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Dyskerin

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DKC1
Identifiers
AliasesDKC1, CBF5, DKC, DKCX, NAP57, NOLA4, XAP101, Dyskerin, dyskerin pseudouridine synthase 1
External IDsOMIM: 300126; MGI: 1861727; HomoloGene: 1045; GeneCards: DKC1; OMA:DKC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr X: 74.14 – 74.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000130826Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031403Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I (May 1998). "X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions". Nat Genet. 19 (1): 32–8. doi:10.1038/ng0598-32. PMID 9590285. S2CID 205342127.
  6. ^ Hassock S, Vetrie D, Giannelli F (Mar 1999). "Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene". Genomics. 55 (1): 21–7. doi:10.1006/geno.1998.5600. PMID 9888995.
  7. ^ a b "Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin".
  8. ^ a b c Garus A, Autexier C (2021). "Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance". RNA. 27 (12): 1441–1458. doi:10.1261/rna.078953.121. PMC 8594475. PMID 34556550.
  9. ^ Lim BC, Yoo SK, Lee S, Shin JY, Hwang H, Chae JH, Hwang YS, Seo JS, Kim JI, Kim KJ (2014). "Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing". Gene. 546 (2): 425–9. doi:10.1016/j.gene.2014.06.011. PMID 24914498.

Further reading

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