Dyskerin

"DKC1" redirects here. For the 1994 video game, see Donkey Kong Country.

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the gene DKC1.^[5][6][7]

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)[1] Band Xq28 Start 154,762,742 bp[1] End 154,777,689 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X A7.3 Start 74,139,460 bp[2] End 74,153,383 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 1736 245474 Ensembl ENSG00000130826 ENSMUSG00000031403 UniProt O60832 Q9ESX5 RefSeq (mRNA) NM_001142463 NM_001288747 NM_001363 NM_001030307 NM_001359411 NM_001359412 NM_001359413 RefSeq (protein) NP_001135935 NP_001275676 NP_001354 NP_001025478 NP_001346340 NP_001346341 NP_001346342 Location (UCSC) Chr X: 154.76 – 154.78 Mb Chr X: 74.14 – 74.15 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Dyskerin is a pseudouridine synthase enzyme which is part of the TruB family of enzymes.^[8] Dyskerin is an L-shaped protein of 514 residues and a molecular weight of about 58 kilo-daltons.^[8] Dyskerin is essential for the activity of telomerase by accumulating telomerase RNA component (TERC).^[8]

This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also include the NOLA1, 2 and 3 proteins. The protein encoded by this gene and the three NOLA proteins localize to the dense fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA pseudouridylation are impaired if any one of the four proteins is depleted. The protein encoded by this gene is related to the Saccharomyces cerevisiae Cbf5p and Drosophila melanogaster Nop60B proteins. The gene lies in a tail-to-tail orientation with the palmitoylated erythrocyte membrane protein (MPP1) gene and is transcribed in a telomere to centromere direction. Both nucleotide substitutions and single trinucleotide repeat polymorphisms have been found in this gene. Mutations in this gene cause X-linked dyskeratosis congenita.^[7]

Clinical significance

Mutations in DKC1 are associated to Hoyeraal-Hreidarsson syndrome.^[9]