Gene Gene information from NCBI Gene database.
Entrez ID 55278
Gene name Glutaminyl-tRNA amidotransferase subunit QRSL1
Gene symbol QRSL1
Synonyms (NCBI Gene)
COXPD40GatA
Chromosome 6
Chromosome location 6q21
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs763443331 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
rs1562168768 G>T Pathogenic Missense variant, coding sequence variant
rs1562169661 CCAGAAATCC>ACAAAAATCA Pathogenic Missense variant, coding sequence variant
rs1562173313 GC>TT Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
459
miRTarBase ID miRNA Experiments Reference
MIRT032250 hsa-let-7b-5p Proteomics 18668040
MIRT039213 hsa-miR-769-5p CLASH 23622248
MIRT053342 hsa-miR-200b-3p Luciferase reporter assayqRT-PCRWestern blot 22499991
MIRT053342 hsa-miR-200b-3p Luciferase reporter assayqRT-PCRWestern blot 22499991
MIRT619268 hsa-miR-7110-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0005515 Function Protein binding IPI 19805282, 28514442, 33961781
GO:0005524 Function ATP binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617209 21020 ENSG00000130348
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0R6
Protein name Glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial (Glu-AdT subunit A) (EC 6.3.5.7) (Glutaminyl-tRNA synthase-like protein 1)
Protein 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).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01425 Amidase 22 488 Amidase Family
Sequence
Sequence length 528
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Aminoacyl-tRNA biosynthesis
Metabolic pathways
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy, mitochondrial Likely pathogenic; Pathogenic rs1562168768, rs763443331, rs1562169661 RCV000684831
RCV000684830
RCV000684832
Combined oxidative phosphorylation deficiency 40 Likely pathogenic; Pathogenic rs1562168768, rs763443331, rs1777047446, rs947204455 RCV001035464
RCV001035459
RCV001035457
RCV001035458
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
QRSL1-related disorder Benign; Likely benign; Uncertain significance rs34221917, rs2015205, rs150607276, rs118029715, rs79895740, rs139097179, rs138471223, rs146630103, rs144191952, rs142361530, rs112965704, rs2482537830, rs374376224, rs56974135 RCV003980673
RCV003975810
RCV003941308
RCV003978724
RCV003903408
RCV003953963
RCV003963332
RCV003916601
RCV003961172
RCV003926504
RCV003943646
RCV003394511
RCV003939087
RCV003910639
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Aplastic Associate 17654061
Anemia Sideroblastic Associate 23935018
Asthma Associate 11589343
Brain Diseases Associate 29440775
Breast Neoplasms Associate 28423734
Carcinogenesis Associate 37779141
Carcinoma Renal Cell Associate 36961416
Cardiomyopathies Associate 29440775, 30283131
Colorectal Neoplasms Associate 10675566, 32533792
Emanuel syndrome Associate 11964310