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Literature summary 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 .
    View publication on PubMedView publication on EuropePMC

Crystallization (Commentary)

EC Number Crystallization (Comment) Organism
6.1.1.22 molecular modeling of structure Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
6.1.1.22 N381S mutation decreases NARS2 protein levels in patient fibroblasts and also disrupts dimerization of NARS2 Homo sapiens
6.1.1.22 V213F mutation is the underlying cause of nonsyndromic hearing loss, mutation has no effect on oligomerization Homo sapiens
6.1.1.22 V213F the mutation causes nonsyndromic hearing loss Homo sapiens
6.1.1.22 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
6.1.1.22 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

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

Natural Substrates/ Products (Substrates)

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

Organism

EC Number Organism UniProt Comment Textmining
6.1.1.22 Homo sapiens
-
-
-
6.1.1.22 Homo sapiens Q96I59
-
-

Source Tissue

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

Substrates and Products (Substrate)

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

Subunits

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

Synonyms

EC Number Synonyms Comment Organism
6.1.1.22 Asparaginyl-tRNA synthetase
-
 Homo sapiens
6.1.1.22 NARS2
-
 Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
6.1.1.22 ATP
-
 Homo sapiens

General Information

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