Dyskerin

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Dyskeratosis congenita 1, dyskerin
Identifiers
Symbols DKC1 ; CBF5; DKC; DKCX; NAP57; NOLA4; XAP101
External IDs OMIM300126 HomoloGene1045 GeneCards: DKC1 Gene
RNA expression pattern
PBB GE DKC1 201479 at tn.png
PBB GE DKC1 201478 s at tn.png
PBB GE DKC1 216212 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1736 245474
Ensembl ENSG00000130826 ENSMUSG00000031403
UniProt O60832 Q9ESX5
RefSeq (mRNA) NM_001142463 NM_001030307
RefSeq (protein) NP_001135935 NP_001025478
Location (UCSC) Chr HG1497_PATCH:
153.93 – 153.95 Mb
Chr X:
75.1 – 75.11 Mb
PubMed search [1] [2]

H/ACA ribonucleoprotein complex subunit 4 is a protein that in humans is encoded by the DKC1 gene.[1][2][3]

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.[3]

Clinical significance[edit]

Mutations in DKC1 are associated to Hoyeraal-Hreidarsson syndrome .[4]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: DKC1 dyskeratosis congenita 1, dyskerin". 
  4. ^ Lim, B. C.; Yoo, S. K.; Lee, S; Shin, J. Y.; Hwang, H; Chae, J. H.; Hwang, Y. S.; Seo, J. S.; Kim, J. I.; Kim, K. J. (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.  edit

Further reading[edit]

External links[edit]