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MGP002548

UniProt Annotations

Entry Information
Gene Nameglutaminyl-tRNA synthetase
Protein EntrySYQ_HUMAN
UniProt IDP47897
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P47897-1; Sequence=Displayed; Name=2; IsoId=P47897-2; Sequence=VSP_055107;
Catalytic ActivityATP + L-glutamine + tRNA(Gln) = AMP + diphosphate + L-glutaminyl-tRNA(Gln).
DiseaseMicrocephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760]: A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia. {ECO:0000269|PubMed:24656866}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionPlays a critical role in brain development. {ECO:0000269|PubMed:24656866}.
InteractionP48634:PRRC2A; NbExp=1; IntAct=EBI-347462, EBI-347545;
SimilarityBelongs to the class-I aminoacyl-tRNA synthetase family. {ECO:0000305}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:24656866}.
SubunitPart of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro. Interacts with RARS. {ECO:0000269|PubMed:24656866}.
Tissue SpecificityHighly expressed in fetal cerebral cortex, particularly in the ventricular zone, inner subventricular zone, outer subventricular zone, and cortical plate. {ECO:0000269|PubMed:24656866}.
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