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Protein

Glutamine--tRNA ligase

Gene

QARS

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Glutamine--tRNA ligase (PubMed:26869582). Plays a critical role in brain development (PubMed:24656866).2 Publications

Catalytic activityi

ATP + L-glutamine + tRNA(Gln) = AMP + diphosphate + L-glutaminyl-tRNA(Gln).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei303L-glutamineBy similarity1
Binding sitei438L-glutamineBy similarity1
Binding sitei457ATPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi271 – 273ATPBy similarity3
Nucleotide bindingi277 – 283ATPBy similarity7
Nucleotide bindingi486 – 487ATPBy similarity2
Nucleotide bindingi494 – 496ATPBy similarity3

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • glutamine-tRNA ligase activity Source: UniProtKB
  • protein kinase binding Source: CAFA
  • protein kinase inhibitor activity Source: CAFA

GO - Biological processi

Keywordsi

Molecular functionAminoacyl-tRNA synthetase, Ligase
Biological processProtein biosynthesis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-2408517 SeMet incorporation into proteins
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-379726 Mitochondrial tRNA aminoacylation

Protein family/group databases

MoonProtiP47897

Names & Taxonomyi

Protein namesi
Recommended name:
Glutamine--tRNA ligase (EC:6.1.1.182 Publications)
Alternative name(s):
Glutaminyl-tRNA synthetase
Short name:
GlnRS2 Publications
Gene namesi
Name:QARS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000172053.15
HGNCiHGNC:9751 QARS
MIMi603727 gene
neXtProtiNX_P47897

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615760
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07118945G → V in MSCCA; results in reduced glutaminyl-tRNA aminoacylation activity; does not affect interaction with RARS. 2 PublicationsCorresponds to variant dbSNP:rs587777331EnsemblClinVar.1
Natural variantiVAR_07119057Y → H in MSCCA; results in reduced glutaminyl-tRNA aminoacylation activity; does not affect interaction with RARS. 2 PublicationsCorresponds to variant dbSNP:rs587777333EnsemblClinVar.1
Natural variantiVAR_071191403R → W in MSCCA; results in loss of glutaminyl-tRNA aminoacylation activity; impairs protein folding; does not interact with RARS; results in reduced protein solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777332EnsemblClinVar.1
Natural variantiVAR_071192515R → W in MSCCA; results in loss of glutaminyl-tRNA aminoacylation activity; impairs protein folding; results in reduced protein solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777334EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi175H → A: Decreases catalytic efficiency about 60-fold. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy, Primary microcephaly

Organism-specific databases

DisGeNETi5859
MalaCardsiQARS
MIMi615760 phenotype
OpenTargetsiENSG00000172053
Orphaneti404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
PharmGKBiPA34093

Chemistry databases

ChEMBLiCHEMBL3054
DrugBankiDB00130 L-Glutamine

Polymorphism and mutation databases

DMDMi1351170

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources1 Publication
ChainiPRO_00001958602 – 775Glutamine--tRNA ligaseAdd BLAST774

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1 Publication1
Modified residuei70PhosphoserineCombined sources1
Modified residuei309N6-acetyllysineCombined sources1
Modified residuei495PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP47897
MaxQBiP47897
PaxDbiP47897
PeptideAtlasiP47897
PRIDEiP47897
ProteomicsDBi55816

PTM databases

iPTMnetiP47897
PhosphoSitePlusiP47897
SwissPalmiP47897

Expressioni

Tissue specificityi

Highly expressed in fetal cerebral cortex, particularly in the ventricular zone, inner subventricular zone, outer subventricular zone, and cortical plate.1 Publication

Gene expression databases

BgeeiENSG00000172053 Expressed in 233 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_QARS
ExpressionAtlasiP47897 baseline and differential
GenevisibleiP47897 HS

Organism-specific databases

HPAiHPA036986
HPA036987

Interactioni

Subunit structurei

Monomer (PubMed:26869582). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464). Interacts with RARS (PubMed:24656866). Part of a complex composed of RARS, QARS and AIMP1 (PubMed:25288775).5 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111797, 196 interactors
CORUMiP47897
IntActiP47897, 111 interactors
MINTiP47897
STRINGi9606.ENSP00000307567

