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5859 QARS

5859

QARS

glutaminyl-tRNA synthetase

protein-coding

Homo sapiens

基因描述

Type Description
Definition glutaminyl-tRNA synthetase

研究结论

Date Results Publications
2021-02-02 13:29:00 [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature]. 33256324
2018-04-28 11:22:00 patient's fibroblasts demonstrated markedly reduced QARS amino acylation activity in vitro 28620870
2017-03-25 11:57:00 hcmv-miR-US4-1 may involve in promoting cell apoptosis and benefiting discharge of infectious virus particles via down-regulation of QARS in HCMV-infected HELF cells. 27240979
2016-09-24 10:05:00 Pathological mutations mapping in the N-terminal domain alter the domain structure, and decrease catalytic activity and stability of GlnRS, whereas missense mutations in the catalytic domain induce misfolding of the enzyme. 26869582
2016-04-02 11:25:00 Data indicate compound heterozygous mutations [c.169T>C (p.Tyr57His) and c.1485dup (p.Lys496*)] in QARS, which encodes glutaminyl-tRNA synthetase, in two siblings with early-onset epileptic encephalopathy (EOEE). 25471517

名称对应

Type IDs
Synonymous GLNRS, MSCCA, PRO2195
Gene
UniProtKB-ID: SYQ_HUMAN, B7Z840_HUMAN
UniprotKB: P47897, B7Z840
UniParc: UPI000022C075, UPI0001915151, UPI000013661E
EMBL: X76013, BC001567, AK302867, BC000394, AK301559, BC029739, AC135506
Ensembl: ENSG00000172053
KO: hsa:5859
Nucleutide sequences
EMBL-CDS: BAG63054.1, AAH00394.1, CAA53600.1, AAH29739.1, AAH01567.1, BAH13826.1
Ensembl_TRS: ENST00000414533, ENST00000306125
Protein sequencees
Ensembl_PRO: ENSP00000390015, ENSP00000307567
RefSeq: XP_016862454.2, NP_001259002.1, NP_005042.1
Others
UniRef100: UniRef100_B7Z840, UniRef100_P47897
UniRef90: UniRef90_P47897, UniRef90_B7Z840
UniRef50: UniRef50_A0A0U1RQT0, UniRef50_P47897
UniGene: Hs.79322
CCDS: CCDS63633.1, CCDS2788.1

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