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Title: Smarca4  
Author: World Heritage Encyclopedia
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Subject: P53, Glucocorticoid receptor, Medulloblastoma, SWI/SNF, Estrogen receptor alpha, Beta-catenin, Myc, CREB-binding protein, STAT2
Publisher: World Heritage Encyclopedia


SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
PDB rendering based on 2grc.
Available structures
PDB Ortholog search: RCSB
RNA expression pattern

Transcription activator BRG1 also known as ATP-dependent helicase SMARCA4 is a protein that in humans is encoded by the SMARCA4 gene.[1]


The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44.[2]

BRG1 works to activate or repress transcription. Having functional BRG1 is important for development past the pre-implantation stage. Without having a functional BRG1, exhibited with knockout research, the embryo will not hatch out of the zona pellucida which will inhibit implantation from occurring on the endometrium (uterine wall). BRG1 is also crucial to the development of sperm. During the first stages of meiosis in spermatogenesis there are high levels of BRG1. When BRG1 is genetically damaged, meiosis is stopped in prophase 1, hindering the development of sperm and would result in infertility. More knockout research has concluded BRG1’s aid in the development of smooth muscle. In a BRG1 knockout, smooth muscle in the gastrointestinal tract lacks contractility, and intestines are incomplete in some cases. Another defect occurring in knocking out BRG1 in smooth muscle development is heart complications such as an open ductus arteriosus after birth.[3][4]

Clinical significance

Mutations in this gene were first recognized in human lung cancer cell lines.[5] Later is was recognized that mutations exist in a significant frequency of medulloblastoma and pancreatic cancers among other tumor subtypes.[6][7] [8]


SMARCA4 has been shown to interact with:


Further reading

External links

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