Chemistry databases

BindingDBiP47897

Structurei

Secondary structure

1775
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP47897
SMRiP47897
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi270 – 280"HIGH" region1 PublicationAdd BLAST11
Motifi493 – 497"KMSKS" region1 Publication5

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1148 Eukaryota
COG0008 LUCA
GeneTreeiENSGT00550000074972
HOGENOMiHOG000259233
HOVERGENiHBG000889
InParanoidiP47897
KOiK01886
OMAiVTHSICT
OrthoDBiEOG091G026F
PhylomeDBiP47897
TreeFamiTF105683

Family and domain databases

Gene3Di2.40.240.10, 3 hits
3.40.50.620, 1 hit
InterProiView protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR004514 Gln-tRNA-synth
IPR007638 Gln-tRNA-synth_Ib_RNA-bd_2
IPR007639 Gln-tRNA-synth_Ib_RNA-bd_N
IPR000924 Glu/Gln-tRNA-synth
IPR020058 Glu/Gln-tRNA-synth_Ib_cat-dom
IPR020059 Glu/Gln-tRNA-synth_Ib_codon-bd
IPR020056 Rbsml_L25/Gln-tRNA_synth_N
IPR011035 Ribosomal_L25/Gln-tRNA_synth
IPR014729 Rossmann-like_a/b/a_fold
PfamiView protein in Pfam
PF00749 tRNA-synt_1c, 1 hit
PF03950 tRNA-synt_1c_C, 1 hit
PF04558 tRNA_synt_1c_R1, 1 hit
PF04557 tRNA_synt_1c_R2, 1 hit
PRINTSiPR00987 TRNASYNTHGLU
SUPFAMiSSF50715 SSF50715, 1 hit
TIGRFAMsiTIGR00440 glnS, 1 hit
PROSITEiView protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 22 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P47897-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAALDSLSLF TSLGLSEQKA RETLKNSALS AQLREAATQA QQTLGSTIDK
60 70 80 90 100
ATGILLYGLA SRLRDTRRLS FLVSYIASKK IHTEPQLSAA LEYVRSHPLD
110 120 130 140 150
PIDTVDFERE CGVGVIVTPE QIEEAVEAAI NRHRPQLLVE RYHFNMGLLM
160 170 180 190 200
GEARAVLKWA DGKMIKNEVD MQVLHLLGPK LEADLEKKFK VAKARLEETD
210 220 230 240 250
RRTAKDVVEN GETADQTLSL MEQLRGEALK FHKPGENYKT PGYVVTPHTM
260 270 280 290 300
NLLKQHLEIT GGQVRTRFPP EPNGILHIGH AKAINFNFGY AKANNGICFL
310 320 330 340 350
RFDDTNPEKE EAKFFTAICD MVAWLGYTPY KVTYASDYFD QLYAWAVELI
360 370 380 390 400
RRGLAYVCHQ RGEELKGHNT LPSPWRDRPM EESLLLFEAM RKGKFSEGEA
410 420 430 440 450
TLRMKLVMED GKMDPVAYRV KYTPHHRTGD KWCIYPTYDY THCLCDSIEH
460 470 480 490 500
ITHSLCTKEF QARRSSYFWL CNALDVYCPV QWEYGRLNLH YAVVSKRKIL
510 520 530 540 550
QLVATGAVRD WDDPRLFTLT ALRRRGFPPE AINNFCARVG VTVAQTTMEP
560 570 580 590 600
HLLEACVRDV LNDTAPRAMA VLESLRVIIT NFPAAKSLDI QVPNFPADET
610 620 630 640 650
KGFHQVPFAP IVFIERTDFK EEPEPGFKRL AWGQPVGLRH TGYVIELQHV
660 670 680 690 700
VKGPSGCVES LEVTCRRADA GEKPKAFIHW VSQPLMCEVR LYERLFQHKN
710 720 730 740 750
PEDPTEVPGG FLSDLNLASL HVVDAALVDC SVALAKPFDK FQFERLGYFS
760 770
VDPDSHQGKL VFNRTVTLKE DPGKV
Length:775
Mass (Da):87,799
Last modified:February 1, 1996 - v1
Checksum:iADDE23E6C442FF73
GO
Isoform 2 (identifier: P47897-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     78-89: SKKIHTEPQLSA → T

