The human UPF0016 ortholog TMEM165 shows transport activity towards Ca2+ and Mn2+ ions - Poster
(2018) 36th Smyte - Small Meeting on Yeast Transport and Energetics — Location: Martina Franca, ITALY (6.September.2018)
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- Congenital Disorders of Glycosylation (CDG) comprise a group of rare inborn human diseases caused by defects in protein glycosylation. Recently, a subtype of CDG has been associated with mutations within the human protein TMEM165 (1). This protein belongs to a family of poorly characterized membrane proteins (UPF0016) which is highly conserved through evolution and widely distributed among kingdoms (2). Recent results indicate that the UPF0016 proteins play a role in calcium, manganese and pH homeostasis. We have shown the S. cerevisiae UPF0016 member, Gdt1p, to be localized at the Golgi membrane, and to act as calcium and manganese transporter (3, 4). However, no direct transport of calcium and/or manganese by the human ortholog TMEM165 has been reported so far. The codon-optimized synthetic gene was expressed in L. lactis and by in vivo transport assays using the fluorescent dye Fura-2 we studied the calcium and manganese transport activity of TMEM165. Additionally, we performed site-directed mutagenesis in order to introduce the specific mutations detected in TMEM165-CDG patients and we tested whether this mutations directly affects the transport activity. Altogether, a better understanding of the enzymatic activities, physiological role and structural aspects of the UPF0016 members will enable a better comprehension of the causal link between the development of CDG and the presence of mutations in the human gene TMEM165
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Stribny, J., Thines, L., Deschamps, A., & Morsomme, P. (2018). The human UPF0016 ortholog TMEM165 shows transport activity towards Ca2+ and Mn2+ ions - Poster. 36th Smyte - Small Meeting on Yeast Transport and Energetics, Martina Franca, ITALY. https://hdl.handle.net/2078.5/127790