Literature summary for 6.1.1.1 extracted from

Jordanova, A.; Irobi, J.; Thomas, F.P.; Van Dijck, P.; Meerschaert, K.; Dewil, M.; Dierick, I.; Jacobs, A.; De Vriendt, E.; Guergueltcheva, V.; Rao, C.V.; Tournev, I.; Gondim, F.A.; DHooghe, M.; Van Gerwen, V.; Callaerts, P.; Van Den Bosch, L.; Timmermans, J.P.; Robberecht, W.; Gettemans, J.; The, T.h.e.v.
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy (2006), Nat. Genet., 38, 197-202.

Cloned(Commentary)

Cloned (Comment)	Organism
DNA and amino acid sequence determination of wild-type and mutant enzymes, localization of the gene encoding the enzyme on chromosome 1p34-p35, functional complementation of a Saccharomyces cerevisiae TYS1 mutant strain, overview, transient expression of EGFP-tagged wild-type and mutant enzymes in murine neuroblastoma N2a cells	Homo sapiens

Protein Variants	Comment	Organism
E196K	naturally occuring mutation in the autosomal dominant intermediate Charcot-Marie-Tooth neuropathy type C disorder, the mutant enzyme shows reduced activity and specific distribution in the cell compared to the wild-type enzyme, no functional complementation of a Saccharomyces cerevisiae TYS1 mutant strain, the mutant shows altered distribution in neuronal cells compared to the wild-type enzyme when recombinantly expressed	Homo sapiens
G41R	naturally occuring mutation in the autosomal dominant intermediate Charcot-Marie-Tooth neuropathy type C disorder, the mutant enzyme shows reduced activity and specific distribution in the cell compared to the wild-type enzyme, partial functional complementation of a Saccharomyces cerevisiae TYS1 mutant strain, the mutant shows altered distribution in neuronal cells compared to the wild-type enzyme when recombinantly expressed	Homo sapiens
additional information	disrupted function and axonal distribution of the mutant enzyme in autosomal dominant intermediate Charcot-Marie-Tooth neuropathy type C, a common disorder of the peripheral nervous system, caused by demyelination or axonal degeneration or a combination of both, mutant families analysis, mutation analysis, phenotype, overview	Homo sapiens

Localization	Comment	Organism	GeneOntology No.	Textmining
axon	axonal termini in differentiating primary motor neuron and neuroblastoma cultures	Homo sapiens	30424	-
additional information	subcellular localization of wild-type and mutant YARS, overview	Homo sapiens	-	-

Metals/Ions	Comment	Organism	Structure
Mg2+	-	Homo sapiens

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + L-tyrosine + tRNATyr	Homo sapiens	-	AMP + diphosphate + L-tyrosyl-tRNATyr	-	?
additional information	Homo sapiens	TyrRS deficiency is involved in the autosomal dominant intermediate Charcot-Marie-Tooth neuropathy type C disorder, overview	?	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue	Comment	Organism	Textmining
brain	-	Homo sapiens	-
additional information	YARS is expressed ubiquitously, in neuronal cells making extensions, the enzyme is located at outgrowth behaving like an early polarity maker, overview	Homo sapiens	-
neuroblastoma cell	differentiating, YARS locates mostly in the granular structures of the growth cone, branch points and the most distal part of of projecting neurites, co-localization with synaptophysin	Homo sapiens	-
neuron	e.g. primary embryonic motor neurons	Homo sapiens	-
SH-SY5Y cell	-	Homo sapiens	-
spinal cord	-	Homo sapiens	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + L-tyrosine + tRNATyr	-	Homo sapiens	AMP + diphosphate + L-tyrosyl-tRNATyr	-	?
additional information	TyrRS deficiency is involved in the autosomal dominant intermediate Charcot-Marie-Tooth neuropathy type C disorder, overview	Homo sapiens	?	-	?

Synonyms	Comment	Organism
Tyrosyl-tRNA synthetase	-	Homo sapiens
YARS	-	Homo sapiens

Temperature Optimum [°C]	Temperature Optimum Maximum [°C]	Comment	Organism
37	-	assay at	Homo sapiens

pH Optimum Minimum	pH Optimum Maximum	Comment	Organism
7.6	-	assay at	Homo sapiens

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens