DKC1

Description		dyskerin pseudouridine synthase 1
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GO Annotations	Cellular Component	Fibrillar Center Nucleus Nucleoplasm Telomerase Holoenzyme Complex Nucleolus Cytoplasm Cajal Body Box H/ACA SnoRNP Complex Box H/ACA ScaRNP Complex Box H/ACA Telomerase RNP Complex Ribonucleoprotein Complex
	Molecular Function	Telomerase Activity RNA Binding Protein Binding Pseudouridine Synthase Activity Isomerase Activity Box H/ACA SnoRNA Binding Telomerase RNA Binding
	Biological Process	Enzyme-directed RRNA Pseudouridine Synthesis Box H/ACA Sno(s)RNA 3'-end Processing Pseudouridine Synthesis RRNA Processing RNA Processing Telomere Maintenance Via Telomerase RNA Modification RRNA Pseudouridine Synthesis SnRNA Pseudouridine Synthesis Positive Regulation Of Telomere Maintenance Via Telomerase Box H/ACA Sno(s)RNA Metabolic Process Ribosome Biogenesis ScaRNA Localization To Cajal Body Telomerase RNA Stabilization Protein Localization To Cajal Body Regulation Of Telomerase RNA Localization To Cajal Body Positive Regulation Of Telomerase RNA Localization To Cajal Body Telomerase Holoenzyme Complex Assembly MRNA Pseudouridine Synthesis
Pathways		Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol
Drugs
Diseases		Hoyeraal-Hreidarsson syndrome Dyskeratosis congenita (DC), including: X-linked dyskeratosis congenita (DKCX); Autosomal dominant dyskeratosis congenita (DKCA1); Autosomal recessive dyskeratosis congenita (DKCB1)
GWAS
Interacting Genes		10 interacting genes: CSNK2A1 DAXX EEF1G EIF3F ERG LYPLA2 MAPK6 RUVBL1 SSR1 TERC
Entrez ID		1736
HPRD ID		02129
Ensembl ID		ENSG00000130826
Uniprot IDs		A0A8Q3SIY6 O60832
PDB IDs		7BGB 7TRC 7V9A 8OUE 8OUF
Enriched GO Terms of Interacting Partners?
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