Aliases for QRSL1 Gene

Aliases for QRSL1 Gene

  • Glutaminyl-TRNA Amidotransferase Subunit QRSL1 2 3 5
  • Glutamyl-TRNA(Gln) Amidotransferase Subunit A, Mitochondrial 3 4
  • Glutaminyl-TRNA Synthase (Glutamine-Hydrolyzing)-Like 1 2 3
  • QRSL1, Glutaminyl-TRNA Amidotransferase Subunit A 2 3
  • Glutamyl-TRNA(Gln) Amidotransferase, Subunit A 2 3
  • Glutaminyl-TRNA Synthase-Like Protein 1 3 4
  • Glu-AdT Subunit A 3 4
  • GatA 2 3
  • Glutamyl-TRNA(Gln) Amidotransferase Subunit A Homolog 3
  • DKFZP564C1278 2
  • EC 4
  • FLJ10989 2
  • FLJ12189 2
  • FLJ13447 2
  • COXPD40 3
  • QRSL1 5
  • GATA 2

External Ids for QRSL1 Gene

Previous GeneCards Identifiers for QRSL1 Gene

  • GC06P107077
  • GC06P107123
  • GC06P107185
  • GC06P104524

Summaries for QRSL1 Gene

GeneCards Summary for QRSL1 Gene

QRSL1 (Glutaminyl-TRNA Amidotransferase Subunit QRSL1) is a Protein Coding gene. Diseases associated with QRSL1 include Combined Oxidative Phosphorylation Deficiency 40 and Qrsl1-Related Combined Oxidative Phosphorylation Defect. Among its related pathways are Metabolism and tRNA Aminoacylation. Gene Ontology (GO) annotations related to this gene include carbon-nitrogen ligase activity, with glutamine as amido-N-donor and glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. An important paralog of this gene is FAAH.

UniProtKB/Swiss-Prot Summary for QRSL1 Gene

  • Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).

Additional gene information for QRSL1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for QRSL1 Gene

Genomics for QRSL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for QRSL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J106628 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 672.2 0.0 -15 2.9 ZNF221 SP1 CREB1 GATAD2A ZNF629 SIX5 POLR2A NFRKB FOS FOXA1 QRSL1 NONHSAG044508.2 RTN4IP1 CRYBG1 piR-38852-008
GH06J106666 Enhancer 0.9 Ensembl ENCODE dbSUPER 44.3 +38.4 38422 3.6 POLR2A NFE2 ZNF316 MAFF MAFK MAFG IKZF1 JUNB BATF EBF1 QRSL1 lnc-QRSL1-3 RPL21P65 RTN4IP1 CD24
GH06J106590 Enhancer 0.7 Ensembl ENCODE dbSUPER 42.9 -38.1 -38112 2.1 FOXA1 CEBPB JUND QRSL1 RTN4IP1 MIR587 LINC02532 lnc-CRYBG1-1 RF00026-956 RNU6-527P CRYBG1
GH06J106701 Enhancer 1.1 Ensembl ENCODE 27.3 +73.7 73722 6.2 GATAD2A TFE3 RCOR2 FOXA1 STAT3 PRDM1 RELA RXRB TCF12 IRF2 LOC105377927 lnc-QRSL1-2 QRSL1 RTN4IP1 LINC02532 MIR587 RF00017-5700 lnc-QRSL1-4 CD24
GH06J106556 Enhancer 1.1 Ensembl ENCODE dbSUPER 25.2 -69.1 -69078 8.6 GATAD2A CTCF TFE3 SOX13 RCOR2 FOXA1 RXRB REST RAD21 CEBPA QRSL1 ATG5 RTN4IP1 lnc-ATG5-4 LOC101927405 CRYBG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around QRSL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for QRSL1

Top Transcription factor binding sites by QIAGEN in the QRSL1 gene promoter:
  • COUP
  • COUP-TF1
  • CREB
  • deltaCREB
  • GATA-3
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx2-5

Genomic Locations for QRSL1 Gene

Genomic Locations for QRSL1 Gene
38,840 bases
Plus strand
38,852 bases
Plus strand

Genomic View for QRSL1 Gene

Genes around QRSL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
QRSL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for QRSL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for QRSL1 Gene

Proteins for QRSL1 Gene

  • Protein details for QRSL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • Q5VWJ4
    • Q9HA60
    • Q9NV19

    Protein attributes for QRSL1 Gene

    528 amino acids
    Molecular mass:
    57460 Da
    Quaternary structure:
    • Subunit of the heterotrimeric GatCAB amidotransferase (AdT) complex, composed of A (QRSL1), B (GATB) and C (GATC) subunits.

