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Beschreibung

Protection of telomeres protein 1 (UniProt: Q9NUX5, also known as hPot1, POT1-like telomere end-binding protein) is encoded by the POT1 gene (Gene ID: 25913) in human. POT1 is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. As a component of the shelterin complex, it is involved in the regulation of telomere length and protection. It also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. It binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Its DNA binding domains are localized to amino acids 33-48 and 270-273. POT1 contains two copies of oligonucleotide oligosaccharide-binding fold (OB-fold) domains in its N-terminal half that are responsible for single strand DNA binding activity. TPP1, a shelterin component, plays critical role in chromosome end protection and telomere length regulation and POT1 is shown to negatively regulate TPP1 phosphorylation at serine Ser255 by NIMA Related Kinase 6 (NEK6). (Ref.: Hirai, Y., et al. (2016). Genes Cells 21(8), 874-889, Hirai, Y., et al. (2012). Genes Cells. 17(3), 186-204).