Literature summary for 6.1.1.12 extracted from

van Berge, L.; Kevenaar, J.; Polder, E.; Gaudry, A.; Florentz, C.; Sissler, M.; van der Knaap, M.S.; Scheper, G.C.
Pathogenic mutations causing LBSL affect mitochondrial aspartyl-tRNA synthetase in diverse ways (2013), Biochem. J., 450, 345-350.

Search for more literature for 6.1.1.12

Cloned(Commentary)

Cloned (Comment)	Organism
expressed in Escherichia coli BL21(DE3) cells and in HEK-293T cells	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
C152F	the mutation causes strongly reduced protein levels	Homo sapiens
D560V	the mutation causes strongly reduced protein levels, the mutant shows 6fold decreased specific activity compared to the wild type enzyme	Homo sapiens
L613F	the mutant shows reduced specific activity compared to the wild type enzyme	Homo sapiens
L626Q	the mutant shows 43fold decreased specific activity compared to the wild type enzyme	Homo sapiens
Q184K	the mutant shows an increase in specific activity compared to the wild type enzyme	Homo sapiens
Q184K	the mutation causes strongly reduced protein levels	Homo sapiens
R263Q	the mutant shows 135fold decreased specific activity compared to the wild type enzyme	Homo sapiens
R58G	the mutant shows an increase in specific activity compared to the wild type enzyme	Homo sapiens
T136S	the mutant shows an increase in specific activity compared to the wild type enzyme	Homo sapiens

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
mitochondrion	-	Homo sapiens	5739	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + L-aspartate + tRNAAsp	Homo sapiens	-	AMP + diphosphate + L-aspartyl-tRNAAsp	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	Q6PI48	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + L-aspartate + tRNAAsp	-	Homo sapiens	AMP + diphosphate + L-aspartyl-tRNAAsp	-	?

Synonyms

Synonyms	Comment	Organism
Aspartyl-tRNA synthetase	-	Homo sapiens
AspRS	-	Homo sapiens
DARS2	-	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens

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Release 2023.1 (January 2023)