Homo sapiens Protein: QARS | |||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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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 |
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PFAM |
PF04557
PF04558 PF00749 PF03950 |
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PRINTS |
PR00987
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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 | ||||||||||||||||||