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MGP005200

UniProt Annotations

Entry Information
Gene Nameleucyl-tRNA synthetase
Protein EntrySYLC_HUMAN
UniProt IDQ9P2J5
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9P2J5-1; Sequence=Displayed; Name=2; IsoId=Q9P2J5-2; Sequence=VSP_057205; Note=No experimental confirmation available.; Name=3; IsoId=Q9P2J5-3; Sequence=VSP_057204; Note=No experimental confirmation available.;
Catalytic ActivityATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu).
DiseaseInfantile liver failure syndrome 1 (ILFS1) [MIM:615438]: A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. {ECO:0000269|PubMed:22607940}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Enzyme Regulation(5-fluoro-1,3-dihydro-1-hydroxy-1,2- benzoxaborole) inhibits LARS by forming a covalent adduct with the 3' adenosine of tRNA(Leu) at the editing site, thus locking the enzyme in an inactive conformation.
FunctionCatalyzes the specific attachment of an amino acid to its cognate tRNA in a two step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA. Exhibits a post-transfer editing activity to hydrolyze mischarged tRNAs. {ECO:0000269|PubMed:19426743}.
InteractionP54136:RARS; NbExp=3; IntAct=EBI-356077, EBI-355482; Q8N122:RPTOR; NbExp=3; IntAct=EBI-356077, EBI-1567928; Q9NQL2:RRAGD; NbExp=13; IntAct=EBI-356077, EBI-992949;
Sequence CautionSequence=BAA92590.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
SimilarityBelongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000250}.
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