LARS1 Gene Summary [Human]
This gene encodes a cytosolic leucine-tRNA synthetase, a member of the class I aminoacyl-tRNA synthetase family. The encoded enzyme catalyzes the ATP-dependent ligation of L-leucine to tRNA(Leu). It is found in the cytoplasm as part of a multisynthetase complex and interacts with the arginine tRNA synthetase through its C-terminal domain. A mutation in this gene was found in affected individuals with infantile liver failure syndrome 1. Alternatively spliced transcript variants of this gene have been observed. [provided by RefSeq, Dec 2015]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | LARS1 |
| Official Name | leucyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:6512] |
| Ensembl ID | ENSG00000133706 |
| Bio databases IDs | |
| Aliases | leucyl-tRNA synthetase 1, leucine tRNA ligase 1, cytoplasmic |
| Synonyms | 2310045K21Rik, 3110009L02Rik, cLRS, hr025Cl, HSPC192, ILFS1, KIAA1352, LARS, leucyl-tRNA synthetase 1, LEURS, LEUS, LFIS, LRS, PIG44, RNTLS |
| 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 LARS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- leucyl-tRNA synthetase, archaeal and cytosolic family
- glutamine-tRNA ligase
- GTPase activator
- enzyme
- protein binding
- leucine-tRNA ligase
- valyl-tRNA synthetase
- Anticodon-binding domain of tRNA ligase
- nucleotidyl transferase superfamily
- tRNA synthetases class I (I, L, M and V)
- class Ia aminoacyl tRNA synthetases anticodon binding domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- breast cancer
- transient infantile liver failure
- acute myeloid leukemia
- infantile liver failure syndrome type 1
- infection by HIV-1
regulates
- tRNA-Leu
- MTORC1
- GTPase
role in cell
- activation in
- response by
- size
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
- endomembrane system
- lysosome
- Endoplasmic Reticulum
- cytosol
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LARS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- leucyl-tRNA aminoacylation
- cellular response to amino acid stimulus
- tRNA aminoacylation for protein translation
- cellular response to leucine
- cellular response to amino acid starvation
- regulation of cell size
- glutaminyl-tRNA aminoacylation
- positive regulation of TOR signaling cascade
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- nuclear body
- cytoplasm
- endomembrane system
- cytosol
- endoplasmic reticulum
- aminoacyl-tRNA synthetase multienzyme complex
- lysosome
Molecular Function
What the gene product does at the molecular level
- ATP binding
- leucine-tRNA ligase activity
- protein binding
- GTPase activator activity
- aminoacyl-tRNA editing activity
- glutamine-tRNA ligase activity