Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55278
Gene name Gene Name - the full gene name approved by the HGNC.
Glutaminyl-tRNA amidotransferase subunit QRSL1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
QRSL1
Synonyms (NCBI Gene) Gene synonyms aliases
COXPD40, GatA
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q21
SNPs SNP information provided by dbSNP.
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.
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 assay, qRT-PCR, Western blot 22499991
MIRT053342 hsa-miR-200b-3p Luciferase reporter assay, qRT-PCR, Western blot 22499991
MIRT619268 hsa-miR-7110-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
617209 21020 ENSG00000130348
Protein
UniProt ID 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
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, mitochondrial rs1562168768, rs763443331, rs1562169661 N/A
combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 40 rs947204455, rs1562168768, rs763443331, rs1777047446 N/A
Associations from Text Mining Disease 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