RPL35A wt Allele

Preferred Label : RPL35A wt Allele;

NCIt synonyms : Cell Growth-Inhibiting Gene 33; DBA5; L35A; Ribosomal Protein L35a wt Allele; eL33;

NCIt definition : Human RPL35A wild-type allele is located in the vicinity of 3q29 and is approximately 6 kb in length. This allele, which encodes 60S ribosomal protein L35a, plays a role in promoting protein synthesis. Missense, nonsense and deletion mutations in the gene are associated with Diamond-Blackfan anemia 5.;

NCI Metathesaurus CUI : CL1643127;

GenBank Accession Number : X52966;

Details

Origin ID

C177133;

UMLS CUI

C5443951;

Automatic exact mappings (from CISMeF team)
- Diamond-Blackfan anemia 5 [MeSH Supplementary Concept]
- Diamond-Blackfan anemia 5 [DO Concept]
- Diamond-blackfan anemia 5 [OMIM Phenotype]
- ribosomal protein L35a [ORDO Gene]
OMIM relation
- Ribosomal protein l35a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3q29 [NCIt concept]
gene_is_element_in_pathway
- Ribosome Assembly Pathway [NCIt concept]
gene_plays_role_in_process
- Protein Synthesis [NCIt concept]
- RNA Binding [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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