SWI/SNF related BAF chromatin remodeling complex subunit E1
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A SMARCE1 gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Normal function
A SMARCE1 gene provides instructions for making a protein that forms one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is lower than when DNA is loosely packed.
Through their ability to regulate gene activity, SWI/SNF complexes are involved in many processes, including repairing damaged DNA; copying (replicating) DNA; and controlling the growth, division, and maturation (differentiation) of cells.
The role of the SMARCE1 protein within the SWI/SNF complex is not completely understood.
Conditions referring to this gene or chromosome
Other names
BAF57
BRG1-associated factor 57
chromatin remodeling complex BRG1-associated factor 57
SMCE1_HUMAN
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin e1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1
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Leitura adicional e referências
- SWI/SNF related BAF chromatin remodeling complex subunit E1; MedlinePlus, National Library of Medicine.
- Hah N, Kolkman A, Ruhl DD, Pijnappel WW, Heck AJ, Timmers HT, Kraus WL. A role for BAF57 in cell cycle-dependent transcriptional regulation by the SWI/SNF chromatin remodeling complex. Cancer Res. 2010 Jun 1;70(11):4402-11. doi: 10.1158/0008-5472.CAN-09-2767. Epub 2010 May 11.
- Santen GW, Kriek M, van Attikum H. SWI/SNF complex in disorder: SWItching from malignancies to intellectual disability. Epigenetics. 2012 Nov;7(11):1219-24. doi: 10.4161/epi.22299. Epub 2012 Sep 25.
- Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N. Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome. Nat Genet. 2012 Mar 18;44(4):376-8. doi: 10.1038/ng.2219.
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