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QRSL1 glutaminyl-tRNA amidotransferase subunit QRSL1 [ Homo sapiens (human) ]

Gene ID: 55278, updated on 11-Apr-2024

Summary

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Official Symbol
QRSL1provided by HGNC
Official Full Name
glutaminyl-tRNA amidotransferase subunit QRSL1provided by HGNC
Primary source
HGNC:HGNC:21020
See related
Ensembl:ENSG00000130348 MIM:617209; AllianceGenome:HGNC:21020
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GatA; COXPD40
Summary
Enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 40. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 7.2), thyroid (RPKM 5.6) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
6q21
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (106629578..106668417)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (107806065..107844870)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (107077453..107116292)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene crystallin beta-gamma domain containing 1 Neighboring gene uncharacterized LOC101927405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:106957727-106958332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:106959060-106960018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24889 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17433 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:106967140-106968339 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:107023180-107023700 Neighboring gene MPRA-validated peak6003 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:107033226-107033920 Neighboring gene reticulon 4 interacting protein 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:107061294-107061801 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:107062309-107062815 Neighboring gene RNA, U6 small nuclear 527, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24893 Neighboring gene ribosomal protein L21 pseudogene 65 Neighboring gene uncharacterized LOC105377927 Neighboring gene long intergenic non-protein coding RNA 2526

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease. Kamps R, et al. Eur J Hum Genet, 2018 Apr. PMID 29440775, Free PMC Article
  2. Biogenesis of glutaminyl-mt tRNAGln in human mitochondria. Nagao A, et al. Proc Natl Acad Sci U S A, 2009 Sep 22. PMID 19805282, Free PMC Article
  3. Inhibition of the Mitochondrial Protease ClpP as a Therapeutic Strategy for Human Acute Myeloid Leukemia. Cole A, et al. Cancer Cell, 2015 Jun 8. PMID 26058080, Free PMC Article
  4. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. Vieira AR, et al. Genet Med, 2008 Sep. PMID 18978678, Free PMC Article
  5. Conserved Mitotic Phosphorylation of a Proteasome Subunit Regulates Cell Proliferation. Duan J, et al. Cells, 2021 Nov 8. PMID 34831298, Free PMC Article

See all (28) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Homozygous intronic variant (c.850-3A > G) in the QRSL1 was identified in a child with cardiomyopathy with early-onset brain disease.
    Title: Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
  2. Studies showed in vitro Gln-tRNA(Gln) formation catalyzed by the recombinant mtGluRS and hGatCAB.
    Title: Biogenesis of glutaminyl-mt tRNAGln in human mitochondria.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

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
Combined oxidative phosphorylation deficiency 40
MedGen: C5394232 OMIM: 618835 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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10989, FLJ12189, FLJ13447, DKFZp564C1278

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in glutaminyl-tRNAGln biosynthesis via transamidation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glutaminyl-tRNAGln biosynthesis via transamidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial translation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of protein stability IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of glutamyl-tRNA(Gln) amidotransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of glutamyl-tRNA(Gln) amidotransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of glutamyl-tRNA(Gln) amidotransferase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial
Names
QRSL1, glutaminyl-tRNA amidotransferase subunit A
glu-AdT subunit A
glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
glutaminyl-tRNA synthase-like protein 1
glutamyl-tRNA(Gln) amidotransferase subunit A homolog
glutamyl-tRNA(Gln) amidotransferase, subunit A
NP_060762.3
XP_011534226.1
XP_054211756.1

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.

mRNA and Protein(s)

  1. NM_018292.5 → NP_060762.3  glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

    See identical proteins and their annotated locations for NP_060762.3

    Status: VALIDATED

    Source sequence(s)
    AL390074, BC014389, DA819470
    Consensus CDS
    CCDS5057.1
    UniProtKB/Swiss-Prot
    Q5VWJ4, Q9H0R6, Q9HA60, Q9NV19
    UniProtKB/TrEMBL
    B2RBJ8
    Related
    ENSP00000358042.4, ENST00000369046.8
    Conserved Domains (1) summary
    PRK00012
    Location:13 → 495
    gatA; aspartyl/glutamyl-tRNA amidotransferase subunit A; Reviewed

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    106629578..106668417
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535924.3 → XP_011534226.1  glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial isoform X1

    See identical proteins and their annotated locations for XP_011534226.1

    UniProtKB/TrEMBL
    B2RBJ8
    Conserved Domains (1) summary
    PRK00012
    Location:1 → 404
    gatA; Asp-tRNA(Asn)/Glu-tRNA(Gln) amidotransferase subunit GatA

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    107806065..107844870
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355781.1 → XP_054211756.1  glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0R6.2 GenPept UniProtKB/Swiss-Prot:Q9H0R6

Gene LinkOut

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