dyskerin Isoform 1: 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. Required for ribosome biogenesis and telomere maintenance. 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. Belongs to the pseudouridine synthase TruB family. Ubiquitously expressed. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
Protein type: EC 5.4.99.-; Isomerase; Lyase; Nucleolus; RNA processing; RNA-binding
Chromosomal Location of Human Ortholog: Xq28
Cellular Component:  box H/ACA scaRNP complex; box H/ACA snoRNP complex; box H/ACA telomerase RNP complex; cytoplasm; fibrillar center; nucleolus; nucleoplasm; nucleus; telomerase holoenzyme complex
Molecular Function:  box H/ACA snoRNA binding; protein binding; pseudouridine synthase activity; RNA binding; telomerase activity; telomerase RNA binding
Biological Process:  enzyme-directed rRNA pseudouridine synthesis; positive regulation of establishment of protein localization to telomere; positive regulation of telomerase activity; positive regulation of telomerase RNA localization to Cajal body; positive regulation of telomere maintenance via telomerase; regulation of telomerase RNA localization to Cajal body; RNA processing; rRNA processing; rRNA pseudouridine synthesis; scaRNA localization to Cajal body; telomerase RNA stabilization; telomere maintenance via telomerase
Disease: Dyskeratosis Congenita, X-linked
Reference #:  O60832 (UniProtKB)
Alt. Names/Synonyms: CBF5; CBF5 homolog; cbf5p homolog; DKC; DKC1; DKCX; dyskeratosis congenita 1, dyskerin; Dyskerin; dyskerin pseudouridine synthase 1; FLJ97620; H/ACA ribonucleoprotein complex subunit 4; H/ACA ribonucleoprotein complex subunit DKC1; NAP57; NOLA4; Nopp140-associated protein of 57 kDa; Nucleolar protein family A member 4; Nucleolar protein NAP57; snoRNP protein DKC1; XAP101
Gene Symbols: DKC1
Molecular weight: 57,674 Da
Basal Isoelectric point: 9.46  Predict pI for various phosphorylation states
Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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