KARS1 (lysyl-tRNA synthetase 1)

2019-08-01  

Identity

HGNC
KARS1
LOCATION
16q23.1
LOCUSID
3735
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
377708062023Antibody Deficiency in Patients with Biallelic KARS1 Mutations.0
379338442023Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral DNA transcription.1
377708062023Antibody Deficiency in Patients with Biallelic KARS1 Mutations.0
379338442023Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral DNA transcription.1
359127272022Changes in subcellular localization of Lysyl-tRNA synthetase and the 67-kDa laminin receptor in epithelial ovarian cancer metastases.0
359127272022Changes in subcellular localization of Lysyl-tRNA synthetase and the 67-kDa laminin receptor in epithelial ovarian cancer metastases.0
337845102021Structural analyses of a human lysyl-tRNA synthetase mutant associated with autosomal recessive nonsyndromic hearing impairment.3
339424282021Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.2
341728992021Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.9
337845102021Structural analyses of a human lysyl-tRNA synthetase mutant associated with autosomal recessive nonsyndromic hearing impairment.3
339424282021Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease.2
341728992021Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish.9
326117672020Hairpin RNA-induced conformational change of a eukaryotic-specific lysyl-tRNA synthetase extension and role of adjacent anticodon-binding domain.0
326117672020Hairpin RNA-induced conformational change of a eukaryotic-specific lysyl-tRNA synthetase extension and role of adjacent anticodon-binding domain.0
307151772019Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.10

Citation

Dessen P

KARS1 (lysyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58086/gene-explorer/deep-insight-explorer/