KARS1 (lysyl-tRNA synthetase 1)

2019-08-01  

Identity

HGNC
LOCATION
16q23.1
LOCUSID
ALIAS
CMTRIB,DEAPLE,DFNB89,KARS,KARS2,KRS,LEPID

Other Information

Locus ID:

NCBI: 3735
MIM: 601421
HGNC: 6215
Ensembl: ENSG00000065427

Variants:

dbSNP: 3735
ClinVar: 3735
TCGA: ENSG00000065427
COSMIC: KARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000065427ENST00000302445Q15046
ENSG00000065427ENST00000319410Q15046
ENSG00000065427ENST00000562875H3BRC9
ENSG00000065427ENST00000564578H3BQK5
ENSG00000065427ENST00000566249H3BSN6
ENSG00000065427ENST00000566772H3BPV7
ENSG00000065427ENST00000568378H3BMR9
ENSG00000065427ENST00000568682J3KRL2
ENSG00000065427ENST00000570215H3BVA8

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
Mitochondrial tRNA aminoacylationREACTOMER-HSA-379726
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
209206682010Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.81
231597392013Structural switch of lysyl-tRNA synthetase between translation and transcription.48
127562462003The interaction between HIV-1 Gag and human lysyl-tRNA synthetase during viral assembly.46
237685142013Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.43
152204302004Cellular distribution of Lysyl-tRNA synthetase and its interaction with Gag during human immunodeficiency virus type 1 assembly.35
182724792008Crystal structure of tetrameric form of human lysyl-tRNA synthetase: Implications for multisynthetase complex formation.28
227510102012Interaction of two translational components, lysyl-tRNA synthetase and p40/37LRP, in plasma membrane promotes laminin-dependent cell migration.28
167022152006In vitro characterization of the interaction between HIV-1 Gag and human lysyl-tRNA synthetase.25
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
286110522017Caspase-8 controls the secretion of inflammatory lysyl-tRNA synthetase in exosomes from cancer cells.16

Citation

Dessen P

KARS1 (lysyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58086/kars1