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MGP004123

UniProt Annotations

Entry Information
Gene NameTs translation elongation factor, mitochondrial
Protein EntryEFTS_HUMAN
UniProt IDP43897
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=P43897-1; Sequence=Displayed; Name=2; IsoId=P43897-2; Sequence=VSP_001364; Note=No experimental confirmation available.; Name=3; IsoId=P43897-3; Sequence=VSP_043517, VSP_043518; Note=No experimental confirmation available.; Name=4; IsoId=P43897-4; Sequence=VSP_045283, VSP_045284; Note=No experimental confirmation available.;
DiseaseCombined oxidative phosphorylation deficiency 3 (COXPD3) [MIM:610505]: A mitochondrial disease resulting in severe metabolic acidosis with encephalomyopathy or with hypertrophic cardiomyopathy. Patients show a severe defect in mitochondrial translation leading to a failure to assemble adequate amounts of three of the oxidative phosphorylation complexes. {ECO:0000269|PubMed:17033963, ECO:0000269|PubMed:22499341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionAssociates with the EF-Tu.GDP complex and induces the exchange of GDP to GTP. It remains bound to the aminoacyl-tRNA.EF- Tu.GTP complex up to the GTP hydrolysis stage on the ribosome. {ECO:0000255|HAMAP-Rule:MF_03135}.
SimilarityBelongs to the EF-Ts family. {ECO:0000255|HAMAP- Rule:MF_03135}.
Subcellular LocationMitochondrion.
Tissue SpecificityExpressed in all tissues, with the highest levels of expression in skeletal muscle, liver and kidney.
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