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Aliases for QARS Gene

Aliases for QARS Gene

  • Glutaminyl-TRNA Synthetase 2 3 4 5
  • EC 6.1.1.18 4 61
  • GLNRS 3 4
  • Glutamine-TRNA Synthetase 3
  • Glutamine--TRNA Ligase 3
  • Glutamine TRNA Ligase 2
  • EC 6.1.1 61
  • PRO2195 3
  • MSCCA 3

External Ids for QARS Gene

Previous GeneCards Identifiers for QARS Gene

  • GC03P046968
  • GC03P048503
  • GC03M048987
  • GC03M049092
  • GC03M049108

Summaries for QARS Gene

Entrez Gene Summary for QARS 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 QARS Gene

QARS (Glutaminyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with QARS include Microcephaly, Progressive, Seizures, And Cerebral And Cerebellar Atrophy and Microcephaly. Among its related pathways are Viral mRNA Translation and Gene Expression. GO annotations related to this gene include nucleotide binding and ligase activity, forming aminoacyl-tRNA and related compounds.

UniProtKB/Swiss-Prot for QARS Gene

  • Plays a critical role in brain development.

Gene Wiki entry for QARS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for QARS Gene

Genomics for QARS Gene

Regulatory Elements for QARS Gene

Enhancers for QARS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G049338 1.9 FANTOM5 ENCODE dbSUPER 9.6 -240.9 -240915 14.7 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC AMT QRICH1 IMPDH2 DALRD3 RHOA WDR6 NICN1 USP4 ENSG00000230454 RHOA-IT1
GH03G049016 1.4 ENCODE dbSUPER 11.2 +84.9 84875 6.8 CREB3L1 AGO1 ZFP64 FEZF1 YY1 ZNF143 SP3 NFYC ZFP41 ZNF610 WDR6 AMT ENSG00000223343 QRICH1 CCDC71 P4HTM ENSG00000235236 ARIH2 QARS ARIH2OS
GH03G049217 1.3 Ensembl ENCODE 10.3 -113.5 -113547 2.1 FOXA2 MLX ZNF133 ARID4B DMAP1 ZNF48 GTF3C2 SLC30A9 FOS SP5 AMT WDR6 QRICH1 CCDC71 NME6 MRPS18AP1 ZNF589 SEMA3F-AS1 RHOA-IT1 CCDC36
GH03G048714 1.3 ENCODE dbSUPER 9.2 +388.7 388687 3.2 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 YBX1 YY1 ETS1 GLIS2 WDR6 NCKIPSD PRKAR2A PRKAR2A-AS1 QARS MST1 IP6K2
GH03G049320 1.2 FANTOM5 9.9 -216.0 -216020 0.6 HDGF MLX ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 SLC30A9 ZNF143 WDR6 C3orf62 NICN1 AMT LAMB2 CCDC71 KLHDC8B QARS USP4 IP6K1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around QARS on UCSC Golden Path with GeneCards custom track

Promoters for QARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000152184 235 1401 PKNOX1 ATF1 CREB3L1 ARID4B SIN3A DMAP1 ZNF48 YY1 ETS1 SLC30A9

Genomic Location for QARS Gene

Chromosome:
3
Start:
49,095,932 bp from pter
End:
49,105,135 bp from pter
Size:
9,204 bases
Orientation:
Minus strand

Genomic View for QARS Gene

Genes around QARS on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for QARS Gene

Proteins for QARS Gene

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

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

    Protein attributes for QARS Gene

    Size:
    775 amino acids
    Molecular mass:
    87799 Da
    Quaternary structure:
    • Part of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro. Interacts with RARS.

    Three dimensional structures from OCA and Proteopedia for QARS Gene

    Alternative splice isoforms for QARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for QARS Gene

Selected DME Specific Peptides for QARS Gene

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

Post-translational modifications for QARS Gene

  • Ubiquitination at Lys394, isoforms=2586, Lys601, and isoforms=2628
  • Modification sites at PhosphoSitePlus

Antibody Products

Domains & Families for QARS Gene

Gene Families for QARS 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 QARS: view

Function for QARS Gene

Molecular function for QARS Gene

GENATLAS Biochemistry:
glutamine-tRNA synthetase
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + L-glutamine + tRNA(Gln) = AMP + diphosphate + L-glutaminyl-tRNA(Gln).
UniProtKB/Swiss-Prot Function:
Plays a critical role in brain development.

Enzyme Numbers (IUBMB) for QARS Gene

Gene Ontology (GO) - Molecular Function for QARS Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with QARS: view
genes like me logo Genes that share phenotypes with QARS: view

Human Phenotype Ontology for QARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for QARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for QARS Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for QARS gene
Compartment Confidence
mitochondrion 5
cytosol 5

Gene Ontology (GO) - Cellular Components for QARS Gene

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

Pathways & Interactions for QARS Gene

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

Gene Ontology (GO) - Biological Process for QARS 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 IDA,IEA 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 QARS: view

No data available for SIGNOR curated interactions for QARS Gene

Drugs & Compounds for QARS Gene

(6) Drugs for QARS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Glutamine Approved, Investigational Nutra Full agonist, Agonist, Enzyme, substrate 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(7) Additional Compounds for QARS Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with QARS: view

Transcripts for QARS Gene

Unigene Clusters for QARS Gene

Glutaminyl-tRNA synthetase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e ^ 3a · 3b · 3c · 3d · 3e · 3f · 3g · 3h · 3i ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a ·
SP1: - - - - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - - - - -
SP5: - - - - - -
SP6: - - - - - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - - - - - - - -
SP13: - - - - - - - - - - - -
SP14: - - - - - - - - - - - - - -
SP15: - - - - - - - - - - - -
SP16:
SP17: - - - - - - - - - - - - - -
SP18: - - - - - - - - - - - - -
SP19: - - - - - - - - - -
SP20: - - - - - - -
SP21: - - -
SP22: - - - -
SP23: -
SP24:
SP25:

