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Gene · 1736

DKC1: dyskerin pseudouridine synthase 1

12 sourcesgene-search-2026-11-11-0.2.0

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ConductScience Library. DKC1: dyskerin pseudouridine synthase 1. Genes, record 1736. Release gene-search-2026-11-11-0.2.0, 11 Nov 2026. https://conductscience.org/library/genes/1736

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Gene

Symbol
DKC1
HGNC
Name
dyskerin pseudouridine synthase 1
HGNC
NCBI Gene ID
1736
NCBI Gene
HGNC ID
HGNC:2890
HGNC
Ensembl
ENSG00000130826
NCBI Gene
Aliases
CBF5, CHINE1, Cbf5, DKC, DKCX, NAP57, NOLA4, XAP101, dyskerin
NCBI Gene
Type
protein-coding
NCBI Gene

Proteins1

Reviewed human proteins whose Swiss-Prot entry states the gene.

UniProt entryProteinLengthStructuresGene stated in
O60832H/ACA ribonucleoprotein complex subunit DKC15147Ensembl, GeneID, HGNC

Source UniProt

Patents58

Patents whose sequence listing contains this protein's exact sequence. A patent can list a sequence without claiming it.

PublicationPublishedSEQ ID NOProteinSource
EP 4820518 A12026-10-141O60832Espacenet
JP 2026027383 A2026-02-1838O60832Espacenet
EP 4681700 A12026-01-2164O60832Espacenet
EP 4650780 A22025-11-198641O60832Espacenet
KR 1020250162845 A2025-11-1964O60832Espacenet
JP 2025517970 A2025-06-128641O60832Espacenet
JP 2025024198 A2025-02-1911852O60832Espacenet
JP 2024123008 A2024-09-105967O60832Espacenet
JP 2024519733 A2024-05-21177O60832Espacenet
JP 2024009871 A2024-01-2389O60832Espacenet

1 to 10 of 58

See all 58 patents

Drugs0

Drugs a ChEMBL mechanism record says act on the gene's protein, through Open Targets.

None in this release.

Trials0

Trials of those drugs. A trial joins the gene only through a drug that acts on it.

None in this release.

NIH grants1,325

NIH grants whose papers are about the gene, through NIH's grant-paper links.

GrantTitleDKC1 papersNewest fiscal year
ZIACP010190Genetic Epidemiology of Telomere Maintenance and Cancer Etiology312025
ZIACP010144Clinical Genetic Studies of Familial and Hereditary Cancer Syndromes172025
ZIAHL006089Telomere Diseases and Other Constitutional and Acquired Genetic Disorders of Hematopoiesis122025
P30CA006973Regional Oncology Research Center82025
P30CA016520Abramson Cancer Center Support Grant72025
P30CA016672Cancer Center Support Grant62025
R01GM101316Functions of mRNA Pseudouridylation62025
P30CA091842Cancer Center Support Grant52025
P30CA142543UT Southwestern Medical Center Simmons Comprehensive Cancer Center52025
R01DK107716Regulation and manipulation of the telomerase RNA component in hematopoiesis52025

1 to 10 of 1,325Source NIH's project files

See all 1,325 nih grants

Papers2,132

Newest first. Swiss-Prot's references are curated; PubTator's text mining finds papers that name the gene, not always ones about it.

TitleJournalYearPMIDFound bySource
A Military Veteran with Pulmonary Fibrosis, Hepatic Cirrhosis, Bone Marrow Dysfunction and Shortened Telomeres Found to Have GAVE, a Potential Unsuspected Consequence of Telomere Spectrum Disorder.J Clin Med202642795846PubTator, text miningPubMed
N-Terminal Variant p.Ala2Val in X-Linked Dyskeratosis Congenita Gene (DKC1) Disrupts Its Post-Translational Modification and Nucleolar Localization.Mol Genet Genomic Med202642592823PubTator, text miningPubMed
The potential of gene therapy to rescue telomeric and extratelomeric defects in X-linked dyskeratosis congenita.Mol Ther Adv202642564579PubTator, text miningPubMed
Integrative Genomic Analysis Reveals Pseudouridine Modification-Related Gene Signatures Associated With Prognosis and Therapeutic Response Patterns in Hepatocellular Carcinoma.Int J Genomics202642339048PubTator, text miningPubMed
Telomere biology disorders associated with childhood interstitial lung disease.Clin Exp Pediatr202642316340PubTator, text miningPubMed
Outcomes of Dyskeratosis Congenita: Results From the Canadian Inherited Marrow Failure Registry.J Pediatr Hematol Oncol202642267950PubTator, text miningPubMed
Dyskeratosis Congenita with Pigmentary Mosaicism and Hematopoietic Trisomy 9 in a Female Associated with a de novo DKC1 Variant and Markedly Skewed X Chromosome Inactivation.NPJ Genom Med202642265143PubTator, text miningPubMed
Early-Onset Mucocutaneous Findings and Isolated Progressive Thrombocytopenia in a Child With a DKC1 A353V Variant.Clin Case Rep202642256974PubTator, text miningPubMed
Epigenetic-Metabolic interplay in chronic kidney disease mortality: insights from grimage acceleration and transcriptomic profiling.Clin Epigenetics202642186049PubTator, text miningPubMed
DKC1 promotes colorectal cancer progression and therapy resistance by dysregulating sphingolipid biosynthesis.Nat Commun202642151151PubTator, text miningPubMed

1 to 10 of 2,132

See all 2,132 papers

Sources 12

  • ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
  • ChEMBL, through Open TargetsCC BY-SA 3.0
  • ClinicalTrials.govNo license stated
  • EMBL-EBI's patent proteinsNo added restrictions. Attribution expected
  • GenBank's patent filesNo restrictions from NCBI. Submitters may hold rights
  • HGNCCC0
  • NCBI GenePublic domain (US government)
  • NIH's project files and grant-paper linksPublic domain
  • Open TargetsCC0 1.0
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0
Each source's terms
  • ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
  • ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • ClinicalTrials.govnone stated
  • EMBL-EBI's patent proteinsEMBL-EBI's patent protein files from the EPO, JPO, KIPO and USPTO. EMBL-EBI: "EMBL-EBI itself places no additional restrictions on the use or redistribution of the data available via its Data Resources and Tools other than those provided by the original data owners" and "EMBL-EBI expects attribution (e.g. in publications, services or products) for the use of any of its Data Resources and Tools." Read on 11 Nov 2026 at https://www.ebi.ac.uk/about/terms-of-use
  • GenBank's patent filesGenBank's patent files. NCBI: "NCBI places no restrictions on the use or distribution of the GenBank data. However, some submitters may claim patent, copyright, or other intellectual property rights in all or a portion of the data they have submitted." Read on 11 Nov 2026 at https://www.ncbi.nlm.nih.gov/genbank/about/
  • HGNCCC0: https://www.genenames.org/about/license/
  • NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
  • NIH's project files and grant-paper linksPublic domain (NIH RePORTER)
  • Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
  • PubMedNLM's terms
  • PubTator 3Public domain
  • UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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