Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3735
MIM: 601421
HGNC: 6215
Ensembl: ENSG00000065427
Variants:
dbSNP: 3735
ClinVar: 3735
TCGA: ENSG00000065427
COSMIC: KARS1
RNA/Proteins
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37770806 | 2023 | Antibody Deficiency in Patients with Biallelic KARS1 Mutations. | 0 |
| 37933844 | 2023 | Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral DNA transcription. | 1 |
| 37770806 | 2023 | Antibody Deficiency in Patients with Biallelic KARS1 Mutations. | 0 |
| 37933844 | 2023 | Human lysyl-tRNA synthetase phosphorylation promotes HIV-1 proviral DNA transcription. | 1 |
| 35912727 | 2022 | Changes in subcellular localization of Lysyl-tRNA synthetase and the 67-kDa laminin receptor in epithelial ovarian cancer metastases. | 0 |
| 35912727 | 2022 | Changes in subcellular localization of Lysyl-tRNA synthetase and the 67-kDa laminin receptor in epithelial ovarian cancer metastases. | 0 |
| 33784510 | 2021 | Structural analyses of a human lysyl-tRNA synthetase mutant associated with autosomal recessive nonsyndromic hearing impairment. | 3 |
| 33942428 | 2021 | Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. | 2 |
| 34172899 | 2021 | Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. | 9 |
| 33784510 | 2021 | Structural analyses of a human lysyl-tRNA synthetase mutant associated with autosomal recessive nonsyndromic hearing impairment. | 3 |
| 33942428 | 2021 | Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. | 2 |
| 34172899 | 2021 | Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. | 9 |
| 32611767 | 2020 | Hairpin RNA-induced conformational change of a eukaryotic-specific lysyl-tRNA synthetase extension and role of adjacent anticodon-binding domain. | 0 |
| 32611767 | 2020 | Hairpin RNA-induced conformational change of a eukaryotic-specific lysyl-tRNA synthetase extension and role of adjacent anticodon-binding domain. | 0 |
| 30715177 | 2019 | Biallelic 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/kars1-(lysyl-trna-synthetase-1)
