dyskerin pseudouridine synthase 1

Summary
Gene Symbol
  • DKC1
Organism
Homo sapiens (human)
NCBI Gene
1736
PubChem
1736
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Acetylation
  • Alternative splicing
  • Cataract
  • Cytoplasm
  • Deafness
  • Direct protein sequencing
  • Disease variant
  • Dyskeratosis congenita
  • Isomerase
  • Isopeptide bond
  • Nucleus
  • Phosphoprotein
  • Proteomics identification
  • RNA-binding
  • Reference proteome
  • Ribonucleoprotein
  • Ribosome biogenesis
  • Ubl conjugation
  • rRNA processing
Proteins
Displaying all 2 entries
UniProt Protein Name
A0A8Q3SIY6
  • Dyskerin
O60832
  • CBF5 homolog
  • Dyskerin
  • Nopp140-associated protein of 57 kDa
  • Nucleolar protein NAP57
  • Nucleolar protein family A member 4
  • snoRNP protein DKC1
Gene Ontology (GO)
GO Hierarchy
Disease
Disease Ontology
Displaying all 3 entries
DO ID Disease Name Source
DOID:0070025 X-linked dyskeratosis congenita
DOID:12449 aplastic anemia
DOID:2729 dyskeratosis congenita

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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