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UniProt AC
UniProt Status
Protein Name
Organism
PMID
Article Title
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Annotation
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Q12824ReviewedSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 Homo sapiens (Human).31759698Recurrent 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).
AnonymousAnonymous2020-1-10