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MGP004326

UniProt Annotations

Entry Information
Gene Namephenylalanyl-tRNA synthetase 2, mitochondrial
Protein EntrySYFM_HUMAN
UniProt IDO95363
SpeciesHuman
Comments
Comment typeDescription
Biophysicochemical PropertiesKinetic parameters: KM=2.2 uM for L-phenylalanine {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}; KM=1900 uM for L-tyrosine {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}; KM=11.7 uM for DL-m-tyrosine {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}; KM=7.3 uM for L-phenylalanine {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}; KM=2.9 mM for ATP {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}; KM=1.2 uM for tRNA(Phe) {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}; Note=kcat is 2.8 min(-1), 2.0 min(-1) and 3.1 min(-1) with L- phenylalanine, L-tyrosine and m-tyrosine as substrate, respectively. Thus, the catalytic efficiency of the m-Tyr attachment is only 5-fold lower than that of the correct amino acid, while that of Tyr attachment is 1000-fold lower (PubMed:19549855). {ECO:0000269|PubMed:19549855};
Catalytic ActivityATP + L-phenylalanine + tRNA(Phe) = AMP + diphosphate + L-phenylalanyl-tRNA(Phe). {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}.
DiseaseCombined oxidative phosphorylation deficiency 14 (COXPD14) [MIM:614946]: A severe multisystemic autosomal recessive disorder characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes. {ECO:0000269|PubMed:22499341, ECO:0000269|PubMed:22833457}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionIs responsible for the charging of tRNA(Phe) with phenylalanine in mitochondrial translation. To a lesser extent, also catalyzes direct attachment of m-Tyr (an oxidized version of Phe) to tRNA(Phe), thereby opening the way for delivery of the misacylated tRNA to the ribosome and incorporation of ROS-damaged amino acid into proteins. {ECO:0000269|PubMed:19549855, ECO:0000269|PubMed:22833457}.
Sequence CautionSequence=AAF28998.1; Type=Frameshift; Positions=414; Evidence={ECO:0000305};
SimilarityBelongs to the class-II aminoacyl-tRNA synthetase family. {ECO:0000305}.
SimilarityContains 1 FDX-ACB domain. {ECO:0000255|PROSITE- ProRule:PRU00778}.
Subcellular LocationMitochondrion matrix {ECO:0000305}.
SubunitMonomer. {ECO:0000269|PubMed:10329163, ECO:0000269|PubMed:18611382, ECO:0000269|PubMed:19549855}.
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