Homo sapiens Protein: QARS
Summary
InnateDB Protein IDBP-34289.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol QARS
Protein Name glutaminyl-tRNA synthetase
Synonyms GLNRS; MSCCA; PRO2195;
Species Homo sapiens
Ensembl Protein ENSP00000307567
InnateDB Gene IDBG-34287 (QARS)
Protein Structure
UniProt Annotation
Function Plays a critical role in brain development. {ECO:0000269PubMed:24656866}.
Subcellular Localization Cytoplasm {ECO:0000269PubMed:24656866}.
Disease Associations Microcephaly, 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:0000269PubMed:24656866}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in fetal cerebral cortex, particularly in the ventricular zone, inner subventricular zone, outer subventricular zone, and cortical plate. {ECO:0000269PubMed:24656866}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 120 experimentally validated interaction(s) in this database.
Experimentally validated
Total 120 [view]
Protein-Protein 120 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004819 glutamine-tRNA ligase activity
GO:0005524 ATP binding
GO:0016876 ligase activity, forming aminoacyl-tRNA and related compounds
Biological Process
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006425 glutaminyl-tRNA aminoacylation
GO:0010467 gene expression
GO:0043039 tRNA aminoacylation
Cellular Component
GO:0005737 cytoplasm
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
Protein Structure and Domains
PDB ID
InterPro IPR000924 Glutamyl/glutaminyl-tRNA synthetase
IPR004514 Glutamine-tRNA synthetase
IPR007638 Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2
IPR007639 Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal
IPR011035 Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain
IPR020058 Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain
IPR020059 Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain
PFAM PF04557
PF04558
PF00749
PF03950
PRINTS PR00987
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P47897
PhosphoSite PhosphoSite-P47897
TrEMBL Q9H3A5
UniProt Splice Variant
Entrez Gene 5859
UniGene Hs.79322
RefSeq NP_005042
HUGO HGNC:9751
OMIM 603727
CCDS CCDS2788
HPRD 07223
IMGT
EMBL AC135506 AF130067 AK293260 AK301559 BC000394 BC001567 BC001772 BC029739 CH471055 X76013
GenPept AAG35495 AAH00394 AAH01567 AAH01772 AAH29739 BAG56792 BAG63054 CAA53600 EAW64952 EAW64953