WARS1 tryptophanyl-tRNA synthetase 1
Gene ID: 7453, updated on 3-Nov-2024Gene type: protein coding
Also known as: HMN9; WARS; HMND9; IFI53; IFP53; GAMMA-2; NEDMSBA
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- Go to complete Gene record for WARS1
- Go to Variation Viewer for WARS1 variants
Summary
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
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Description | Tests |
---|---|
Charcot-Marie-Tooth disease MedGen: C0007959GeneReviews: Charcot-Marie-Tooth Hereditary Neuropathy Overview | not available |
Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities | not available |
Neuronopathy, distal hereditary motor, type 9 | not available |
Genomic context
- Location:
- 14q32.2
- Sequence:
- Chromosome: 14; NC_000014.9 (100333790..100376327, complement)
- Total number of exons:
- 15
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for WARS1 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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