HARS1 wt Allele

Preferred Label : HARS1 wt Allele;

NCIt synonyms : Histidine tRNA Ligase 1, Cytoplasmic Gene; CMT2W; USH3B; HARS; Histidyl-tRNA Synthetase Gene; Jo-1 Antigen Gene; Usher Syndrome 3B Gene; HRS; Histidyl-tRNA Synthetase 1 wt Allele; Histidine Translase Gene;

NCIt definition : Human HARS1 wild-type allele is located in the vicinity of 5q31.3 and is approximately 19 kb in length. This allele, which encodes histidine-tRNA ligase, cytoplasmic protein, is involved in tRNA aminoacylation. Mutation of the gene is associated with axonal Charcot-Marie-Tooth disease type 2W and Usher syndrome type 3B.;

NCI Metathesaurus CUI : CL1771892;

GenBank Accession Number : AK000498;

Details

Origin ID

C183517;

UMLS CUI

C5575450;

Automatic exact mappings (from CISMeF team)
- Charcot-Marie-Tooth disease, axonal type 2W [DO Concept]
- Charcot-marie-tooth disease, axonal, type 2w [OMIM Phenotype]
- Dentatorubral-pallidoluysian atrophy [OMIM Phenotype]
- Harness (physical object) [SNOMED CT concept]
- Histidyl-trna synthetase 1 [OMIM gene]
- Human growth factor-regulated tyrosine kinase substrate [OMIM gene]
- Usher syndrome type 3B [DO Concept]
- Usher syndrome, type iiib [OMIM Phenotype]
OMIM relation
- Histidyl-trna synthetase 1 [OMIM gene]
See also inter- (CISMeF)
- Autosomal dominant Charcot-Marie-Tooth disease type 2W [ORDO Disease]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q31.3 [NCIt concept]
gene_is_element_in_pathway
- Aminoacyl-tRNA Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- RNA Processing [NCIt concept]
- Translational Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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