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 proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu)... See more...

Aliases for QARS1 Gene

Aliases for QARS1 Gene

  • Glutaminyl-TRNA Synthetase 1 2 3 5
  • Glutaminyl-TRNA Synthetase 2 4
  • Glutamine--TRNA Ligase 3 4
  • EC 6.1.1.18 4 50
  • QARS 3 4
  • Glutamine-TRNA Synthetase 3
  • Glutamine TRNA Ligase 2
  • EC 6.1.1 50
  • PRO2195 3
  • GLNRS 3
  • MSCCA 3
  • QARS1 5
  • GlnRS 4

External Ids for QARS1 Gene

Previous HGNC Symbols for QARS1 Gene

  • QARS

Previous GeneCards Identifiers for QARS1 Gene

  • GC03M049184
  • GC03M049223
  • GC03M049240
  • GC03M049295

Summaries for QARS1 Gene

Entrez Gene Summary for QARS1 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 proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneCards Summary for QARS1 Gene

QARS1 (Glutaminyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with QARS1 include Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy and Cortical Blindness. Among its related pathways are Viral mRNA Translation and tRNA Aminoacylation. An important paralog of this gene is EPRS1.

UniProtKB/Swiss-Prot Summary for QARS1 Gene

  • Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866).

Gene Wiki entry for QARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for QARS1 Gene

Genomics for QARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for QARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around QARS1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for QARS1 Gene

Latest Assembly
chr3:49,095,932-49,105,130
(GRCh38/hg38)
Size:
9,199 bases
Orientation:
Minus strand

Previous Assembly
chr3:49,133,365-49,142,190
(GRCh37/hg19 by Entrez Gene)
Size:
8,826 bases
Orientation:
Minus strand

chr3:49,133,365-49,142,553
(GRCh37/hg19 by Ensembl)
Size:
9,189 bases
Orientation:
Minus strand

Genomic View for QARS1 Gene

Genes around QARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QARS1 Gene

Proteins for QARS1 Gene

  • Protein details for QARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P47897-SYQ_HUMAN
    Recommended name:
    Glutamine--tRNA ligase
    Protein Accession:
    P47897
    Secondary Accessions:
    • B4DWJ2

    Protein attributes for QARS1 Gene

    Size:
    775 amino acids
    Molecular mass:
    87799 Da
    Quaternary structure:
    • Monomer (PubMed:26869582). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464). Interacts with RARS1 (PubMed:24656866). Part of a complex composed of RARS1, QARS1 and AIMP1 (PubMed:25288775).

    Three dimensional structures from OCA and Proteopedia for QARS1 Gene

    Alternative splice isoforms for QARS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for QARS1 Gene

Selected DME Specific Peptides for QARS1 Gene

P47897:
  • LRFDDTNP
  • WCIYPTYDYTHCLCDS
  • TRFPPEP
  • WDDPRLFTL
  • RFDDTNP
  • ITHSLCT
  • APRAMAVL
  • DDTNPEKE

Post-translational modifications for QARS1 Gene

  • Ubiquitination at Lys394, Lys586, Lys601, and Lys628
  • Modification sites at PhosphoSitePlus

Domains & Families for QARS1 Gene

Graphical View of Domain Structure for InterPro Entry

P47897

UniProtKB/Swiss-Prot:

SYQ_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with QARS1: view

No data available for Suggested Antigen Peptide Sequences for QARS1 Gene

Function for QARS1 Gene

Molecular function for QARS1 Gene

UniProtKB/Swiss-Prot Function:
Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-glutamine + tRNA(Gln) = AMP + diphosphate + L-glutaminyl-tRNA(Gln); Xref=Rhea:RHEA:20121, Rhea:RHEA-COMP:9662, Rhea:RHEA-COMP:9681, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58359, ChEBI:CHEBI:78442, ChEBI:CHEBI:78521, ChEBI:CHEBI:456215; EC=6.1.1.18; Evidence={ECO:0000269|PubMed:24656866};.

Enzyme Numbers (IUBMB) for QARS1 Gene

Phenotypes From GWAS Catalog for QARS1 Gene

Gene Ontology (GO) - Molecular Function for QARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004819 glutamine-tRNA ligase activity IEA,TAS --
GO:0004860 protein kinase inhibitor activity IMP 11096076
GO:0005515 protein binding IPI 15231748
genes like me logo Genes that share ontologies with QARS1: view
genes like me logo Genes that share phenotypes with QARS1: view

Human Phenotype Ontology for QARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for QARS1 Gene

Localization for QARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for QARS1 Gene

Cytoplasm, cytosol. Cytoplasm.

