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

    Gene ID: 55278, updated on 10-Dec-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
    Contributes to 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, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 7.2), thyroid (RPKM 5.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See QRSL1 in Genome Data Viewer
    Location:
    6q21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (106629578..106668417)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (107806065..107844870)
    RS_2024_09 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

    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 (30) 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)

    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
    		  
    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 
    located_in mitochondrion HTP 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_2024_08

    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

      UniProtKB/TrEMBL
      B2RBJ8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0R6.2 GenPept UniProtKB/Swiss-Prot:Q9H0R6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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