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dyskerin 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. Defects in DKC1 are a cause of dyskeratosis congenita X- linked recessive (XDKC). XDKC is a rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Defects in DKC1 are the cause of Hoyeraal-Hreidarsson syndrome (HHS). HHS is a multisystem disorder affecting males and is characterized by aplastic anemia, immunodeficiency, microcephaly, cerebellar hypoplasia, and growth retardation. Belongs to the pseudouridine synthase TruB family. 2 isoforms of the human protein are produced by alternative splicing. 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: cytoplasm; fibrillar center; nucleolus; nucleoplasm; nucleus; telomerase holoenzyme complex
Molecular Function: protein binding; pseudouridine synthase activity; RNA binding; telomerase activity
Biological Process: box H/ACA snoRNA 3'-end processing; cell proliferation; positive regulation of telomerase activity; positive regulation of telomere maintenance via telomerase; RNA processing; rRNA processing; rRNA pseudouridine synthesis; snRNA pseudouridine synthesis; telomere maintenance via telomerase
Disease: Dyskeratosis Congenita, X-linked
Reference #:  O60832 (UniProtKB)
Alt. Names/Synonyms: CBF5; CBF5 homolog; cbf5p homolog; DKC; DKC1; dyskeratosis congenita 1, dyskerin; Dyskerin; FLJ97620; H/ACA ribonucleoprotein complex subunit 4; 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 or siRNAs from Cell Signaling Technology® Total Proteins
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Protein Structure Not Found.

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