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Literature summary for 6.1.1.19 extracted from

  • Edvardson, S.; Shaag, A.; Kolesnikova, O.; Gomori, J.M.; Tarassov, I.; Einbinder, T.; Saada, A.; Elpeleg, O.
    Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia (2007), Am. J. Hum. Genet., 81, 857-862.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 6.1.1.19

Protein Variants

Protein Variants Comment Organism
RARSL the RARSL mutation in the mitochondrial arginyl–tRNA synthetase gene is associated with pontocerebellar hypoplasia Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + L-arginine + tRNAArg
-
 Homo sapiens AMP + diphosphate + L-arginyl-tRNAArg
-
 ?

Synonyms

Synonyms Comment Organism
arginyl–tRNA synthetase
-
 Homo sapiens
RARS2
-
 Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Homo sapiens