NOP10 wt Allele

Preferred Label : NOP10 wt Allele;

NCIt synonyms : NOP10 Ribonucleoprotein Homolog (Yeast) Gene; Nucleolar Protein Family A, Member 3 (H/ACA Small Nucleolar RNPs) Gene; NOP10 Ribonucleoprotein wt Allele; Nucleolar Protein Family A, Member 3 Gene; NOLA3; NOP10, S. cerevisiae, Homolog of Gene; NOP10P; Homolog of Yeast Nop10p Gene; DKCB1;

NCIt definition : Human NOP10 wild-type allele is located in the vicinity of 15q14 and is approximately 1 kb in length. This allele, which encodes H/ACA ribonucleoprotein complex subunit 3 protein, is involved in both telomere maintenance and ribosome stability. Mutation of the gene is associated with autosomal recessive dyskeratosis congenita type 1.;

NCI Metathesaurus CUI : CL553299;

GenBank Accession Number : AB043103;

Details

Origin ID

C152091;

UMLS CUI

C4724053;

Automatic exact mappings (from CISMeF team)
- Dyskeratosis congenita, autosomal recessive 1 [OMIM Phenotype]
- NOP10 ribonucleoprotein [ORDO Gene]
- Nop10 ribonucleoprotein [OMIM gene]
- autosomal recessive dyskeratosis congenita 1 [DO Concept]
OMIM relation
- Nop10 ribonucleoprotein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 15q14 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline Predisposition Associated with Telomerase Biology Disorder [NCIt concept]
gene_plays_role_in_process
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Telomere Maintenance [NCIt concept]

Keyword's position in hierarchy(ies) :

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