TARS1 wt Allele

Preferred Label : TARS1 wt Allele;

NCIt synonyms : TARS; Threonyl tRNA Synthetase, Cytoplasmic Gene; TTD7; Threonyl-tRNA Synthetase 1 wt Allele; ThrRS; Threonine tRNA Ligase 1, Cytoplasmic Gene;

NCIt definition : Human TARS1 wild-type allele is located in the vicinity of 5p13.3 and is approximately 29 kb in length. This allele, which encodes threonine-tRNA ligase 1, cytoplasmic protein, plays a role in tRNA aminoacylation. Mutation of the gene is associated with nonphotosensitive trichothiodystrophy (trichothiodystrophy 7).;

NCI Metathesaurus CUI : CL1407183;

GenBank Accession Number : AK095852;

Details

Origin ID

C173322;

UMLS CUI

C5401271;

Automatic exact mappings (from CISMeF team)
- Tars [DeCS]
- Tear [LOINC System]
- Threonyl-trna synthetase 1 [OMIM gene]
- nonphotosensitive trichothiodystrophy 7 [DO Concept]
- tars [ATC Code]
- tars [MeSH Descriptor]
- tars [MeSH concept]
- tears [MeSH Descriptor]
OMIM relation
- Threonyl-trna synthetase 1 [OMIM gene]
See also inter- (CISMeF)
- Trichothiodystrophy 7, nonphotosensitive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5p13.3 [NCIt concept]
gene_is_element_in_pathway
- Aminoacyl-tRNA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Processing [NCIt concept]
- Translation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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