IARS1 (isoleucyl-tRNA synthetase 1)

2014-11-01  

Identity

HGNC
IARS1
LOCATION
9q22.31
LOCUSID
3376
ALIAS
GRIDHH,IARS,ILERS,ILRS,IRS,PRO0785

Other Information

Locus ID:

NCBI: 3376
MIM: 600709
HGNC: 5330
Ensembl: ENSG00000196305

Variants:

dbSNP: 3376
ClinVar: 3376
TCGA: ENSG00000196305
COSMIC: IARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000196305ENST00000375627Q5TCC6
ENSG00000196305ENST00000375643P41252
ENSG00000196305ENST00000395554Q5TCD1
ENSG00000196305ENST00000430417Q5TCC9
ENSG00000196305ENST00000443024A0A0A0MSX9
ENSG00000196305ENST00000447699J3KR24
ENSG00000196305ENST00000627121Q5TCC6

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
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Selenoamino acid metabolismREACTOMER-HSA-2408522
SeMet incorporation into proteinsREACTOMER-HSA-2408517

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
274267352016Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.21
278915902017Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.7
290522182017New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.2

Citation

Dessen P

IARS1 (isoleucyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64485/iars1