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3735 KARS

3735

KARS

lysyl-tRNA synthetase

protein-coding

Homo sapiens

基因描述

Type Description
Definition lysyl-tRNA synthetase

研究结论

Date Results Publications
2021-01-23 13:01:00 Hairpin RNA-induced conformational change of a eukaryotic-specific lysyl-tRNA synthetase extension and role of adjacent anticodon-binding domain. 32611767
2020-01-11 11:37:00 Through whole-exome sequencing, we discovered genetic abnormalities in lysyl-tRNA synthetase (KARS). All patients harboured the variant [c.1786C>T, p.Leu596Phe] KARS isoform 1 ([c.1702C>T, p.Leu568Phe] of KARS isoform 2). These KARS pathological variants are novel, including the variant [c.1786C>T; p.Leu596Phe] (c.1702C>T; p.Leu568Phe) shared by all patients in the homozygous or compound-heterozygous state. 30715177
2019-12-14 10:38:00 This study adds LARS2 and KARS pathogenic variants as gene defects that may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature. 30737337
2019-09-14 10:53:00 KRS in colon cancer cells remodels the microenvironment to promote metastasis, which can thus be therapeutically targeted at these bidirectional KRS-dependent communications of cancer spheroids with environmental cues. 30188867
2019-03-09 12:37:00 This study demonstrates that human mitochondrial AspRS, ArgRS, and LysRS, each have a specific sub-mitochondrial distribution, with ArgRS being exclusively localized in the membrane, LysRS exclusively in the soluble fraction, and AspRS being present in both. 30006346

名称对应

Type IDs
Synonymous CMTRIB, DFNB89, KARS1, KARS2, KRS
Gene
UniProtKB-ID: SYK_HUMAN
UniprotKB: Q15046
UniParc: UPI000004062F, UPI00001405CB
EMBL: AC025287, D31890, CH471114, BC004132, AF285758, D32053
Ensembl: ENSG00000065427
KO: hsa:3735
Nucleutide sequences
EMBL-CDS: AAG30114.1, AAH04132.1, EAW95622.1, BAA22084.1, BAA06688.1, EAW95624.1
Ensembl_TRS: ENST00000302445, ENST00000319410
Protein sequencees
Ensembl_PRO: ENSP00000325448, ENSP00000303043
RefSeq: NP_001123561.1, NP_005539.1, NP_001365077.1
Others
UniRef100: UniRef100_Q15046
UniRef90: UniRef90_Q15046
UniRef50: UniRef50_Q15046
UniGene: Hs.3100
CCDS: CCDS10923.1, CCDS45532.1

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