ATPF1 binding site, a positive cis-acting regulatory element of the mammalian ATP synthase alpha-subunit gene.

Abstract An analysis of the promoter of a bovine and human nuclear-encoded mitochondrial ATP synthase alpha-subunit gene (ATPA) revealed the presence of a positive control element. DNase I footprinting and electrophoretic mobility shift assays demonstrated that this cis-acting regulatory element contains a binding site for a protein present in human HeLa nuclei, termed ATP factor 1 (ATPF1). The ATPF1 binding site contains the sequence, CANNTG, a sequence identical to the recognition site for a family of transcription factors containing a basic region adjacent to a helix-loop-helix domain. Site-directed point mutations of the basic helix-loop-helix binding site demonstrated the critical role of this element for both binding of ATPF1 and also for transcriptional activation of the ATPA gene.