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for QARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 10791971
GO:0005759 mitochondrial matrix TAS --
GO:0005829 cytosol IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with QARS1: view

No data available for Subcellular locations from COMPARTMENTS for QARS1 Gene

Pathways & Interactions for QARS1 Gene

genes like me logo Genes that share pathways with QARS1: view

Gene Ontology (GO) - Biological Process for QARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006425 glutaminyl-tRNA aminoacylation IEA,IDA 24656866
GO:0006469 negative regulation of protein kinase activity IDA 11096076
GO:0007420 brain development IMP 24656866
genes like me logo Genes that share ontologies with QARS1: view

No data available for SIGNOR curated interactions for QARS1 Gene

Drugs & Compounds for QARS1 Gene

(2) Drugs for QARS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for QARS1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with QARS1: view

Transcripts for QARS1 Gene

mRNA/cDNA for QARS1 Gene

2 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
52 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for QARS1 Gene

No ASD Table

Relevant External Links for QARS1 Gene

GeneLoc Exon Structure for
QARS1

Expression for QARS1 Gene

SOURCE GeneReport for Unigene cluster for QARS1 Gene:

Hs.79322

mRNA Expression by UniProt/SwissProt for QARS1 Gene:

P47897-SYQ_HUMAN
Tissue specificity: Highly expressed in fetal cerebral cortex, particularly in the ventricular zone, inner subventricular zone, outer subventricular zone, and cortical plate.

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for QARS1 Gene

Orthologs for QARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for QARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Rat
(Rattus norvegicus)
Mammalia LOC100911132 29
  • 100 (n)
Chimpanzee
(Pan troglodytes)
Mammalia QARS 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia QARS 29 30
  • 90.67 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Qars 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia QARS 29 30
  • 88.99 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia QARS 30
  • 83 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia QARS 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves QARS 29 30
  • 74.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia QARS 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia qars 29
  • 70.26 (n)
Str.745 29
African clawed frog
(Xenopus laevis)
Amphibia MGC69128 29
Zebrafish
(Danio rerio)
Actinopterygii qars 29 30
  • 65.8 (n)
OneToOne
zgc56395 29
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-gln 29 30
  • 61.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010267 29
  • 57.14 (n)
Worm
(Caenorhabditis elegans)
Secernentea qars-1 29 30
  • 57.19 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR259C 29
  • 50.94 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20449g 29
  • 48.13 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLN4 29 30 32
  • 47.52 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons OVA9 29
  • 51.47 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0185200 29
  • 52.37 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2986 30
  • 59 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU07926 29
  • 55.01 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes qrs1 29
  • 50.45 (n)
Species where no ortholog for QARS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for QARS1 Gene

ENSEMBL:
Gene Tree for QARS1 (if available)
TreeFam:
Gene Tree for QARS1 (if available)
Alliance of Genome Resources:
Additional Orthologs for QARS1

Paralogs for QARS1 Gene

Paralogs for QARS1 Gene

genes like me logo Genes that share paralogs with QARS1: view

Variants for QARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for QARS1 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
1000046 Uncertain Significance: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 49,100,257(-) T/C
NM_005051.3(QARS1):c.1097A>G (p.Lys366Arg)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002145 Uncertain Significance: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 49,099,196(-) G/T
NM_005051.3(QARS1):c.1672C>A (p.Arg558Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002527 Uncertain Significance: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 49,101,437(-) C/T
NM_005051.3(QARS1):c.794G>A (p.Arg265His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1002999 Uncertain Significance: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 49,096,067(-) G/A
NM_005051.3(QARS1):c.2290C>T (p.Arg764Ter)
NONSENSE,NON_CODING_TRANSCRIPT
1003021 Uncertain Significance: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy 49,104,325(-) G/T
NM_005051.3(QARS1):c.264C>A (p.Ser88Arg)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for QARS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Additional Variant Information for QARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
QARS1
Leiden Open Variation Database (LOVD)
QARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for QARS1 Gene

Disorders for QARS1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for QARS1 Gene - From: OMI, CVR, GTR, SWI, and GCD

Disorder Aliases PubMed IDs
microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
  • mscca
cortical blindness
  • blindness, cortical
cerebral visual impairment
  • cortical visual impairment
strabismus
  • strabismus, susceptibility to
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search QARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYQ_HUMAN
  • 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:0000269 PubMed:24656866, ECO:0000269 PubMed:26869582}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for QARS1

genes like me logo Genes that share disorders with QARS1: view

No data available for Genatlas for QARS1 Gene

Publications for QARS1 Gene

  1. Evolution of the Glx-tRNA synthetase family: the glutaminyl enzyme as a case of horizontal gene transfer. (PMID: 8078941) Lamour V … Mirande M (Proceedings of the National Academy of Sciences of the United States of America 1994) 2 3 4 22
  2. The crystal structure of human GlnRS provides basis for the development of neurological disorders. (PMID: 26869582) Ognjenović J … Simonović M (Nucleic acids research 2016) 3 4 72
  3. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. (PMID: 24656866) Zhang X … Nabbout R (American journal of human genetics 2014) 3 4 72
  4. Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation. (PMID: 25288775) Fu Y … Cho Y (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4
  5. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-α-acetylation features. (PMID: 22223895) Bienvenut WV … Giglione C (Molecular & cellular proteomics : MCP 2012) 3 4

No data available for Mastermind for QARS1 Gene

Products for QARS1 Gene

Sources for QARS1 Gene