ATF6 Antibody – Mouse Monoclonal

This gene encodes a transcription factor that activates target genes for the unfolded protein response (UPR) during endoplasmic reticulum (ER) stress. Although it is a transcription factor, this protein is unusual in that it is synthesized as a transmembrane protein that is embedded in the ER. It functions as an ER stress sensor/transducer, and following ER stress-induced proteolysis, it functions as a nuclear transcription factor via a cis-acting ER stress response element (ERSE) that is present in the promoters of genes encoding ER chaperones. This protein has been identified as a survival factor for quiescent but not proliferative squamous carcinoma cells. There have been conflicting reports about the association of polymorphisms in this gene with diabetes in different populations, but another polymorphism has been associated with increased plasma cholesterol levels. This gene is also thought to be a potential therapeutic target for cystic fibrosis. [provided by RefSeq, Aug 2011]

ATF6A: Transcription factor that acts during endoplasmic reticulum stress by activating unfolded protein response target genes. Binds DNA on the 5'-CCAC[GA]-3'half of the ER stress response element (ERSE) (5'-CCAAT-N(9)-CCAC[GA]-3') and of ERSE II (5'-ATTGG-N-CCACG-3'). Binding to ERSE requires binding of NF-Y to ERSE. Could also be involved in activation of transcription by the serum response factor. Belongs to the bZIP family. ATF subfamily.

Protein type: Transcription factor; Membrane protein, integral

Chromosomal Location of Human Ortholog: 1q23.3

Cellular Component: Golgi membrane; nucleoplasm; Golgi apparatus; endoplasmic reticulum membrane; membrane; endoplasmic reticulum; integral to endoplasmic reticulum membrane; nuclear envelope; nucleus

Molecular Function: protein binding; protein heterodimerization activity; transcription coactivator activity; transcription factor activity

Biological Process: regulation of transcription from RNA polymerase II promoter; unfolded protein response, activation of signaling protein activity; cellular protein metabolic process; transcription, DNA-dependent; protein folding; unfolded protein response; positive regulation of transcription of target genes involved in unfolded protein response; response to stress; signal transduction

Disease: Achromatopsia 7