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MGP006445

UniProt Annotations

Entry Information
Gene Nameglutamyl-tRNA synthetase 2, mitochondrial
Protein EntrySYEM_HUMAN
UniProt IDQ5JPH6
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q5JPH6-1; Sequence=Displayed; Name=2; IsoId=Q5JPH6-2; Sequence=VSP_057203; Note=No experimental confirmation available.;
Catalytic ActivityATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).
DiseaseCombined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]: An autosomal recessive, mitochondrial, neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability. {ECO:0000269|PubMed:22492562, ECO:0000269|PubMed:23008233}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionCatalyzes the attachment of glutamate to tRNA(Glu) in a two-step reaction: glutamate is first activated by ATP to form Glu-AMP and then transferred to the acceptor end of tRNA(Glu). {ECO:0000250}.
SimilarityBelongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationMitochondrion matrix {ECO:0000250}.
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