    Alternative splice isoforms for QRSL1 Gene


neXtProt entry for QRSL1 Gene

Post-translational modifications for QRSL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for QRSL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for QRSL1 Gene

Domains & Families for QRSL1 Gene

Gene Families for QRSL1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for QRSL1 Gene

  • Amidase

Suggested Antigen Peptide Sequences for QRSL1 Gene

GenScript: Design optimal peptide antigens:
  • Glutaminyl-tRNA synthase-like protein 1 (QRSL1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the amidase family. GatA subfamily.
  • Belongs to the amidase family. GatA subfamily.
genes like me logo Genes that share domains with QRSL1: view

Function for QRSL1 Gene

Molecular function for QRSL1 Gene

UniProtKB/Swiss-Prot Function:
Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O + L-glutamine + L-glutamyl-tRNA(Gln) = ADP + H(+) + L-glutamate + L-glutaminyl-tRNA(Gln) + phosphate; Xref=Rhea:RHEA:17521, Rhea:RHEA-COMP:9681, Rhea:RHEA-COMP:9684, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:58359, ChEBI:CHEBI:78520, ChEBI:CHEBI:78521, ChEBI:CHEBI:456216; EC=; Evidence={ECO:0000255|HAMAP-Rule:MF_03150};.

Enzyme Numbers (IUBMB) for QRSL1 Gene

Phenotypes From GWAS Catalog for QRSL1 Gene

Gene Ontology (GO) - Molecular Function for QRSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004040 amidase activity IEA --
GO:0005515 protein binding IPI 19805282
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with QRSL1: view
genes like me logo Genes that share phenotypes with QRSL1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for QRSL1

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QRSL1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for QRSL1 Gene

Localization for QRSL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for QRSL1 Gene


Subcellular locations from

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 QRSL1 gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for QRSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 19805282
GO:0030956 glutamyl-tRNA(Gln) amidotransferase complex IBA,IDA 19805282
genes like me logo Genes that share ontologies with QRSL1: view

Pathways & Interactions for QRSL1 Gene

PathCards logo

SuperPathways for QRSL1 Gene

genes like me logo Genes that share pathways with QRSL1: view

Pathways by source for QRSL1 Gene

2 KEGG pathways for QRSL1 Gene

Gene Ontology (GO) - Biological Process for QRSL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0031647 regulation of protein stability IEA --
GO:0032543 mitochondrial translation IBA,IMP 19805282
GO:0070681 glutaminyl-tRNAGln biosynthesis via transamidation IBA,IDA 19805282
genes like me logo Genes that share ontologies with QRSL1: view

No data available for SIGNOR curated interactions for QRSL1 Gene

Drugs & Compounds for QRSL1 Gene

(4) Drugs for QRSL1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Glutamic acid Approved Nutra Agonist, Full agonist 304
L-Glutamine Approved, Investigational Nutra Agonist, Full agonist 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for QRSL1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with QRSL1: view

Transcripts for QRSL1 Gene

mRNA/cDNA for QRSL1 Gene

10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for QRSL1

Alternative Splicing Database (ASD) splice patterns (SP) for QRSL1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
SP1: - -
SP2: -
SP3: -
SP4: -

Relevant External Links for QRSL1 Gene

GeneLoc Exon Structure for

Expression for QRSL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for QRSL1 Gene

Protein differential expression in normal tissues from HIPED for QRSL1 Gene

This gene is overexpressed in Heart (39.9), Plasma (13.3), and Lung (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for QRSL1 Gene

Protein tissue co-expression partners for QRSL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for QRSL1

SOURCE GeneReport for Unigene cluster for QRSL1 Gene:


