Dyskerin

Alternative Names

  • DKC1
  • NOPP140-Associated Protein, 57-Kd
  • NAP57
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OMIM Number

300126

NCBI Gene ID

1736

Uniprot ID

O60832

Length

14,826 bases

No. of Exons

14

No. of isoforms

2

Protein Name

H/ACA ribonucleoprotein complex subunit DKC1

Molecular Mass

57674 Da

Amino Acid Count

514

Genomic Location

chrX:154,762,864-154,777,689

Gene Map Locus
Xq28

Description

By analogy to the predicted functions of the orthologues in other species, dyskerin is likely to be a multifunctional nucleolar protein involved in centromere function, nucleocytoplasmic trafficking, rRNA transcription, the stability of H/ACA class of small nucleolar RNAs (snoRNAs) important in guiding the conversion of uracil to pseudouracil in ribosomal RNA (RNA pseudouridylation), and ribosome biosynthesis. It also associates with the RNA component of telomerase (hTR), important in the maintenance of telomeres. Homologous proteins identified in other species include rat Nap57, Saccharomyces cerevisiae Cbf5p, Drosophila melanogaster Nop60B, and Kluyveromyces lactis Cbf5p. Dyskerin also has regions of homology with the class of bacterial Trub proteins and the S. cerevisiae PUS4 protein.

Molecular Genetics

The DKC1 gene consists of 15 exons and spans ~15 kb within the distal end of Xq28. It is transcribed into a ~2.5 kb mRNA, and translated into a 514-amino acid protein, dyskerin, which is highly conserved in evolution.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001363.5:c.5C>TUnited Arab EmiratesNC_000023.11:g.154762970C>TLikely PathogenicPathogenicDyskeratosis Congenita, X-linkedNG_009780.1:g.5215C>T; NM_001363.5:c.5C>T; NP_001354.1:p.Ala2Val12191230338951

Other Reports

Egypt

Safa et al. (2001) reported a 40 year old Egyptian man with pulmonary disease and his symptom free 35 year old brother both presented with mucocutaneous lesions characteristic of dyskeratosis congenita. Both had a novel missense mutation 5C-->T in exon 1 of the DKC1 gene. Safa et al. (2001) concluded that pulmonary disease in dyskeratosis congenita may be underestimated, possibly because most patients die at an early age of bone marrow failure. No relationship between genotype and phenotype could be established in the patients studied.

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