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6301 SARS

6301

SARS

seryl-tRNA synthetase

protein-coding

Homo sapiens

基因描述

Type Description
Definition seryl-tRNA synthetase

研究结论

Date Results Publications
2018-02-24 11:16:00 Here, we report on mutations in two aminoacyl-tRNA synthetases that are associated with Intellectual disability (ID) in two unrelated Iranian families. In the first family, we identified a homozygous missense mutation (c.514G>A, p.Asp172Asn) in the cytoplasmic seryl-tRNA synthetase (SARS) gene 28236339
2017-10-28 12:06:00 Analyzed the ability of cytosolic SerRS to bind and act on tRNA(Ser), tRNA(Sec), and 10 mutant and chimeric constructs in which elements of tRNA(Ser) were transposed onto tRNA(Sec). We show that SerRS only subtly prefers tRNA(Ser) to tRNA(Sec), and that discrimination occurs at the level of the serylation reaction. 28808125
2017-08-12 12:05:00 Yin Yang 1 (YY1) interacts with Seryl-tRNA synthetase (SerRS) to form a SerRS/YY1 complex which functions as a negative effector to regulate vegfa transcription through binding a distal segment of the vegfa promoter, while NFKB1 serves as a positive effector through outcompeting SerRS/YY1 for binding at the same distal segment. 27913726
2016-04-30 10:21:00 tRNA recognition mode of SerRS. 26433229
2014-07-26 12:01:00 Several data support that p.R402H mutation in SARS2 is a new cause of HUPRA syndrome. 24034276

名称对应

Type IDs
Synonymous NEDMAS, SERRS, SERS
Gene
UniProtKB-ID: SYSC_HUMAN, Q5T5C7_HUMAN, Q0VGA5_HUMAN
UniprotKB: P49591, Q5T5C7, Q0VGA5
UniParc: UPI000013C9B6, UPI000040E2B6, UPI0000DBE1B1
EMBL: BC111398, BC009390, X91257, AL356389, D49914, BC000716, CH471122, AK312771
Ensembl: ENSG00000031698
KO: hsa:6301
Nucleutide sequences
EMBL-CDS: AAH09390.1, BAG35636.1, AAH00716.1, CAA62635.1, BAA95602.1, EAW56369.1, AAI11399.1
Ensembl_TRS: ENST00000234677, ENST00000369923
Protein sequencees
Ensembl_PRO: ENSP00000234677, ENSP00000358939
RefSeq: NP_001317598.1, NP_006504.2
Others
UniRef100: UniRef100_Q0VGA5, UniRef100_Q5T5C7, UniRef100_P49591
UniRef90: UniRef90_F6YEX7, UniRef90_P26638, UniRef90_P49591
UniRef50: UniRef50_P49591, UniRef50_P26638
UniGene: Hs.531176
CCDS: CCDS795.1

全选

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