Aliases for POT1 Gene
External Ids for POT1 Gene
Previous GeneCards Identifiers for POT1 Gene
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
GeneCards Summary for POT1 Gene
POT1 (Protection Of Telomeres 1) is a Protein Coding gene. Diseases associated with POT1 include pot1-related susceptibility to cutaneous malignant melanoma and melanoma, cutaneous malignant 10. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Cell Cycle, Mitotic. GO annotations related to this gene include telomerase inhibitor activity and single-stranded telomeric DNA binding.
UniProtKB/Swiss-Prot for POT1 Gene
Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. 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. 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. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. 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. Binds telomeric single-stranded sequences internally or at proximity of a 3-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity.