RNA chaperone that plays a key role in telomere maintenance and RNA localization to Cajal bodies (, ). Specifically recognizes and binds the Cajal body box (CAB box) present in both small Cajal body RNAs (scaRNAs) and telomerase RNA template component (TERC) ( , ). Essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex essential for the replication of chromosome termini that elongates telomeres in most eukaryotes ( , ). In the telomerase holoenzyme complex, required to stimulate the catalytic activity of the complex (, ). Acts by specifically binding the CAB box of the TERC RNA and controlling the folding of the CR4/CR5 region of the TERC RNA, a critical step for telomerase activity . In addition, also controls telomerase holoenzyme complex localization to Cajal body . During S phase, required for delivery of TERC to telomeres during S phase and for telomerase activity . In addition to its role in telomere maintenance, also required for Cajal body formation, probably by mediating localization of scaRNAs to Cajal bodies (, ). Also plays a role in DNA repair: phosphorylated by ATM in response to DNA damage and relocalizes to sites of DNA double-strand breaks to promote the repair of DNA double-strand breaks (, ). Acts by recruiting the ubiquitin ligase RNF8 to DNA breaks and promote both homologous recombination (HR) and non-homologous end joining (NHEJ) (, ).
Subcellular locations: Nucleus, Cajal body, Chromosome, Telomere, Chromosome
Released from telomerase RNA template component (TERC) in mitotic cells coincident with delocalization from Cajal bodies . In response to DNA damage, localizes to sites of DNA double-strand breaks following phosphorylation by ATM (, ).
Expressed in all tissues and cell lines examined.