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55278 QRSL1

55278

QRSL1

glutaminyl-tRNA amidotransferase subunit QRSL1

protein-coding

Homo sapiens

基因描述

Type Description
Definition glutaminyl-tRNA amidotransferase subunit QRSL1

研究结论

Date Results Publications
2018-12-29 11:30:00 Homozygous intronic variant (c.850-3A > G) in the QRSL1 was identified in a child with cardiomyopathy with early-onset brain disease. 29440775
2010-12-05 22:08:00 Observational study of gene-disease association. (HuGE Navigator) 20877624
2010-01-21 00:00:00 Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB. 19805282
2009-01-11 21:30:00 Observational study of gene-disease association. (HuGE Navigator) 18978678

名称对应

Type IDs
Synonymous GatA
Gene
UniProtKB-ID: GATA_HUMAN
UniprotKB: Q9H0R6
UniParc: UPI0000072958, UPI0000047463
EMBL: BC014389, CH471051, AK022251, AL136679, AK001851, AK023509, AL390074, BC006084
Ensembl: ENSG00000130348
KO: hsa:55278
Nucleutide sequences
EMBL-CDS: BAB13996.1, BAB14592.1, BAA91941.1, CAB66614.1, EAW48407.1, AAH06084.1, AAH14389.1
Ensembl_TRS: ENST00000369046
Protein sequencees
Ensembl_PRO: ENSP00000358042
RefSeq: XP_011534226.1, NP_060762.3
Others
UniRef100: UniRef100_Q9H0R6
UniRef90: UniRef90_Q9H0R6
UniRef50: UniRef50_Q9H0R6
UniGene: Hs.406917
CCDS: CCDS5057.1

全选

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