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5917 RARS

5917

RARS

arginyl-tRNA synthetase

protein-coding

Homo sapiens

基因描述

Type Description
Definition arginyl-tRNA synthetase

研究结论

Date Results Publications
2021-02-06 13:50:00 RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. 31814314
2019-07-27 10:55:00 we demonstrated the presence of the recurrent RARS-MAD1L1 gene fusion in NPC. Furthermore, we provided the first evidence showing that the RARS-MAD1L1 fusion gene enhances tumorigenicity, CSC-like properties, and therapeutic resistance 29133573
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
2017-12-16 11:29:00 Missense variant Ser456Leu and a de novo deletion Tyr616Leufs*6 cause disorder akin to Pelizaeus-Merzbacher disease. 28905880
2015-06-27 12:34:00 Data indicate that the N terminus of Pro-EMAP II binds to its C terminus, arginyl-tRNA synthetase, and the neurofilament light subunit. 25724651

名称对应

Type IDs
Synonymous ArgRS, DALRD1, HLD9
Gene
UniProtKB-ID: SYRC_HUMAN
UniprotKB: P54136
UniParc: UPI0000D7A514, UPI0000136648
EMBL: AK314795, AK222797, BT007394, BC014619, BC000528, S80343
Ensembl: ENSG00000113643
KO: hsa:5917
Nucleutide sequences
EMBL-CDS: BAD96517.1, AAP36058.1, AAH14619.1, AAB35627.1, BAG37326.1, AAH00528.1
Ensembl_TRS: ENST00000231572
Protein sequencees
Ensembl_PRO: ENSP00000231572
RefSeq: NP_002878.2
Others
UniRef100: UniRef100_P54136
UniRef90: UniRef90_P54136
UniRef50: UniRef50_P54136
UniGene: Hs.654907
CCDS: CCDS4367.1

全选

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研究热度

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