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MT001514

UniProt Annotations

Entry Information

Gene Name	glutamyl-tRNA synthetase 2, mitochondrial
Protein Entry	SYEM_HUMAN
UniProt ID	Q5JPH6
Species	Human

Comments

Comment type	Description
Alternative Products	Event=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 Activity	ATP + L-glutamate + tRNA(Glu) = AMP + diphosphate + L-glutamyl-tRNA(Glu).
Disease	Combined 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.
Function	Catalyzes 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}.
Similarity	Belongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular Location	Mitochondrion matrix {ECO:0000250}.