This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome.
The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants.
SMARCA2, also named as BRM, is a transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. SMARCA2 is involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene.
The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly 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 SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin.
ATP-dependent chromatin remodeling complexes play an essential role in the regulation of nuclear processes such as transcription and DNA replication and repair. The SWI/SNF chromatin remodeling complex consists of more than 10 subunits and contains a single molecule of either BRM or BRG1 as the ATPase catalytic subunit. The activity of the ATPase subunit disrupts histone-DNA contacts and changes the accessibility of crucial regulatory elements to the chromatin. The additional core and accessory subunits play a scaffolding role to maintain stability and provide surfaces for interaction with various transcription factors and chromatin. The interactions between SWI/SNF subunits and transcription factors, such as nuclear receptors, p53, Rb, BRCA1, and MyoD, facilitate recruitment of the complex to target genes for regulation of gene activation, cell growth, cell cycle, and differentiation processes.SMARCB1/BAF47, one of the core subunits of the SWI/SNF complex, is necessary for efficient nucleosome remodeling by BRG1 in vitro. SMARCB1/BAF47 is an essential part of the esBAF (mouse embryonic stem cell specific SWI/SNF complex) and is necessary for early embryogenesis and hepatocyte differentiation. In addition, SMARCB1/BAF47 is considered to be a tumor suppressor protein; inactivating mutations have been indentified in a large number of malignant rhabdoid tumors.
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology).Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by alteringDNA-histone contacts within a nucleosome in an ATP-dependent manner. BAF170 is one of the core subunits of the SWI/SNF complex,which is necessary for efficient nucleosome remodeling by Brg1 in vitro. While BAF170 has been shown to be part of the SWI/SNF complexin non-pluripotent cells, it is absent in pluripotent embryonic stem (ES) cells. Research studies have shown that expression of BAF170 is upregulated in neurons/neuronal progenitors upon differentiation of mouse ES cells with retinoic acid, and exogenous expression of BAF170leads to loss of stem cell pluripotency and self renewal.
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1(SMARCD1) is a protein that is encoded by the SMARCD1 gene in human. SMARCD1 involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA- nucleosome topology). It is a component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner.
Inserisci la tua e-mail e seleziona le aree di interesse per ricevere le ultime novità, approfondimenti e promozioni.
Seleziona uno o più ambiti di interesse per ricevere comunicazioni più utili e mirate.
2025 TEMA Ricerca - All Rights Reserved.
