Literature summary for 6.1.1.22 extracted from

Simon, M.; Richard, E.M.; Wang, X.; Shahzad, M.; Huang, V.H.; Qaiser, T.A.; Potluri, P.; Mahl, S.E.; Davila, A.; Nazli, S.; Hancock, S.; Yu, M.; Gargus, J.; Chang, R.; Al-Sheqaih, N.; Newman, W.G.; Abdenur, J.; Starr, A.; Hegde, R.; Dorn, T.; Busch, A.; Park, E.; Wu, J.; Schwenzer, H.; Flierl, A.; Florentz, C.
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome (2015), PLoS Genet., 11, e1005097 .

Crystallization (Commentary)

Crystallization (Comment)	Organism
molecular modeling of structure	Homo sapiens

Protein Variants	Comment	Organism
N381S	mutation decreases NARS2 protein levels in patient fibroblasts and also disrupts dimerization of NARS2	Homo sapiens
V213F	mutation is the underlying cause of nonsyndromic hearing loss, mutation has no effect on oligomerization	Homo sapiens
V213F	the mutation causes nonsyndromic hearing loss	Homo sapiens
Y323*/N381S	mutation results in mitochondrial respiratory chain deficiency and Leigh syndrome, a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem	Homo sapiens
Y323DEL/N381S	the mutations result in mitochondrial respiratory chain deficiency and Leigh syndrome which is a neurodegenerative disease characterized by symmetric, bilateral lesions in the basal ganglia, thalamus, and brain stem	Homo sapiens

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

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
ATP + L-asparagine + tRNAAsn	Homo sapiens	-	AMP + diphosphate + L-asparaginyl-tRNAAsn	-	?

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-
Homo sapiens	Q96I59	-	-

Source Tissue	Comment	Organism	Textmining
brain	-	Homo sapiens	-
ear	-	Homo sapiens	-
HEK-293T cell	-	Homo sapiens	-
inner ear	-	Homo sapiens	-

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + L-asparagine + tRNAAsn	-	Homo sapiens	AMP + diphosphate + L-asparaginyl-tRNAAsn	-	?

Subunits	Comment	Organism
dimer	coimmunoprecipitation studies of wild-type and mutant	Homo sapiens

Synonyms	Comment	Organism
Asparaginyl-tRNA synthetase	-	Homo sapiens
NARS2	-	Homo sapiens

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens

General Information	Comment	Organism
malfunction	mutations of the mitochondrial asparaginyl-tRNA synthetase cause nonsyndromic deafness and leigh syndrome	Homo sapiens