Show »
Length:764
Mass (Da):86,579
Checksum:iBA9B1C92EE0C2F72
GO

Computationally mapped potential isoform sequencesi

There are 22 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0U1RQL2A0A0U1RQL2_HUMAN
Glutamine--tRNA ligase
QARS
191Annotation score:
B4DDN1B4DDN1_HUMAN
Glutamine--tRNA ligase
QARS hCG_96727
630Annotation score:
A0A0U1RQT0A0A0U1RQT0_HUMAN
Glutamine--tRNA ligase
QARS
342Annotation score:
H7C0R3H7C0R3_HUMAN
Glutamine--tRNA ligase
QARS
253Annotation score:
C9J165C9J165_HUMAN
Glutamine--tRNA ligase
QARS
339Annotation score:
A0A1B0GVU9A0A1B0GVU9_HUMAN
Glutamine--tRNA ligase
QARS
736Annotation score:
A0A0U1RR66A0A0U1RR66_HUMAN
Glutamine--tRNA ligase
QARS
173Annotation score:
A0A1B0GTT3A0A1B0GTT3_HUMAN
Glutamine--tRNA ligase
QARS
169Annotation score:
A0A0U1RQQ5A0A0U1RQQ5_HUMAN
Glutamine--tRNA ligase
QARS
194Annotation score:
A0A0U1RQJ6A0A0U1RQJ6_HUMAN
Glutamine--tRNA ligase
QARS
96Annotation score:
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07118945G → V in MSCCA; results in reduced glutaminyl-tRNA aminoacylation activity; does not affect interaction with RARS. 2 PublicationsCorresponds to variant dbSNP:rs587777331EnsemblClinVar.1
Natural variantiVAR_07119057Y → H in MSCCA; results in reduced glutaminyl-tRNA aminoacylation activity; does not affect interaction with RARS. 2 PublicationsCorresponds to variant dbSNP:rs587777333EnsemblClinVar.1
Natural variantiVAR_071191403R → W in MSCCA; results in loss of glutaminyl-tRNA aminoacylation activity; impairs protein folding; does not interact with RARS; results in reduced protein solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777332EnsemblClinVar.1
Natural variantiVAR_071192515R → W in MSCCA; results in loss of glutaminyl-tRNA aminoacylation activity; impairs protein folding; results in reduced protein solubility. 2 PublicationsCorresponds to variant dbSNP:rs587777334EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05510778 – 89SKKIH…PQLSA → T in isoform 2. 1 PublicationAdd BLAST12

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76013 mRNA Translation: CAA53600.1
AK301559 mRNA Translation: BAG63054.1
AC135506 Genomic DNA No translation available.
BC000394 mRNA Translation: AAH00394.1
BC001567 mRNA Translation: AAH01567.1
BC029739 mRNA Translation: AAH29739.1
CCDSiCCDS2788.1 [P47897-1]
CCDS63633.1 [P47897-2]
PIRiI37422
RefSeqiNP_001259002.1, NM_001272073.1 [P47897-2]
NP_005042.1, NM_005051.2 [P47897-1]
UniGeneiHs.79322

Genome annotation databases

EnsembliENST00000306125; ENSP00000307567; ENSG00000172053 [P47897-1]
ENST00000414533; ENSP00000390015; ENSG00000172053 [P47897-2]
GeneIDi5859
KEGGihsa:5859
UCSCiuc003cvx.5 human [P47897-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X76013 mRNA Translation: CAA53600.1
AK301559 mRNA Translation: BAG63054.1
AC135506 Genomic DNA No translation available.
BC000394 mRNA Translation: AAH00394.1
BC001567 mRNA Translation: AAH01567.1
BC029739 mRNA Translation: AAH29739.1
CCDSiCCDS2788.1 [P47897-1]
CCDS63633.1 [P47897-2]
PIRiI37422
RefSeqiNP_001259002.1, NM_001272073.1 [P47897-2]
NP_005042.1, NM_005051.2 [P47897-1]
UniGeneiHs.79322

