Dyskerin

Alternative Names

DKC1
NOPP140-Associated Protein, 57-Kd
NAP57

Length

14,826 bases

No. of Exons

No. of isoforms

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

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001363.5:c.5C>T	United Arab Emirates	NC_000023.11:g.154762970C>T	Likely Pathogenic	Pathogenic	Dyskeratosis Congenita, X-linked	NG_009780.1:g.5215C>T; NM_001363.5:c.5C>T; NP_001354.1:p.Ala2Val	121912303	38951

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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.

External Links

https://medlineplus.gov/genetics/gene/dkc1/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=dkc1

Contributors

Pratibha Nair: 02.06.2013
Ghazi O. Tadmouri: 08.05.2005

Edit History

Sayeeda Hana: 03.08.2022
Sayeeda Hana: 12.07.2022
Pratibha Nair: 01.07.2013
Pratibha Nair: 23.10.2008

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