SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1; integrase interactor 1 protein; SNF5 homolog; hSNF5; BRG1-associated factor 47; BAF47 (SMARCB1, BAF47, INI1, SNF5L1)

Function

• core component of the BAF complex
• stimulates in vitro remodeling activity of SMARCA4
• role in activation of CSF1 promoter
• component of the npBAF complex & the nBAF complex, involved in a switch from a neural stem/progenitord to post-mitotic neurons
• component of the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor
• plays a key role in cell-cycle control & causes cell cycle arrest in G0/G1
• phosphorylated upon DNA damage, probably by ATM or ATR
• binds to double-stranded DNA
• interacts with MYK & MAEL
• interacts with PPP1R15A

Structure

belongs to the SNF5 family

Compartment

nucleus

Alternative splicing

named isoforms=2; INI1A, INI1B

Pathology

• defects in SMARCB1 are a cause of
  • malignant rhabdoid tumor
  • schwannomatosis
• frequently inactivated in epithelioid sarcomas
• binds tightly to HIV-1 integrase in vitro & stimulates its DNA-joining activity
• interacts with human papillomavirus 18 E1 protein to stimulates its viral replication
• interacts with Epstein-Barr virus protein EBNA-2

More general terms

• SWI/SNF-related matrix-associated actin dependent regulator of chromatin subfamily B
• phosphoprotein
• nuclear protein

Component of

• SWI/SNF-A (BAF) chromatin remodeling complex
• npBAF complex (neural progenitors-specific chromatin remodeling complex)
• nBAF complex (neuron-specific chromatin remodeling complex)
• WINAC complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6598
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6598
• OMIM: https://mirror.omim.org/entry/162091
• OMIM: https://mirror.omim.org/entry/601607
• OMIM: https://mirror.omim.org/entry/609322
• UniProt: http://www.uniprot.org/uniprot/Q12824.html