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4R3ZX-ray4.03C1-775[»]
4YE6X-ray2.40A1-775[»]
4YE8X-ray3.30A1-775[»]
4YE9X-ray2.70A1-775[»]
ProteinModelPortaliP47897
SMRiP47897
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111797, 196 interactors
CORUMiP47897
IntActiP47897, 111 interactors
MINTiP47897
STRINGi9606.ENSP00000307567

Chemistry databases

BindingDBiP47897
ChEMBLiCHEMBL3054
DrugBankiDB00130 L-Glutamine

Protein family/group databases

MoonProtiP47897

PTM databases

iPTMnetiP47897
PhosphoSitePlusiP47897
SwissPalmiP47897

Polymorphism and mutation databases

DMDMi1351170

Proteomic databases

EPDiP47897
MaxQBiP47897
PaxDbiP47897
PeptideAtlasiP47897
PRIDEiP47897
ProteomicsDBi55816

Protocols and materials databases

DNASUi5859
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306125; ENSP00000307567; ENSG00000172053 [P47897-1]
ENST00000414533; ENSP00000390015; ENSG00000172053 [P47897-2]
GeneIDi5859
KEGGihsa:5859
UCSCiuc003cvx.5 human [P47897-1]

Organism-specific databases

CTDi5859
DisGeNETi5859
EuPathDBiHostDB:ENSG00000172053.15
GeneCardsiQARS
HGNCiHGNC:9751 QARS
HPAiHPA036986
HPA036987
MalaCardsiQARS
MIMi603727 gene
615760 phenotype
neXtProtiNX_P47897
OpenTargetsiENSG00000172053
Orphaneti404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
PharmGKBiPA34093
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1148 Eukaryota
COG0008 LUCA
GeneTreeiENSGT00550000074972
HOGENOMiHOG000259233
HOVERGENiHBG000889
InParanoidiP47897
KOiK01886
OMAiVTHSICT
OrthoDBiEOG091G026F
PhylomeDBiP47897
TreeFamiTF105683

Enzyme and pathway databases

ReactomeiR-HSA-2408517 SeMet incorporation into proteins
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-379726 Mitochondrial tRNA aminoacylation

Miscellaneous databases

ChiTaRSiQARS human
GeneWikiiQARS
GenomeRNAii5859
PROiPR:P47897
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000172053 Expressed in 233 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_QARS
ExpressionAtlasiP47897 baseline and differential
GenevisibleiP47897 HS

Family and domain databases

Gene3Di2.40.240.10, 3 hits
3.40.50.620, 1 hit
InterProiView protein in InterPro
IPR001412 aa-tRNA-synth_I_CS
IPR004514 Gln-tRNA-synth
IPR007638 Gln-tRNA-synth_Ib_RNA-bd_2
IPR007639 Gln-tRNA-synth_Ib_RNA-bd_N
IPR000924 Glu/Gln-tRNA-synth
IPR020058 Glu/Gln-tRNA-synth_Ib_cat-dom
IPR020059 Glu/Gln-tRNA-synth_Ib_codon-bd
IPR020056 Rbsml_L25/Gln-tRNA_synth_N
IPR011035 Ribosomal_L25/Gln-tRNA_synth
IPR014729 Rossmann-like_a/b/a_fold
PfamiView protein in Pfam
PF00749 tRNA-synt_1c, 1 hit
PF03950 tRNA-synt_1c_C, 1 hit
PF04558 tRNA_synt_1c_R1, 1 hit
PF04557 tRNA_synt_1c_R2, 1 hit
PRINTSiPR00987 TRNASYNTHGLU
SUPFAMiSSF50715 SSF50715, 1 hit
TIGRFAMsiTIGR00440 glnS, 1 hit
PROSITEiView protein in PROSITE
PS00178 AA_TRNA_LIGASE_I, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSYQ_HUMAN
AccessioniPrimary (citable) accession number: P47897
Secondary accession number(s): B4DWJ2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: February 1, 1996
Last modified: October 10, 2018
This is version 187 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  4. SIMILARITY comments
    Index of protein domains and families
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  7. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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