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Literature summary for 6.1.1.1 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
Search for more literature for 6.1.1.1

Application

Application Comment Organism
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
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)

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

Protein Variants

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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

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

Purification (Commentary)

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

Source Tissue

Source Tissue Comment Organism Textmining
neuron
-
 Drosophila melanogaster
-
neuron
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Synonyms

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

Cofactor

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