General Description
INI1/SNF5, also known as SWItch/sucrose non-fermentable (SWI/SNF) related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1, is encoded by the gene mapped to human chromosome 22q11.2. This gene codes for an essential component of chromatin-remodelling SWI/SNF multiprotein complexes.
Biochem/physiol Actions
INI1/sucrose non-fermentable 5 (SNF5) plays a vital role in transcriptional activation of inducible genes through chromatin remodelling. hSNF5/INI1 interacts with the protooncogene c-Myc and the SWI complex is necessary for c-Myc mediated transactivation. hSNF5 displays properties of a tumor-suppressor gene, as sporadic rhabdoid tumors show biallelic loss-of-function mutations and germline mutations confer an autosomal-dominant syndrome that predisposes patients to a variety of rhabdoid cancers. Loss of function mutations of the gene is associated with the pathogenesis of aggressive pediatric cancer and epithelioid schwannoma. SNF5 interacts with E1 protein of human papillomavirus (HPV) and thus, enhances the efficiency of HPV DNA replication.
