RPL5 wt Allele

Preferred Label : RPL5 wt Allele;

NCIt synonyms : Ribosomal Protein L5 wt Allele; DBA6; L5; MSTP030; Protein Phosphatase 1, Regulatory Subunit 135 Gene; uL18; PPP1R135;

NCIt definition : Human RPL5 wild-type allele is located in the vicinity of 1p22.1 and is approximately 10 kb in length. This allele, which encodes 60S ribosomal protein L5, is involved in the formation of the 60S ribosome. Mutation of the gene is associated with Diamond-Blackfan anemia 6.;

GenBank Accession Number : U14966;

Details

Origin ID

C107653;

UMLS CUI

C3813714;

Automatic exact mappings (from CISMeF team)
- Diamond-Blackfan anemia 6 [DO Concept]
- Diamond-blackfan anemia 6 [OMIM Phenotype]
- Kinocilin [OMIM gene]
- ribosomal protein L5 [ORDO Gene]
OMIM relation
- Ribosomal protein l5 [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
- 1p22.1 [NCIt concept]
gene_is_element_in_pathway
- Ribosome Assembly Pathway [NCIt concept]
- p53 Pathway for Transcriptional Regulation [NCIt concept]
gene_plays_role_in_process
- Protein Synthesis [NCIt concept]
- RNA Binding [NCIt concept]
- RNA Processing [NCIt concept]
- Translation Initiation [NCIt concept]
- Translation Process [NCIt concept]
- Translational Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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