DKC1 — Dyskerin pseudouridine synthase 1
DKC1 belongs to a gene co-expression module in 2 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
DKC1's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Hematopoietic progenitor cells | Ribosome Biogenesis Housekeeping | DDX21, GNL3, HNRNPAB, LRPPRC, NOLC1, NOP56, NOP58, PA2G4 +2 more | |
| Macrophages | Ubiquitin-Proteasome System Housekeeping | ACTR10, ADSS2, ATXN10, CAND1, CYRIB, DPM1, EIF4E, HSPA4 +18 more | View in SCUBA |
About the gene
| Synonyms | Cbf5, DKC, dyskerin, NAP57, NOLA4, XAP101 |
|---|---|
| Chromosome | X: 154762742-154777689 |
| Predicted location | Intracellular |
| Essential gene | Yes |
| Protein class | Disease related genes, Essential proteins, Human disease related genes, Plasma proteins, Predicted intracellular proteins |
| Molecular function | Isomerase, Ribonucleoprotein, RNA-binding |
| Biological process | Ribosome biogenesis, rRNA processing |
Function
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. Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.