H/ACA Ribonucleoprotein Complex Subunit 4

Preferred Label : H/ACA Ribonucleoprotein Complex Subunit 4;

NCIt synonyms : Nucleolar Protein Family A Member 4; SnoRNP Protein DKC1; EC 5.4.99.-; Nopp140-Associated Protein of 57 kDa; Cbf5p Homolog; Dyskerin; Nucleolar Protein NAP57; NOPP140-Associated Protein, 57-kD; CBF5 Homolog; DKC1;

NCIt definition : H/ACA ribonucleoprotein complex subunit 4 (514 aa, 58 kDa) is encoded by the human DKC1 gene. This protein is involved in telomerase stabilization and maintenance and the processing of ribosomal RNA.;

Details

Origin ID

C113621;

UMLS CUI

C3811106;

Automatic exact mappings (from CISMeF team)
- Dyskerin [OMIM gene]
- dyskerin pseudouridine synthase 1 [ORDO Gene]
- dyskerin pseudouridine synthase 1 [HGNC gene]
OMIM relation
- Dyskerin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- DKC1 Gene [NCIt concept]
- Enzyme Gene [NCIt concept]
- Isomerase Gene [NCIt concept]
- Ligand Binding Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleolus [NCIt concept]
gene_product_has_structural_domain_or_motif
- Ligand Binding Domain [NCIt concept]
- Substrate Interaction Domain [NCIt concept]
gene_product_is_element_in_pathway
- Telomerase Regulation Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- Ligand Binding [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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