AARS1 Gene Summary [Human]
The human alanyl-tRNA synthetase (AARS) belongs to a family of tRNA synthases, of the class II enzymes. Class II tRNA synthases evolved early in evolution and are highly conserved. This is reflected by the fact that 498 of the 968-residue polypeptide human AARS shares 41% identity witht the E.coli protein. tRNA synthases are the enzymes that interpret the RNA code and attach specific aminoacids to the tRNAs that contain the cognate trinucleotide anticodons. They consist of a catalytic domain which interacts with the amino acid acceptor-T psi C helix of the tRNA, and a second domain which interacts with the rest of the tRNA structure. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | AARS1 |
| Official Name | alanyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:20] |
| Ensembl ID | ENSG00000090861 |
| Bio databases IDs | |
| Aliases | alanyl-tRNA synthetase 1, alanine tRNA ligase 1, cytoplasmic |
| Synonyms | AARS, Alanine--tRNA ligase, ALANYL-TRNA SYNTHETASE, alanyl-tRNA synthetase 1, CMT2N, DEE29, EIEE29, HDLS2, PL-12, sti, TTD8 |
| 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 AARS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tRNA binding
- alanine-tRNA ligase
- class_II_aaRS-like_core
- DHHA1 domain
- alanine--tRNA ligase
- ATP binding
- Threonyl and Alanyl tRNA synthetase second additional domain
- enzyme
- tRNA synthetases class II (A)
- protein binding
- amino acid binding
- phosphoric ester bond forming ligase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- osteoarthritis
- Charcot-Marie-Tooth disease type 2
- early infantile epileptic encephalopathy type 29
- Charcot-Marie-Tooth disease axonal type 2N
- small cell lung cancer
- hereditary disorder
- organismal death
- Swedish type hereditary diffuse leukoencephalopathy with spheroids
- nonphotosensitive trichothiodystrophy type 8
- non-small cell lung cancer
regulates
- tRNA-Ala
- L-serine
- MTORC1
- glycine
- alpha-amino-beta-methylaminopropionate
role in cell
- activation in
- apoptosis
- growth
- survival
- cell survival
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
- Nucleus
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AARS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cerebellar Purkinje cell layer development
- tRNA aminoacylation for protein translation
- tRNA processing
- alanyl-tRNA aminoacylation
- neuron apoptotic process
- neuromuscular process controlling balance
- tRNA modification
- negative regulation of neuron apoptotic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- zinc ion binding
- alanine-tRNA ligase activity
- aminoacyl-tRNA editing activity
- Ser-tRNA(Ala) hydrolase activity
- amino acid binding
- tRNA binding