Human WFS1 Antibody (1057230)

WFS1 (Wolframin Syndrome gene 1; also Wolframin) is a 100-105 kDa intracellular glycoprotein that contains an unusual eleven transmembrane (TM) topology. It is widely expressed, being found in neurons, fibroblasts, hepatocytes, stratified squamous epithelium and pancreatic beta -cells. WFS1 is found in the ER and select secretory vesicles. It is known to be induced by ER stress, which prompts it to increase Ca⁺⁺ in the ER, a condition necessary for proper protein folding. It also contributes to the maintenance of the proper pH in insulin-containing granules. Human WSF1 is 890 amino acids (aa) in length. It is a type II 11-TM protein that possesses a cytoplasmic N-terminus (aa 1-313) and transmembrane-embedded C-terminus (aa 870-890). WSF1 is reported to form homodimers and homotetramers. There are multiple mutations in the WFS1 gene that contribute to Wolfram syndrome. Among these are an isoform that generates a premature truncation at Ser157, a second isoform that possesses a seven aa substitution for aa 509-890, and a third isoform which shows a deletion of aa 508-512. Over aa 679-783, human WFS1 shares 95% aa sequence identity with mouse WFS1.