SATB1

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SATB1
Protein SATB1 PDB 1yse.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSATB1, SATB homeobox 1, DEFDA, KTZSL
External IDsOMIM: 602075 MGI: 105084 HomoloGene: 2232 GeneCards: SATB1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)Chr 3: 18.35 – 18.45 MbChr 17: 52.04 – 52.14 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

SATB1 (special AT-rich sequence-binding protein-1) is a protein which in humans is encoded by the SATB1 gene.[5]

Function[edit]

SATB1, the global chromatin organizer and transcription factor, has emerged as a key factor integrating higher-order chromatin architecture with gene regulation.[6] Recent studies have unraveled the role of SATB1 in organization of chromatin 'loopscape' and its dynamic nature in response to physiological stimuli.[7] At genome-wide level, SATB1 seems to play a role in organization of the transcriptionally poised chromatin. SATB1 organizes the MHC class-I locus into distinct chromatin loops by tethering MARs to nuclear matrix at fixed distances. Silencing of SATB1 mimics the effects of IFN-γ treatment on chromatin loop architecture of the MHC class I locus and altered expression of genes within the locus. SATB1 has also been shown to induce breast cancer tumor growth and metastasis through the altered expression of large numbers of genes.

Clinical significance[edit]

Heterozygous variants in SATB1 have been identified in a neurodevelopmental disorder with teeth abnormalities and epilepsy.[8]

Interactions[edit]

SATB1 has been shown to interact with:

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000182568 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023927 - 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. ^ "Entrez Gene: SATB1 SATB homeobox 1".
  6. ^ Pavan Kumar P, Purbey PK, Sinha CK, Notani D, Limaye A, Jayani RS, Galande S (April 2006). "Phosphorylation of SATB1, a global gene regulator, acts as a molecular switch regulating its transcriptional activity in vivo". Molecular Cell. 22 (2): 231–43. doi:10.1016/j.molcel.2006.03.010. PMID 16630892.
  7. ^ Galande S, Purbey PK, Notani D, Kumar PP (October 2007). "The third dimension of gene regulation: organization of dynamic chromatin loopscape by SATB1". Current Opinion in Genetics & Development. 17 (5): 408–14. doi:10.1016/j.gde.2007.08.003. PMID 17913490.
  8. ^ den Hoed J, de Boer E, Voisin N, Dingemans AJ, Guex N, Wiel L, et al. (February 2021). "Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction". American Journal of Human Genetics. 108 (2): 346–356. doi:10.1016/j.ajhg.2021.01.007. hdl:21.11116/0000-0007-623A-A. PMC 7895900. PMID 33513338.
  9. ^ a b c d e Yasui D, Miyano M, Cai S, Varga-Weisz P, Kohwi-Shigematsu T (October 2002). "SATB1 targets chromatin remodelling to regulate genes over long distances". Nature. 419 (6907): 641–5. doi:10.1038/nature01084. PMID 12374985. S2CID 25822700.
  10. ^ Liu J, Barnett A, Neufeld EJ, Dudley JP (July 1999). "Homeoproteins CDP and SATB1 interact: potential for tissue-specific regulation". Molecular and Cellular Biology. 19 (7): 4918–26. doi:10.1128/mcb.19.7.4918. PMC 84297. PMID 10373541.
  11. ^ Durrin LK, Krontiris TG (June 2002). "The thymocyte-specific MAR binding protein, SATB1, interacts in vitro with a novel variant of DNA-directed RNA polymerase II, subunit 11". Genomics. 79 (6): 809–17. doi:10.1006/geno.2002.6772. PMID 12036295.

Further reading[edit]