Dyskerin

DKC1
Identifiers
Aliases	DKC1, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, Dyskerin, dyskerin pseudouridine synthase 1
External IDs	OMIM: 300126; MGI: 1861727; HomoloGene: 1045; GeneCards: DKC1; OMA:DKC1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	154,777,689 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	74,153,383 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; sural nerve; ; gingival epithelium; ; hair follicle; ; tibia; ; tendon of biceps brachii; ; pancreatic ductal cell; ; Achilles tendon; ; epithelium of nasopharynx; ; cartilage tissue;
	Top expressed in
	hand; ; tail of embryo; ; primitive streak; ; otic vesicle; ; epiblast; ; zygote; ; genital tubercle; ; secondary oocyte; ; embryo; ; abdominal wall;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	telomerase activity; pseudouridine synthase activity; isomerase activity; box H/ACA snoRNA binding; protein binding; telomerase RNA binding; RNA binding;
Cellular component	cytoplasm; Cajal body; box H/ACA telomerase RNP complex; box H/ACA scaRNP complex; telomerase holoenzyme complex; box H/ACA snoRNP complex; nucleus; fibrillar center; nucleoplasm; nucleolus;
Biological process	pseudouridine synthesis; RNA processing; ribosome biogenesis; positive regulation of establishment of protein localization to telomere; telomerase RNA stabilization; box H/ACA RNA metabolic process; positive regulation of telomere maintenance via telomerase; snRNA pseudouridine synthesis; positive regulation of telomerase activity; positive regulation of telomerase RNA localization to Cajal body; rRNA processing; RNA modification; cell population proliferation; mRNA pseudouridine synthesis; box H/ACA RNA 3'-end processing; rRNA pseudouridine synthesis; telomere maintenance via telomerase; regulation of telomerase RNA localization to Cajal body;
	Sources:Amigo / QuickGO
Orthologs
	1736
	245474
	ENSG00000130826
	ENSMUSG00000031403
	O60832
	Q9ESX5
	NM_001142463; NM_001288747; NM_001363
	NM_001030307; NM_001359411; NM_001359412; NM_001359413
	NP_001135935; NP_001275676; NP_001354
	NP_001025478; NP_001346340; NP_001346341; NP_001346342
	Wikidata
View/Edit Human	View/Edit Mouse

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene. The encoded protein, known as dyskerin, is a highly conserved nucleolar enzyme that plays key roles in rRNA modification, telomerase function, and ribosome biogenesis.