SOX6

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SOX6
PBB Protein SOX6 image.jpg
Identifiers
Aliases SOX6, HSSOXD, SRY-box 6
External IDs MGI: 98368 HomoloGene: 22631 GeneCards: 55553
Genetically Related Diseases
Disease Name References
Osteoporosis
obesity
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_033326
NM_001145811
NM_001145819
NM_017508

RefSeq (protein)

NP_001139283.1
NP_001139291.1
NP_059978.1
NP_201583.2

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 [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[edit]

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[edit]

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[edit]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_11476&geneId=299132". 
  2. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_9970&geneId=299132". 
  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. ^ a b "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 55854free to read. 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 3025548free to read. 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[edit]

External links[edit]

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