Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Gene Ontology annotation based on curation of intracellular localizations of expressed fusion proteins in living cells
Automatic Gene Ontology annotation based on Rhea mapping
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Dyskerin localizes to the nucleolus and its mislocalization is unlikely to play a role in the pathogenesis of dyskeratosis congenita.
A telomerase component is defective in the human disease dyskeratosis congenita.
Differential regulation of telomerase activity by six telomerase subunits.
hNaf1 is required for accumulation of human box H/ACA snoRNPs, scaRNPs, and telomerase.
Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells.
Purification of human telomerase complexes identifies factors involved in telomerase biogenesis and telomere length regulation.
Identification of ATPases pontin and reptin as telomerase components essential for holoenzyme assembly.
A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis.
SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs.
Specificity and stoichiometry of subunit interactions in the human telomerase holoenzyme assembled in vivo.
A new human dyskerin isoform with cytoplasmic localization.
The DEAH-box RNA helicase RHAU binds an intramolecular RNA G-quadruplex in TERC and associates with telomerase holoenzyme.
An enhanced H/ACA RNP assembly mechanism for human telomerase RNA.
Insights into RNA biology from an atlas of mammalian mRNA-binding proteins.
HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment.
Host factors that interact with the pestivirus N-terminal protease, Npro, are components of the ribonucleoprotein complex.
Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.
Proteostatic control of telomerase function through TRiC-mediated folding of TCAB1.
A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
Inhibition of telomerase RNA decay rescues telomerase deficiency caused by dyskerin or PARN defects.
Architecture of the human interactome defines protein communities and disease networks.
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita.
Cryo-EM structure of substrate-bound human telomerase holoenzyme.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
OpenCell: Endogenous tagging for the cartography of human cellular organization.
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
Elongation Of The Telomeric Chromosome End
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The curated event adds nucleotides to the telomeric DNA end using the TERC template. Its bound telomerase input, output and catalytic complex contain DKC1 2–514; TERT supplies DNA synthesis, while dyskerin is an RNA-associated structural subunit.
Recruitment of Telomerase RNP to the Telomeric Chromosome End
Alignment Of The RNA Template On The Telomeric Chromosome End
Disassociation of Telomerase RNP and the Chromosome End
Biogenesis and assembly of the telomerase RNP
Elongation of Extended Telomeric Chromosome End
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The curated subsequent-extension event contains DKC1 2–514 in chromosome-bound telomerase input, product and catalytic complexes in nucleoplasm. This is continued RNP membership; TERT, not dyskerin, performs nucleotide polymerization.
Translocation Of Telomerase RNP And Alignment Of RNA Template (TERC) To Extended Single Stranded Telomeric Chromosome-End
Box H/ACA snoRNP transforms uridine to pseudouridine in pre-rRNA
Conserved composition of mammalian box H/ACA and box C/D small nucleolar ribonucleoprotein particles and their interaction with the common factor Nopp140.
Immunopurified small nucleolar ribonucleoprotein particles pseudouridylate rRNA independently of their association with phosphorylated Nopp140.
Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing.
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In murine embryonic stem cells, A353V but not G402E destabilizes telomerase RNA and reduces telomerase activity; both mutations impair pseudouridylation, reduce subsets of H/ACA snoRNAs and modestly slow pre-rRNA processing.
Pseudouridylation of yeast U2 snRNA is catalyzed by either an RNA-guided or RNA-independent mechanism.
The cotranscriptional assembly of snoRNPs controls the biosynthesis of H/ACA snoRNAs in Saccharomyces cerevisiae.
U2 snRNA is inducibly pseudouridylated at novel sites by Pus7p and snR81 RNP.
Reconstitution and structural analysis of the yeast box H/ACA RNA-guided pseudouridine synthase.
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Recombinant Saccharomyces cerevisiae Cbf5, Nop10, Gar1 and Nhp2 with H/ACA RNA reconstitute functional guide-dependent pseudouridylation; a Cbf5–Nop10–Gar1 structure and functional analysis distinguish assembly and substrate-turnover roles.
Slow growth and unstable ribosomal RNA lacking pseudouridine in mouse embryonic fibroblast cells expressing catalytically inactive dyskerin.
Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells.
The box H + ACA snoRNAs carry Cbf5p, the putative rRNA pseudouridine synthase.
DKC1 primary-source locators