POT1

Description

The POT1 (protection of telomeres 1) is a protein-coding gene located on chromosome 7.

POT1, also known as Protection of telomeres protein 1, is a protein involved in telomere maintenance. It is encoded by the POT1 gene and is a member of the telombin family. POT1 functions as part of the shelterin complex, which binds to telomeres, regulating telomere length and protecting chromosome ends. The absence of POT1 leads to telomere dysfunction, and it plays a role in regulating telomerase activity. Increased expression of POT1 is associated with stomach carcinogenesis.

POT1, also known as protection of telomeres protein 1, is a crucial component of the telomerase ribonucleoprotein (RNP) complex, essential for the replication of chromosome ends. It participates in the double-stranded telomeric DNA-binding TRF1 complex, which regulates telomere length through cis-inhibition of telomerase. As a single-stranded telomeric DNA-binding protein, POT1 may act as a downstream effector of the TRF1 complex, transmitting information about telomere maintenance and length to the telomere terminus. POT1 is also a component of the shelterin complex (telosome), responsible for telomere length regulation and protection. Shelterin binds to double-stranded TTAGGG repeats added by telomerase, shielding chromosome ends from DNA damage surveillance and preventing inappropriate processing by DNA repair pathways. POT1 specifically binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and displays high affinity for the minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. It can bind telomeric single-stranded sequences internally or near the 3'-end. POT1's activity is dependent on TERT, but it does not directly enhance TERT activity. However, the ACD-POT1 heterodimer increases telomerase processivity, leading to telomere elongation.

POT1 is also known as CMM10, CRMCC3, GLM9, HPOT1, PFBMFT8, TPDS3.

Associated Diseases

WES Whole Exome Sequencing