QARS1

Protein identityUniProt · HPA

UniProt accession

P47897

Gene

QARS1

Ensembl

ENSG00000172053

Chromosome

3

Canonical length

775 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

775 residues, UniProt reviewed canonical sequence.

>P47897|QARS1
     1  MAALDSLSLF TSLGLSEQKA RETLKNSALS AQLREAATQA QQTLGSTIDK ATGILLYGLA
    61  SRLRDTRRLS FLVSYIASKK IHTEPQLSAA LEYVRSHPLD PIDTVDFERE CGVGVIVTPE
   121  QIEEAVEAAI NRHRPQLLVE RYHFNMGLLM GEARAVLKWA DGKMIKNEVD MQVLHLLGPK
   181  LEADLEKKFK VAKARLEETD RRTAKDVVEN GETADQTLSL MEQLRGEALK FHKPGENYKT
   241  PGYVVTPHTM NLLKQHLEIT GGQVRTRFPP EPNGILHIGH AKAINFNFGY AKANNGICFL
   301  RFDDTNPEKE EAKFFTAICD MVAWLGYTPY KVTYASDYFD QLYAWAVELI RRGLAYVCHQ
   361  RGEELKGHNT LPSPWRDRPM EESLLLFEAM RKGKFSEGEA TLRMKLVMED GKMDPVAYRV
   421  KYTPHHRTGD KWCIYPTYDY THCLCDSIEH ITHSLCTKEF QARRSSYFWL CNALDVYCPV
   481  QWEYGRLNLH YAVVSKRKIL QLVATGAVRD WDDPRLFTLT ALRRRGFPPE AINNFCARVG
   541  VTVAQTTMEP HLLEACVRDV LNDTAPRAMA VLESLRVIIT NFPAAKSLDI QVPNFPADET
   601  KGFHQVPFAP IVFIERTDFK EEPEPGFKRL AWGQPVGLRH TGYVIELQHV VKGPSGCVES
   661  LEVTCRRADA GEKPKAFIHW VSQPLMCEVR LYERLFQHKN PEDPTEVPGG FLSDLNLASL
   721  HVVDAALVDC SVALAKPFDK FQFERLGYFS VDPDSHQGKL VFNRTVTLKE DPGKV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against QARS1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.27

Highest tissue expression

146 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about QARS1.

Disease | AllUniProt

Conditions QARS1 is implicated in, by any mechanism.

• Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy (MSCCA) MIM:615760

Disease | GeneticClinVar

70 pathogenic / likely-pathogenic of 1,074 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
• QARS1-related disorder
• Intellectual disability, autosomal dominant 43
• Ovarian serous cystadenocarcinoma
• Thymoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.81

gnomAD pLI

0

DepMap mean gene effect

-1.68

DepMap dependency class

pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• brain development
• glutaminyl-tRNA aminoacylation
• negative regulation of apoptotic signaling pathway
• negative regulation of DNA-templated transcription
• negative regulation of stress-activated MAPK cascade
• tRNA aminoacylation for protein translation

Molecular functions

• ATP binding
• glutamine-tRNA ligase activity
• protein kinase binding
• protein kinase inhibitor activity

Cellular components

• aminoacyl-tRNA synthetase multienzyme complex
• cytoplasm
• cytosol
• mitochondrial matrix
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Glutamyl/glutaminyl-tRNA synthetase
• Aminoacyl-tRNA synthetase, class I, conserved site
• Large ribosomal subunit protein bL25/Gln-tRNA synthetase, anti-codon-binding domain superfamily
• Rossmann-like alpha/beta/alpha sandwich fold
• Large ribosomal subunit protein bL25/Gln-tRNA synthetase, N-terminal
• Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain
• Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain
• tRNA synthetases class I (E and Q), anti-codon binding domain
• tRNA synthetases class I (E and Q), catalytic domain
• tRNA synthetases class I (E and Q), anti-codon binding domain
• tRNA synthetases class I (E and Q), anti-codon binding domain
• Glutamine-tRNA synthetase
• Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain 2
• Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal
• Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal, subdomain 1
• Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal, subdomain 2
• Glutamine/Glutamate--tRNA Ligase
• Glutaminyl-tRNA synthetase, non-specific RNA binding region part 2
• Glutaminyl-tRNA synthetase, non-specific RNA binding region part 1

KeywordsUniProt

• Acetylation
• Aminoacyl-tRNA synthetase
• ATP-binding
• Cytoplasm
• Epilepsy
• Ligase
• Nucleotide-binding
• Phosphoprotein
• Primary microcephaly
• Protein biosynthesis

InteractionsUniProt · HPA

Protein binding partners of QARS1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RARS1
• AIMP1
• AIMP2
• CALCOCO2
• DARS1
• EEF1E1
• EPRS1
• IARS1
• LARS1
• MARS1
• RNF11
• TRAF2
• ZRANB1