RPS19 wt Allele

Preferred Label : RPS19 wt Allele;

NCIt synonyms : Ribosomal Protein S19 wt Allele; DBA; DBA1; Diamond-Blackfan Anemia Gene; S19; eS19; Loss of Heterozygosity on Chromosome 19, Region 1 Gene; LOH19CR1;

NCIt definition : Human RPS19 wild-type allele is located in the vicinity of 19q13.2 and is approximately 11 kb in length. This allele, which encodes 40S ribosomal protein S19, may play a role in both erythrocyte differentiation and protein synthesis. Mutations that result in the expression of a truncated gene are associated with Diamond-Blackfan anemia. Aberrant elevated expression of this gene is associated with some colon carcinomas.;

NCIt note : Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. The RPS19 gene encodes a ribosomal protein that is a component of the 40S subunit. (Entrez Gene);

GenBank Accession Number : NM_001022;

Détails

Origin ID

C53162;

UMLS CUI

C1706158;

OMIM relation
- Ribosomal protein s19 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 19q13.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Diamond-Blackfan Anemia 1 [NCIt concept]
gene_is_element_in_pathway
- Ribosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Erythropoiesis [NCIt concept]
- Protein Synthesis [NCIt concept]
- Translation Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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