YARS1 (tyrosyl-tRNA synthetase 1)

2019-08-01  

Identity

HGNC
LOCATION
1p35.1
LOCUSID
ALIAS
CMTDIC,TYRRS,YARS,YRS,YTS

Other Information

Locus ID:

NCBI: 8565
MIM: 603623
HGNC: 12840
Ensembl: ENSG00000134684

Variants:

dbSNP: 8565
ClinVar: 8565
TCGA: ENSG00000134684
COSMIC: YARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134684ENST00000373477P54577
ENSG00000134684ENST00000373477A0A0S2Z4R1
ENSG00000134684ENST00000616261A0A0C4DGZ5

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Cytosolic tRNA aminoacylationREACTOMER-HSA-379716

References

Pubmed IDYearTitleCitations
164291582006Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.139
119561812002Induction of angiogenesis by a fragment of human tyrosyl-tRNA synthetase.39
261381422015Impaired protein translation in Drosophila models for Charcot-Marie-Tooth neuropathy caused by mutant tRNA synthetases.35
124279732002Crystal structure of a human aminoacyl-tRNA synthetase cytokine.34
195612932009Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.34
252842232014Oxidative stress diverts tRNA synthetase to nucleus for protection against DNA damage.22
222910162012tRNA-controlled nuclear import of a human tRNA synthetase.21
243545242014Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.21
180965012007Gain-of-function mutational activation of human tRNA synthetase procytokine.18
217326322011Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase.17

Citation

Dessen P

YARS1 (tyrosyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58124/yars1