Evidence on tissue expression from TISSUES for QRSL1 Gene

  • Nervous system(4.8)
  • Bone marrow(2.4)
  • Heart(2.3)
  • Muscle(2.2)
  • Liver(2.2)
  • Intestine(2.2)
  • Skin(2.2)
  • Blood(2.2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with QRSL1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for QRSL1 Gene

Orthologs for QRSL1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for QRSL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia QRSL1 30 31
  • 99.62 (n)
(Canis familiaris)
Mammalia QRSL1 30 31
  • 91.46 (n)
(Bos Taurus)
Mammalia QRSL1 30 31
  • 89.86 (n)
(Mus musculus)
Mammalia Qrsl1 30 17 31
  • 84.99 (n)
(Rattus norvegicus)
Mammalia Qrsl1 30
  • 83.91 (n)
(Ornithorhynchus anatinus)
Mammalia QRSL1 31
  • 78 (a)
(Monodelphis domestica)
Mammalia QRSL1 31
  • 65 (a)
(Gallus gallus)
Aves QRSL1 30 31
  • 75.51 (n)
(Anolis carolinensis)
Reptilia QRSL1 31
  • 78 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia qrsl1 30
  • 70.75 (n)
African clawed frog
(Xenopus laevis)
Amphibia qrsl1-prov 30
(Danio rerio)
Actinopterygii qrsl1 30 31
  • 65.76 (n)
Dr.12246 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004057 30
  • 55.53 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta gatA 30 31
  • 54.5 (n)
(Caenorhabditis elegans)
Secernentea Y41D4A.6 30 31
  • 54.08 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A09845g 30
  • 46.39 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HER2 30 31 33
  • 45.81 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR140C 30
  • 44.62 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G25660 30
  • 48.34 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC646.03 30
  • 45.9 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00660 30
  • 45.63 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 16 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13009 30
Species where no ortholog for QRSL1 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 (Oryza sativa)
  • 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 QRSL1 Gene

Gene Tree for QRSL1 (if available)
Gene Tree for QRSL1 (if available)
Evolutionary constrained regions (ECRs) for QRSL1: view image

Paralogs for QRSL1 Gene

Paralogs for QRSL1 Gene Pseudogenes for QRSL1 Gene

genes like me logo Genes that share paralogs with QRSL1: view

Variants for QRSL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for QRSL1 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
720366 Benign: not provided 106,640,893(+) G/A SYNONYMOUS_VARIANT
rs1562168768 Pathogenic: Cardiomyopathy, mitochondrial; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40 106,649,042(+) G/T MISSENSE_VARIANT
rs1562169661 Pathogenic: Cardiomyopathy, mitochondrial 106,652,238(+) CCAGAAATCC/ACAAA MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for QRSL1 Gene

Structural Variations from Database of Genomic Variants (DGV) for QRSL1 Gene

Variant ID Type Subtype PubMed ID
esv3610281 CNV loss 21293372
nsv1114860 CNV deletion 24896259
nsv1124109 CNV deletion 24896259
nsv1142470 CNV tandem duplication 24896259
nsv516902 CNV loss 19592680
nsv970157 CNV duplication 23825009

Variation tolerance for QRSL1 Gene

Residual Variation Intolerance Score: 38.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.66; 72.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for QRSL1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for QRSL1 Gene

Disorders for QRSL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for QRSL1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 40
  • coxpd40
qrsl1-related combined oxidative phosphorylation defect
  • qrsl1-related coxpd
  • psittacosis
lymphogranuloma venereum
  • climatic or tropical bubo
granuloma inguinale
  • donovanosis
- elite association - COSMIC cancer census association via MalaCards
Search QRSL1 in MalaCards View complete list of genes associated with diseases


  • Note=Defects in QRSL1 may play a role in mitochondrial disorders characterized by combined respiratory chain complex deficiencies. {ECO:0000269 PubMed:26741492}.

Additional Disease Information for QRSL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with QRSL1: view

No data available for Genatlas for QRSL1 Gene

Publications for QRSL1 Gene

  1. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. (PMID: 19805282) Nagao A … Suzuki T (Proceedings of the National Academy of Sciences of the United States of America 2009) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4

Products for QRSL1 Gene

  • Signalway ELISA kits for QRSL1

Sources for QRSL1 Gene