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Literature summary extracted from

  • Storkebaum, E.; Leitao-Goncalves, R.; Godenschwege, T.; Nangle, L.; Mejia, M.; Bosmans, I.; Ooms, T.; Jacobs, A.; Van Dijck, P.; Yang, X.L.; Schimmel, P.; Norga, K.; Timmerman, V.; Callaerts, P.; Jordanova, A.
    Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy (2009), Proc. Natl. Acad. Sci. USA, 106, 11782-11787.
    View publication on PubMedView publication on EuropePMC

Application

EC Number Application Comment Organism
6.1.1.1 medicine dominant-intermediate Charcot-Marie-Tooth neuropathy, DI-CMT, is characterized by axonal degeneration and demyelination of peripheral motor and sensory neurons, three dominant mutations in the YARS gene, encoding tyrosyl-tRNA synthetase, have so far been associated with DI-CMT type C Drosophila melanogaster
6.1.1.1 medicine dominant-intermediate Charcot-Marie-Tooth neuropathy, DI-CMT, is characterized by axonal degeneration and demyelination of peripheral motor and sensory neurons, three dominant mutations in the YARS gene, encoding tyrosyl-tRNA synthetase, have so far been associated with DI-CMT type C Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
6.1.1.1
-
Homo sapiens
6.1.1.1 into the pUAST transformation vector Drosophila melanogaster
6.1.1.1 into the single copy plasmid YCplac111 Saccharomyces cerevisiae

Protein Variants

EC Number Protein Variants Comment Organism
6.1.1.1 TyrRS_153-156delVKQV dominant-intermediate Charcot-Marie-Tooth neuropathy associated mutation Homo sapiens
6.1.1.1 TyrRS_E196K dominant-intermediate Charcot-Marie-Tooth neuropathy associated mutation Homo sapiens
6.1.1.1 TyrRS_G41R dominant-intermediate Charcot-Marie-Tooth neuropathy associated mutation Homo sapiens
6.1.1.1 YARS_153-156delVKQV dominant-intermediate Charcot-Marie-Tooth neuropathy associated mutation Saccharomyces cerevisiae
6.1.1.1 YARS_E196K dominant-intermediate Charcot-Marie-Tooth neuropathy associated mutation Saccharomyces cerevisiae
6.1.1.1 YARS_G41R dominant-intermediate Charcot-Marie-Tooth neuropathy associated mutation Saccharomyces cerevisiae

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
6.1.1.1 cytoplasm
-
Drosophila melanogaster 5737
-
6.1.1.1 cytoplasm
-
Homo sapiens 5737
-
6.1.1.1 cytoplasm
-
Saccharomyces cerevisiae 5737
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
6.1.1.1 ATP + L-tyrosine + tRNATyr Drosophila melanogaster
-
AMP + diphosphate + L-tyrosyl-tRNATyr
-
?
6.1.1.1 ATP + L-tyrosine + tRNATyr Homo sapiens
-
AMP + diphosphate + L-tyrosyl-tRNATyr
-
?
6.1.1.1 ATP + L-tyrosine + tRNATyr Saccharomyces cerevisiae
-
AMP + diphosphate + L-tyrosyl-tRNATyr
-
?

Organism

EC Number Organism UniProt Comment Textmining
6.1.1.1 Drosophila melanogaster
-
a model for human dominant-intermediate Charcot-Marie-Tooth neuropathy type C is established
-
6.1.1.1 Homo sapiens
-
-
-
6.1.1.1 Saccharomyces cerevisiae
-
-
-

Purification (Commentary)

EC Number Purification (Comment) Organism
6.1.1.1 by utilizing the His-tag Homo sapiens

Source Tissue

EC Number Source Tissue Comment Organism Textmining
6.1.1.1 neuron
-
Drosophila melanogaster
-
6.1.1.1 neuron
-
Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
6.1.1.1 ATP + L-tyrosine + tRNATyr
-
Drosophila melanogaster AMP + diphosphate + L-tyrosyl-tRNATyr
-
?
6.1.1.1 ATP + L-tyrosine + tRNATyr
-
Homo sapiens AMP + diphosphate + L-tyrosyl-tRNATyr
-
?
6.1.1.1 ATP + L-tyrosine + tRNATyr
-
Saccharomyces cerevisiae AMP + diphosphate + L-tyrosyl-tRNATyr
-
?

Synonyms

EC Number Synonyms Comment Organism
6.1.1.1 dTyRS
-
Drosophila melanogaster
6.1.1.1 Tyrosyl-tRNA synthetase
-
Drosophila melanogaster
6.1.1.1 Tyrosyl-tRNA synthetase
-
Homo sapiens
6.1.1.1 Tyrosyl-tRNA synthetase
-
Saccharomyces cerevisiae
6.1.1.1 TyrRS
-
Drosophila melanogaster
6.1.1.1 TyrRS
-
Homo sapiens
6.1.1.1 TyrRS
-
Saccharomyces cerevisiae
6.1.1.1 TYS1
-
Saccharomyces cerevisiae

Cofactor

EC Number Cofactor Comment Organism Structure
6.1.1.1 ATP
-
Drosophila melanogaster
6.1.1.1 ATP
-
Homo sapiens
6.1.1.1 ATP
-
Saccharomyces cerevisiae