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MGP001870

UniProt Annotations

Entry Information
Gene Namemethionyl-tRNA synthetase
Protein EntrySYMC_HUMAN
UniProt IDP56192
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P56192-1; Sequence=Displayed; Name=2; IsoId=P56192-2; Sequence=VSP_056563, VSP_056564; Note=No experimental confirmation available.;
Catalytic ActivityATP + L-methionine + tRNA(Met) = AMP + diphosphate + L-methionyl-tRNA(Met).
DiseaseInfantile liver failure syndrome 2 (ILFS2) [MIM:615486]: A life-threatening disorder of hepatic function that manifests with liver failure in the first months of life. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, anemia, liver canalicular cholestasis, steatosis, and iron deposition. {ECO:0000269|PubMed:24103465}. Note=The disease is caused by mutations affecting the gene represented in this entry.
SimilarityBelongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
SimilarityContains 1 GST C-terminal domain. {ECO:0000305}.
SimilarityContains 1 WHEP-TRS domain. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000305}.
SubunitComponent of the multisynthetase complex which is comprised of a bifunctional glutamyl-prolyl-tRNA synthetase, the monospecific isoleucyl, leucyl, glutaminyl, methionyl, lysyl, arginyl, and aspartyl-tRNA synthetases as well as three auxiliary proteins, p18, p48 and p43.
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