background:
This gene encodes a protein that is involved in telomerefunction. This protein is one of six core proteins in thetelosome/shelterin telomeric complex, which functions to maintaintelomere length and to protect telomere ends. Through itsinteraction with other components, this protein plays a key role inthe assembly and stabilization of this complex, and it mediates theaccess of telomerase to the telomere. Multiple transcript variantsencoding different isoforms have been found for this gene. Thisgene, which is also referred to as TPP1, is distinct from theunrelated TPP1 gene on chromosome 11, which encodestripeptidyl-peptidase I.
Function:
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. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomer elongation by increasing telomerase processivity. Plays a role in shelterin complex assembly. May play a role in organogenesis.
Subunit:
Component of the shelterin complex (telosome) composed ofTERF1, TERF2, TINF2, TERF2IP ACD and POT1. Forms heterodimers withPOT1. Identified in a complex with POT1 and single-strandedtelomeric DNA. Interacts with STN1/OSFC1 and TINF2.
Subcellular Location:
Nucleus. Chromosome, telomere.
Database links:
UniProtKB/Swiss-Prot: Q96AP0.3
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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