Literature summary for 6.1.1.14 extracted from

McMillan, H.J.; Schwartzentruber, J.; Smith, A.; Lee, S.; Chakraborty, P.; Bulman, D.E.; Beaulieu, C.L.; Majewski, J.; Boycott, K.M.; Geraghty, M.T.
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease (2014), BMC Med. Genet., 15, 36 .

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Protein Variants

Protein Variants	Comment	Organism
R596Q	the mutation causes systemic mitochondrial disease	Homo sapiens
S635L	the mutation causes systemic mitochondrial disease	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + glycine + tRNAGly	Homo sapiens	-	AMP + diphosphate + glycyl-tRNAGly	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P41250	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + glycine + tRNAGly	-	Homo sapiens	AMP + diphosphate + glycyl-tRNAGly	-	?

Synonyms

Synonyms	Comment	Organism
GARS	-	Homo sapiens
Glycyl-tRNA synthetase	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens

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Release 2023.1 (January 2023)