QARS1 (glutaminyl-tRNA synthetase 1)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5859
Gene name Gene Name - the full gene name approved by the HGNC.
Glutaminyl-tRNA synthetase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
QARS1
Synonyms (NCBI Gene) Gene synonyms aliases
GLNRS, MSCCA, PRO2195, QARS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MSCCA
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p21.31
Summary Summary of gene provided in NCBI Entrez Gene.
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first prot
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs62621067 G>T Conflicting-interpretations-of-pathogenicity, likely-benign Non coding transcript variant, coding sequence variant, missense variant
rs144563810 G>A Conflicting-interpretations-of-pathogenicity Missense variant, non coding transcript variant, coding sequence variant
rs370934093 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs587777331 C>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs587777333 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(23)
GO ID Ontology Definition Evidence Reference
GO:0004819 Function Glutamine-tRNA ligase activity IBA 21873635
GO:0004819 Function Glutamine-tRNA ligase activity IDA 26869582
GO:0004819 Function Glutamine-tRNA ligase activity TAS
GO:0004860 Function Protein kinase inhibitor activity IMP 11096076
GO:0005515 Function Protein binding IPI 15231748, 21988832, 24656866, 25416956, 25910212, 31515488, 32296183, 32814053
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603727 9751 ENSG00000172053
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P47897
Protein name Glutamine--tRNA ligase (EC 6.1.1.18) (Glutaminyl-tRNA synthetase) (GlnRS)
Protein function Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866).
PDB 4R3Z , 4YE6 , 4YE8 , 4YE9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04558 tRNA_synt_1c_R1 5 → 162 Family
PF04557 tRNA_synt_1c_R2 165 → 254 Family
PF00749 tRNA-synt_1c 263 → 563 tRNA synthetases class I (E and Q), catalytic domain Domain
PF03950 tRNA-synt_1c_C 565 → 752 tRNA synthetases class I (E and Q), anti-codon binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in fetal cerebral cortex, particularly in the ventricular zone, inner subventricular zone, outer subventricular zone, and cortical plate. {ECO:0000269|PubMed:24656866}.
Sequence
Sequence length 775
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Aminoacyl-tRNA biosynthesis
Metabolic pathways 		  Cytosolic tRNA aminoacylation
Mitochondrial tRNA aminoacylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay, Profound global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Diffuse cerebral and cerebellar atrophy - intractable seizures - microcephaly syndrome Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome rs587777331, rs587777333, rs587777334, rs1064795119, rs755674457, rs1241706645, rs1553751717, rs1559966797, rs767667312, rs1024765171, rs141184565, rs1186557939, rs2042472129
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Cerebellar atrophy diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome GenCC
Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome microcephaly-short stature-intellectual disability-facial dysmorphism syndrome GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Anemia Associate 29875423
Attention Deficit Disorder with Hyperactivity Associate 28332277
Brain Diseases Associate 26869582
Hypoalbuminemia Associate 29875423
Hypokalemia Familial Associate 29875423
Lung Diseases Associate 29875423
Neurologic Manifestations Associate 26869582