Aliases for DKC1 Gene
External Ids for DKC1 Gene
Previous HGNC Symbols for DKC1 Gene
Previous GeneCards Identifiers for DKC1 Gene
This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
GeneCards Summary for DKC1 Gene
DKC1 (Dyskerin Pseudouridine Synthase 1) is a Protein Coding gene. Diseases associated with DKC1 include Dyskeratosis Congenita, X-Linked and Dyskeratosis Congenita. Among its related pathways are Regulation of Telomerase and Gene Expression. Gene Ontology (GO) annotations related to this gene include pseudouridine synthase activity.
UniProtKB/Swiss-Prot for DKC1 Gene
Isoform 1: Required for ribosome biogenesis and telomere maintenance. Probable catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to 100 pseudouridine (psi) residues, which may serve to stabilize the conformation of rRNAs. Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme.
Isoform 3: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression (when overexpressed in HeLa cells).