QARS1 Gene Summary [Human]
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Details
| Type | Retained Intron |
| Official Symbol | QARS1 |
| Official Name | glutaminyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:9751] |
| Ensembl ID | ENSG00000172053 |
| Bio databases IDs | |
| Aliases | glutaminyl-tRNA synthetase 1, glutamine tRNA ligase |
| Synonyms | 1110018N24Rik, 1200016L19Rik, GLNRS, GLUTAMINYL TRANSSYNTHASE, glutaminyl-tRNA synthetase 1, MSCCA, PRO2195, QARS, RGD1562301, RPI1-A11 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human QARS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- protein kinase binding
- glutamyl-tRNA synthetase, archaeal and eukaryotic family
- protein kinase inhibitor activity
- glutaminyl-tRNA synthetase
- enzyme
- protein binding
- RNA binding
- tRNA synthetases class I (E and Q), anti-codon binding domain
- tRNA synthetases class I (E and Q), catalytic domain
- Glutaminyl-tRNA synthetase, non-specific RNA binding region part 2
- glutamine-tRNA ligase
- Glutaminyl-tRNA synthetase, non-specific RNA binding region part 1
- nucleotidyl transferase superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
disease
- progressive microcephaly with seizures and cerebral and cerebellar atrophy
- microcephaly
- hereditary disorder
- Burkitt lymphoma
- B-cell non-Hodgkin disease
- mature B-cell neoplasia
- autosomal dominant mental retardation type 43
phenotypes
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
- Microcephaly progressive with seizures and cerebral and cerebellar atrophy
- Microcephaly progressive seizures and cerebral and cerebellar atrophy
role in cell
- apoptosis
- translation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- detergent resistant lipid raft fraction
- Nucleus
- cytosol
- mitochondrial matrix
- nuclear scaffolds
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human QARS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA aminoacylation for protein translation
- negative regulation of transcription, DNA-dependent
- negative regulation of stress-activated MAPK cascade
- brain development
- glutaminyl-tRNA aminoacylation
- negative regulation of protein kinase activity
- negative regulation of apoptotic signaling pathway
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrial matrix
- cytosol
- macromolecular complex
- aminoacyl-tRNA synthetase multienzyme complex
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- ATP binding
- protein binding
- glutamine-tRNA ligase activity
- protein kinase inhibitor activity