QARS1 glutaminyl-tRNA synthetase 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: QARS1provided by HGNC
Official Full Name: glutaminyl-tRNA synthetase 1provided by HGNC
Primary source: HGNC:HGNC:9751
See related: Ensembl:ENSG00000172053 MIM:603727; AllianceGenome:HGNC:9751
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: QARS; GLNRS; MSCCA; PRO2195
Summary: 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]
Expression: Ubiquitous expression in colon (RPKM 48.6), skin (RPKM 46.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (49095932..49104757, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (49124001..49132830, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (49133365..49142190, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
Title: [QARS1 gene related glutaminyl-tRNA synthetase deficiency syndrome: report of three cases and a review of literature].
patient's fibroblasts demonstrated markedly reduced QARS amino acylation activity in vitro
Title: Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
hcmv-miR-US4-1 may involve in promoting cell apoptosis and benefiting discharge of infectious virus particles via down-regulation of QARS in HCMV-infected HELF cells.
Title: Human cytomegalovirus-encoded miR-US4-1 promotes cell apoptosis and benefits discharge of infectious virus particles by targeting QARS.
Pathological mutations mapping in the N-terminal domain alter the domain structure, and decrease catalytic activity and stability of GlnRS, whereas missense mutations in the catalytic domain induce misfolding of the enzyme.
Title: The crystal structure of human GlnRS provides basis for the development of neurological disorders.
Data indicate compound heterozygous mutations [c.169T>C (p.Tyr57His) and c.1485dup (p.Lys496*)] in QARS, which encodes glutaminyl-tRNA synthetase, in two siblings with early-onset epileptic encephalopathy (EOEE).
Title: Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy.
interactions between the N-terminal domains of ArgRS and AIMP1 are important for the catalytic and noncatalytic activities of ArgRS and for the assembly of the higher-order MSC protein complex with ArgRS-GlnRS-AIMP1
Title: Structure of the ArgRS-GlnRS-AIMP1 complex and its implications for mammalian translation.
results highlight the importance of QARS during brain development and that epilepsy due to impairment of QARS activity is unusually severe in comparison to other aminoacyl-tRNA synthetase disorders
Title: Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Data indicate that glutaminyl-tRNA synthetase splice variant GlnRSDeltaiABD was present in exosomes extruded from Jurkat cells and functional in protein synthesis.
Title: Regulated capture by exosomes of mRNAs for cytoplasmic tRNA synthetases.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome MedGen: C4014239 OMIM: 615760 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Interaction of HIV-1 Gag with glutaminyl-tRNA synthetase (QARS) is identified in a series of six affinity purification/mass spectrometry screens	PubMed
matrix	gag	HIV-1 MA is identified to have a physical interaction with glutaminyl-tRNA synthetase (QARS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-76928 (e-PCR)
- UniSTS:65833

RH78464 (e-PCR)
- UniSTS:27806

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables glutamine-tRNA ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutamine-tRNA ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables glutamine-tRNA ligase activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase inhibitor activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glutaminyl-tRNA aminoacylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in glutaminyl-tRNA aminoacylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of stress-activated MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA aminoacylation for protein translation	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
part_of aminoacyl-tRNA synthetase multienzyme complex	IBA Inferred from Biological aspect of Ancestor more info
part_of aminoacyl-tRNA synthetase multienzyme complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: glutamine--tRNA ligase

Names: glutamine-tRNA synthetase

NP_001259002.1

EC 6.1.1.18

NP_005042.1

EC 6.1.1.18

XP_016862454.2

EC 6.1.1.18

XP_054203387.1

EC 6.1.1.18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042312.1 RefSeqGene

Range

5373..14198

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001272073.2 → NP_001259002.1 glutamine--tRNA ligase isoform b

See identical proteins and their annotated locations for NP_001259002.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter compared to isoform a.

Source sequence(s)

AK301559, BC000394

Consensus CDS

CCDS63633.1

UniProtKB/TrEMBL

A8K3A8

Related

ENSP00000390015.1, ENST00000414533.5

Conserved Domains (5) summary

PLN02859
Location:6 → 763

PLN02859; glutamine-tRNA ligase

cd00807
Location:252 → 556

GlnRS_core; catalytic core domain of glutaminyl-tRNA synthetase

pfam03950
Location:554 → 741

tRNA-synt_1c_C; tRNA synthetases class I (E and Q), anti-codon binding domain

pfam04557
Location:154 → 245

tRNA_synt_1c_R2; Glutaminyl-tRNA synthetase, non-specific RNA binding region part 2

pfam04558
Location:10 → 151

tRNA_synt_1c_R1; Glutaminyl-tRNA synthetase, non-specific RNA binding region part 1
NM_005051.3 → NP_005042.1 glutamine--tRNA ligase isoform a

See identical proteins and their annotated locations for NP_005042.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (a).

Source sequence(s)

BC000394, BM560535

Consensus CDS

CCDS2788.1

UniProtKB/Swiss-Prot

B4DWJ2, P47897

UniProtKB/TrEMBL

A8K3A8

Related

ENSP00000307567.6, ENST00000306125.12

Conserved Domains (5) summary

PLN02859
Location:6 → 774

PLN02859; glutamine-tRNA ligase

cd00807
Location:263 → 567

GlnRS_core; catalytic core domain of glutaminyl-tRNA synthetase

pfam03950
Location:565 → 752

tRNA-synt_1c_C; tRNA synthetases class I (E and Q), anti-codon binding domain

pfam04557
Location:165 → 256

tRNA_synt_1c_R2; Glutaminyl-tRNA synthetase, non-specific RNA binding region part 2

pfam04558
Location:10 → 162

tRNA_synt_1c_R1; Glutaminyl-tRNA synthetase, non-specific RNA binding region part 1

RNA

NR_073590.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AK056815, BC000394, BC001567

Related

ENST00000430182.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

49095932..49104757 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017006965.3 → XP_016862454.2 glutamine--tRNA ligase isoform X1

UniProtKB/TrEMBL

A8K3A8

Conserved Domains (1) summary

cl27212
Location:6 → 732

GlnS; Glutamyl- or glutaminyl-tRNA synthetase [Translation, ribosomal structure and biogenesis]