MGP Database

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MGP005609

UniProt Annotations

Entry Information
Gene Namevalyl-tRNA synthetase 2, mitochondrial
Protein EntrySYVM_HUMAN
UniProt IDQ5ST30
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=4; Name=1; IsoId=Q5ST30-1; Sequence=Displayed; Name=2; IsoId=Q5ST30-2; Sequence=VSP_034032; Note=No experimental confirmation available.; Name=3; IsoId=Q5ST30-3; Sequence=VSP_045483; Note=No experimental confirmation available.; Name=4; IsoId=Q5ST30-4; Sequence=VSP_046102; Note=No experimental confirmation available.;
Catalytic ActivityATP + L-valine + tRNA(Val) = AMP + diphosphate + L-valyl-tRNA(Val).
DiseaseCombined oxidative phosphorylation deficiency 20 (COXPD20) [MIM:615917]: A disorder due to mitochondrial respiratory chain complex defects. Clinical features are variable and include muscle weakness with hypotonia, central neurological disease with progressive external ophthalmoplegia, ptosis and ataxia, delayed psychomotor development, cardiomyopathy, abnormal liver function, facial dysmorphism, microcephaly and epilepsy. {ECO:0000269|PubMed:24827421, ECO:0000269|PubMed:25058219}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence CautionSequence=BAB15191.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB67778.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAD92716.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it seems to be derived from a pre-mRNA.; Evidence={ECO:0000305}; Sequence=CAM24842.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAM25404.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAQ06763.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAQ09774.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAQ10925.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
SimilarityBelongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000305}.
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