.

[pmid10996314-8] 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. Bibcode:2000FEBSL.481..147Y. doi:10.1016/S0014-5793(00)01987-6. PMID 10996314. S2CID 20831354.

[pmid20852263-9] 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.

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SOX6

Function

Interactions

See also

References

Further reading

External links

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