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
389587152024Circular RNA IARS modulates the progression and ferroptosis of osteosarcoma via sponging miR-188-5p from RAB14.0
389587152024Circular RNA IARS modulates the progression and ferroptosis of osteosarcoma via sponging miR-188-5p from RAB14.0
278915902017Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.18
290522182017New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.7
278915902017Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.18
290522182017New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.7
274267352016Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.41
274267352016Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.41
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

IARS1 (isoleucyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64485/meetings/cancer-prone-explorer/