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Literature summary for 6.1.1.20 extracted from

  • Almalki, A.; Alston, C.L.; Parker, A.; Simonic, I.; Mehta, S.G.; He, L.; Reza, M.; Oliveira, J.M.; Lightowlers, R.N.; McFarland, R.; Taylor, R.W.; Chrzanowska-Lightowlers, Z.M.
    Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency (2014), Biochim. Biophys. Acta, 1842, 56-64.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expressed in Escherichia coli Tuner cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
D325Y the mutation is associated with early-onset epilepsy and isolated complex IV deficiency in muscle. The mutant is unable to bind ATP and shows consequently undetectable aminoacylation activity 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-phenylalanine + tRNAPhe Homo sapiens
-
AMP + diphosphate + L-phenylalanyl-tRNAPhe
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

Purification (Comment) Organism
glutathione Sepharose column chromatography Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
myoblast
-
Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + L-phenylalanine + tRNAPhe
-
Homo sapiens AMP + diphosphate + L-phenylalanyl-tRNAPhe
-
?

Synonyms

Synonyms Comment Organism
FARS2
-
Homo sapiens
Phenylalanyl-tRNA synthetase
-
Homo sapiens
PheRS
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
ATP
-
Homo sapiens

General Information

General Information Comment Organism
malfunction mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency Homo sapiens