2024年12月25日 · SMARCB1 (SWI/SNF Related BAF Chromatin Remodeling Complex Subunit B1) is a Protein Coding gene. Diseases associated with SMARCB1 include Coffin-Siris Syndrome 3 and Schwannomatosis 1. Among its related pathways are Gene expression (Transcription) and MITF-M-dependent gene expression.

SWI/SNF -related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene. [5][6][7] The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively.

Loss of SMARCB1 has been implicated in the initiation of cancers such as malignant rhabdoid tumor (MRT), atypical teratoid rhabdoid tumor (ATRT), and, more recently, renal medullary carcinoma (RMC). These SMARCB1-deficient tumors have remarkably stable genomes, offering unique insights into the epigenetic mechanisms in cancer biology.

2024年3月27日 · We report that the little-studied gene DDB1–CUL4-associated factor 5 (DCAF5) is required for the survival of SMARCB1 -mutant cancers. We show that DCAF5 has a quality-control function for SWI/SNF...

2023年11月10日 · smarcb1 del表明smarcb1基因缺失，导致swi/snf亚基水平降低，亚基融入染色质复合物减少(pmid: 27941797)，以及细胞培养中egfr和met通路信号的过度激活(pmid: 23576573)。

2022年7月27日 · SMARCB1 is a critical component of the BAF complex that is responsible for global chromatin remodeling. Loss of SMARCB1 has been implicated in the initiation of cancers such as malignant rhabdoid tumor (MRT), atypical teratoid rhabdoid tumor (ATRT), and, more recently, renal medullary carcinoma (RMC …

SMARCB1 Promotes Ubiquitination and Degradation of NR4A3 via Direct Interaction Driven by ROS in Vascular Endothelial Cell Injury. SMARCB1 loss interacts with neuronal differentiation state to block maturation and impact cell stability. SMARCB1 Acts as a Quiescent Gatekeeper for Cell Cycle and Immune Response in Human Cells.

The SMARCB1 gene provides instructions for making a protein that forms one piece (subunit) of several different protein groupings called SWI/SNF protein complexes. Learn about this gene and related health conditions.

SMARCB1 (also known as SNF5, INI1, and BAF47), a core subunit of the SWI/SNF (BAF) chromatin-remodeling complex, is inactivated in nearly all pediatric rhabdoid tumors. These aggressive cancers are among the most genomically stable, suggesting an epigenetic mechanism by which SMARCB1 loss drives tra …

In this review, we give a general overview of SMARCB1, its role in various cancers including germline mutations, association with genetic syndromes and role in future targeted therapies. Keywords: MALIGNANT TUMOURS, CARCINOMA, GENETICS. SMARCB1 is a ubiquitously expressed nuclear protein.