UniProt AC | UniProt Status | Protein Name | Organism | PMID | Article Title | Category | Annotation | Contributor | ORCID | Submission Date | |
Q12824 | Reviewed | SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 | Homo sapiens (Human). | 31759698 | Recurrent SMARCB1 Mutations Reveal a Nucleosome Acidic Patch Interaction Site That Potentiates mSWI/SNF Complex Chromatin Remodeling. | [Function][Subcellular location][Pathology & Biotech][Expression][Interaction][Structure] | Function: The SMARCB1 C-terminus binds nucleosomes, the primary functional unit of eukaryotic genomic organization. The C-terminal domain (CTD) of SMARCB1 contains a positively charged alpha helix that interacts with nucleosomes to mediate mSWI/SNF (BAF) complex chromatin remodeling activity. This interaction is evolutionarily conserved through yeast. Single amino acid mutations identified in the neurodevelopmental disorder Coffin-Siris Syndrome disrupt this interaction in vitro. Disease: Coffin-Siris Syndrome. Additional Annotation: The CTD forms a positively charged alpha helix spanning amino acids 357-377 (PDB ID: 6UCH, this study). | Anonymous | Anonymous | 2020-1-10 |