The gene SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) is mapped to human chromosome 22q11.23. The protein is localized in the nucleus.
Synonyms: Anti-BAF47; Anti-Ini1; Anti-PPP1R144; Anti-RDT; Anti-SNF5; Anti-SNF5L1; Anti-Sfh1p; Anti-Snr1; Anti-hSNFS
Storage: -20C
Application: Applications in which this antibody has been used successfully, and the associated peer-reviewed papers, are given below.Immunohistochemistry (1 paper)
Biochem Physiol Actions: SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) is member of chromatin-remodelling SWI/SNF (SWItch/Sucrose Non-Fermentable) multiprotein complex. SMARCB1 directly interacts with other components of the complex including BRG1-associated factor 170 (BAF170) and BAF155. PIH1 domain-containing protein-1 (PIH1) interacts with histone H4 and recruits SWI/SNF complex via SMARCB1, thereby regulating chromatin remodeling at the core promoter of rRNA genes. Mutations in SMARCB1 are associated with formation of malignant rhabdoid tumors. SMARCB1 controls G1-S transition of the cell cycle. Overexpression of SMARCB1 leads to cell cycle arrest in malignant rhabdoid tumor cells. SMARCB1 germline mutations are associated with familial schwannomatosis. Similarly, SMARCB1 mutations are observed in humans with coffin-siris syndrome. SMARCB1 interacts and stimulates HIV (Human immunodeficiency virus)-1 integrase activity, catalyzing the integration of retroviral cDNA into host chromosome.
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