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6.1.1.9: valine-tRNA ligase

This is an abbreviated version!
For detailed information about valine-tRNA ligase, go to the full flat file.

Word Map on EC 6.1.1.9

Reaction

ATP
+
L-valine
 +
tRNAVal
=
AMP
 +
diphosphate
 +
L-valyl-tRNAVal

Synonyms

G7a, glp-4, mitochondrial valyl tRNA synthetase, More, MTTV, Os03g0694900, OsValRS2, Synthetase, valyl-transfer ribonucleate, Val-tRNA synthetase, Valine transfer ribonucleate ligase, Valine translase, Valine--tRNA ligase, ValRS, ValRS1, ValRS2, valS, valyl aminoacyl tRNA synthetase, Valyl transfer ribonucleic acid synthetase, Valyl-transfer ribonucleate synthetase, Valyl-transfer RNA synthetase, Valyl-tRNA ligase, Valyl-tRNA synthetase, valyl-tRNAsynthetase, VARS, VARS-2, Vas1, Vas2, white panicle1

ECTree

     6 Ligases
         6.1 Forming carbon-oxygen bonds
             6.1.1 Ligases forming aminoacyl-tRNA and related compounds
                6.1.1.9 valine-tRNA ligase

Disease

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Disease on EC 6.1.1.9 - valine-tRNA ligase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Brain Diseases
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Cardiomyopathy, Hypertrophic
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Epilepsy
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Infections
Analysis of the structure of T4 bacteriophage-modified valyl-tRNA synthetase by limited proteolysis and isoelectric focusing.
C. elegans germline-deficient mutants respond to pathogen infection using shared and distinct mechanisms.
Response of a phage modification factor to enhanced production of its target molecule.
Leukemia
Evolutionary significance of intra-genome duplications on human chromosomes.
Subcellular distribution of aminoacyl-tRNA synthetases in various eukaryotic cells.
Liver Neoplasms, Experimental
[Effects of ionizing radiations on the activity of valyl-tRNA synthetase isolated from rat liver and Morris hepatoma 7777 (author's transl)]
Microcephaly
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Muscle Hypotonia
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy.
Neoplasms
Identification of a Specific Translational Machinery via TCTP-EF1A2 Interaction Regulating NF1-associated Tumor Growth by Affinity Purification and Data-independent Mass Spectrometry Acquisition (AP-DIA).
Seizures
Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.
Sjogren's Syndrome
Short-range linkage relationships of the valyl-tRNA synthetase gene in Fugu rubripes.
Tuberculosis
Purification & properties of valyl-tRNA synthetase from Mycobacterium tuberculosis H37Rv.