Property Summary

NCBI Gene PubMed Count 17
Grant Count 65
R01 Count 47
Funding $9,842,633.74
PubMed Score 140.81
PubTator Score 25.01

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
lung cancer 1.300 0.028
Breast cancer 2.700 0.026
ovarian cancer 1.300 0.001

Synonym

Accession Q9Y2Z4 D3DUW8 Q9H817
Symbols TYRRS
CGI-04
MLASA2
MT-TYRRS

Gene

PDB

2PID   3ZXI  

Gene RIF (8)

PMID Text
24344687 Data identified novel YARS2 mutations and noted marked phenotypic variability among YARS2 MLASA patients, with phenotypes ranging from mild to lethal, suggesting that the background mtDNA haplotype may be contributing to the phenotypic variability.
22504945 The study confirms mutations in YARS2 as a cause of MLASA and shows that, like some of the cytoplasmic ARSs, mitochondrial ARSs occur in high-molecular-weight complexes.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20598274 The YARS2 mutation reported here is an alternative cause of MLASA.
17997975 the structure of a strictly mitochondrial human synthetase, namely tyrosyl-tRNA synthetase (mt-TyrRS), in complex with an adenylate analog at 2.2 A resolution
17672918 the apparent occurrence of an unusual TG 3' splice site in intron 5 is discussed
15840810 first example of a TyrRS lacking specificity toward N1-N72 and thus of a TyrRS disobeying the identity rules
15779907 The gene for mitochondrial tyrosyl-tRNA synthetase is described and the initial characterization of the enzyme is reported. Genes for the remaining missing synthetases have also been found with the exception of human glutaminyl-tRNA synthetase.

AA Sequence

MAAPILRSFSWGRWSGTLNLSVLLPLGLRKAHSGAQGLLAAQKARGLFKDFFPETGTKIELPELFDRGTA      1 - 70
SFPQTIYCGFDPTADSLHVGHLLALLGLFHLQRAGHNVIALVGGATARLGDPSGRTKEREALETERVRAN     71 - 140
ARALRLGLEALAANHQQLFTDGRSWGSFTVLDNSAWYQKQHLVDFLAAVGGHFRMGTLLSRQSVQLRLKS    141 - 210
PEGMSLAEFFYQVLQAYDFYYLFQRYGCRVQLGGSDQLGNIMSGYEFINKLTGEDVFGITVPLITSTTGA    211 - 280
KLGKSAGNAVWLNRDKTSPFELYQFFVRQPDDSVERYLKLFTFLPLPEIDHIMQLHVKEPERRGPQKRLA    281 - 350
AEVTKLVHGREGLDSAKRCTQALYHSSIDALEVMSDQELKELFKEAPFSEFFLDPGTSVLDTCRKANAIP    351 - 420
DGPRGYRMITEGGVSINHQQVTNPESVLIVGQHILKNGLSLLKIGKRNFYIIKWLQL                 421 - 477
//

Text Mined References (21)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
24344687 2013 Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
22681889 2012 The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.
22504945 2012 A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia.
21269460 2011 Initial characterization of the human central proteome.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20598274 2010 Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
17997975 2007 Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features.
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