IARS1 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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]
Details
| Type | Protein Coding |
| Official Symbol | IARS1 |
| Official Name | isoleucyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:5330] |
| Ensembl ID | ENSG00000196305 |
| Bio databases IDs | |
| Aliases | isoleucyl-tRNA synthetase 1, isoleucine tRNA ligase 1, cytoplasmic |
| Synonyms | 2510016L12RIK, E430001P04RIK, GRIDHH, IARS, Iarsl, ILERS, ILE TRNA SYNTHASE, ILRS, IRS, isoleucyl-tRNA synthetase 1, LOC103690033, OJ, PRO0785 |
| 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 IARS1 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 repeat
- Domain of unknown function (DUF5915)
- enzyme binding
- enzyme
- protein binding
- isoleucine-tRNA ligase
- valyl-tRNA synthetase
- tRNA synthetases class I (I, L, M and V)
- class Ia aminoacyl tRNA synthetases anticodon binding domain
- isoleucyl-tRNA synthetase
- leucyl-tRNA synthetase, eubacterial and mitochondrial family
- Anticodon-binding domain of tRNA ligase
- 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.
disease
- non-small cell lung cancer
- growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
- small cell lung cancer
- cleft palate
- malaria
- severe acute respiratory syndrome
role in cell
- activation in
- transmembrane potential
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
- cellular membrane
- cytosol
- nucleoplasm
- nuclear scaffolds
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human IARS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- isoleucyl-tRNA aminoacylation
- tRNA aminoacylation for protein translation
- osteoblast differentiation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
- aminoacyl-tRNA synthetase multienzyme complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- isoleucine-tRNA ligase activity
- GTPase binding
- aminoacyl-tRNA editing activity
- tRNA binding