H/ACA ribonucleoprotein complex subunit 4; dyskerin; nucleolar protein family A member 4; snoRNP protein DKC1; Nopp140-associated protein of 57 kDa; nucleolar protein NAP57; CBF5 homolog (DKC1, NOLA4)
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Function
- catalytic subunit of H/ACA small nucleolar ribonucleoprotein complex (H/ACA snoRNP complex)
- required for ribosome biogenesis & telomere maintenance
- also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme
Structure
- human homolog of rat nucleolus-associated gene encoding NAP57 & yeast centromere/microtubule binding genes (CBF5)
- belongs to the pseudouridine synthase truB family
- contains 1 PUA domain
Compartment
Expression
- ubiquitously expressed
Pathology
- defects in DKC1 are a cause of X-linked dyskeratosis congenita
- defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome
More general terms
Additional terms
Component of
References
- ↑ Heiss NS et al X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics 19:32-8, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9590285
- ↑ UniProt http://www.uniprot.org/uniprot/O60832.html
- ↑ DKC1base; Note: DKC1 mutation db http://bioinf.uta.fi/DKC1base/
- ↑ Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/DKC1ID157.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/DKC1