ExUns: 9b · 9c ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: - - -
SP8: - - -
SP9: - - -
SP10: - - -
SP11: - - -
SP12: - - -
SP13: - - -
SP14: -
SP15:
SP16: - - -
SP17: - - - - - -
SP18: - - -
SP19:
SP20:
SP21:
SP22: - - -
SP23:
SP24: - - - - - - - - - - - - - - - - - - - - - - - -
SP25:

ExUns: 27a · 27b ^ 28a · 28b ^ 29
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:
SP20:
SP21:
SP22:
SP23:
SP24: - - -
SP25:

Relevant External Links for QARS Gene

GeneLoc Exon Structure for
QARS
ECgene alternative splicing isoforms for
QARS

Expression for QARS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for QARS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for QARS Gene

This gene is overexpressed in Breast (9.1), Lymph node (8.9), and Salivary gland (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for QARS Gene



Protein tissue co-expression partners for QARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of QARS Gene:

QARS

SOURCE GeneReport for Unigene cluster for QARS Gene:

Hs.79322

mRNA Expression by UniProt/SwissProt for QARS 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.

Evidence on tissue expression from TISSUES for QARS Gene

  • Nervous system(5)
  • Lung(4.9)
  • Liver(4.8)
  • Intestine(4.4)
  • Kidney(4.4)
  • Skin(4.4)
  • Spleen(4.2)
  • Blood(3.8)
  • Eye(3.4)
  • Heart(2.9)
  • Adrenal gland(2.5)
  • Pancreas(2.4)
  • Muscle(2.3)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for QARS Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • outer ear
  • skull
General:
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with QARS: view

Primer Products

No data available for mRNA differential expression in normal tissues for QARS Gene

Orthologs for QARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for QARS Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia LOC100911132 34
  • 100 (n)
chimpanzee
(Pan troglodytes)
Mammalia QARS 34 35
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia QARS 34 35
  • 90.67 (n)
mouse
(Mus musculus)
Mammalia Qars 35
  • 90 (a)
OneToOne
cow
(Bos Taurus)
Mammalia QARS 34 35
  • 88.99 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia QARS 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia QARS 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves QARS 34 35
  • 74.86 (n)
lizard
(Anolis carolinensis)
Reptilia QARS 35
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia qars 34
  • 70.26 (n)
Str.745 34
African clawed frog
(Xenopus laevis)
Amphibia MGC69128 34
zebrafish
(Danio rerio)
Actinopterygii qars 34 35
  • 65.8 (n)
zgc56395 34
fruit fly
(Drosophila melanogaster)
Insecta Aats-gln 35 34 36
  • 61.21 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010267 34
  • 57.14 (n)
worm
(Caenorhabditis elegans)
Secernentea qars-1 34 35
  • 57.19 (n)
qrs-5 36
  • 56 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR259C 34
  • 50.94 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F20449g 34
  • 48.13 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GLN4 34 35 37
  • 47.52 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons OVA9 34
  • 51.47 (n)
rice
(Oryza sativa)
Liliopsida Os01g0185200 34
  • 52.37 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2986 35
  • 59 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07926 34
  • 55.01 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes qrs1 34
  • 50.45 (n)
Species where no ortholog for QARS 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 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 QARS Gene

ENSEMBL:
Gene Tree for QARS (if available)
TreeFam:
Gene Tree for QARS (if available)

Paralogs for QARS Gene

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

No data available for Paralogs for QARS Gene

Variants for QARS Gene

Sequence variations from dbSNP and Humsavar for QARS Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs587777331 Pathogenic, Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] 49,104,455(+) TGGAA(A/C)CCAGG nc-transcript-variant, reference, missense
rs587777332 Pathogenic, Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] 49,100,049(+) CATCC(A/G)TAGTG nc-transcript-variant, upstream-variant-2KB, reference, missense
rs587777333 Pathogenic, Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] 49,104,420(+) GCCAT(A/G)TAACA nc-transcript-variant, reference, missense
rs587777334 Pathogenic, Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) [MIM:615760] 49,099,415(+) GAGCC(A/G)TGGGT nc-transcript-variant, downstream-variant-500B, reference, missense
rs370934093 Likely pathogenic 49,098,369(+) GAGGC(A/G)AACCT nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for QARS Gene

Variant ID Type Subtype PubMed ID
nsv834686 CNV loss 17160897

Variation tolerance for QARS Gene

Residual Variation Intolerance Score: 7.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for QARS Gene

Human Gene Mutation Database (HGMD)
QARS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
QARS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QARS Gene

Disorders for QARS Gene

MalaCards: The human disease database

(2) MalaCards diseases for QARS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
  • microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
microcephaly
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
Search QARS 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for QARS

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
QARS
genes like me logo Genes that share disorders with QARS: view

No data available for Genatlas for QARS Gene

Publications for QARS 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. (Proc. Natl. Acad. Sci. U.S.A. 1994) 2 3 4 22 64
  2. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. (PMID: 24656866) Zhang X. … Nabbout R. (Am. J. Hum. Genet. 2014) 3 4 64
  3. Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-I+-acetylation features. (PMID: 22223895) Bienvenut W.V. … Giglione C. (Mol. Cell Proteomics 2012) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for QARS Gene

Sources for QARS Gene

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