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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy, mitochondrial Likely pathogenic; Pathogenic rs1562168768, rs763443331, rs1562169661 RCV000684831
RCV000684830
RCV000684832
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined oxidative phosphorylation deficiency 40 Likely pathogenic; Pathogenic rs1562168768, rs763443331, rs1777047446, rs947204455 RCV001035464
RCV001035459
RCV001035457
RCV001035458
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM ORIGIN VERTIGO GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL VERTIGO GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
QRSL1-related disorder Benign; Likely benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 9114595
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 11964310
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 16607277
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 17654061 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Sideroblastic Sideroblastic anemia Pubtator 23935018 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Valve Insufficiency Aortic Valve Insufficiency BEFREE 19684615
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 17654061
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 11589343 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 27344332
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 29671873
★☆☆☆☆
Found in Text Mining only