MARS1 Gene Summary [Human]
This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. The encoded protein is a component of the multi-tRNA synthetase complex and catalyzes the ligation of methionine to tRNA molecules. [provided by RefSeq, Jan 2011]
Details
| Type | Processed Transcript |
| Official Symbol | MARS1 |
| Official Name | methionyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:6898] |
| Ensembl ID | ENSG00000166986 |
| Bio databases IDs | |
| Aliases | methionyl-tRNA synthetase 1, methionine tRNA ligase 1, cytoplasmic |
| Synonyms | CMT2U, ILFS2, ILLD, MARS, methionine-tRNA synthetase 1, methionyl-tRNA synthetase 1, METRS, MRS, MTRNS, SPG70, TTD9 |
| 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 MARS1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Glutathione S-transferase, C-terminal domain
- Glutathione S-transferase, N-terminal domain
- C-terminal, alpha helical domain of the Glutathione S-transferase family
- Anticodon binding domain of methionyl tRNA ligase
- S15_NS1_EPRS_RNA-bind
- methionine--tRNA ligase
- enzyme
- protein binding
- valyl-tRNA synthetase
- class Ia aminoacyl tRNA synthetases anticodon binding domain
- WHEP-TRS domain
- methionine-tRNA ligase
- Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
- WHEP-TRS
- tRNA synthetases class I (M)
- 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
- Charcot-Marie-Tooth disease
- interstitial lung and liver disease
- Charcot-Marie-Tooth disease axonal type 2U
- autosomal recessive spastic paraplegia type 70
- insulin-dependent diabetes mellitus
- non-small cell lung cancer
- pulmonary alveolar proteinosis
- group 3 medulloblastoma
- brain cancer
- nonphotosensitive trichothiodystrophy type 9
role in cell
- translation in
- dissociation 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
- polyribosome fractions
- Nucleus
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MARS1 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
- cellular response to platelet-derived growth factor stimulus
- cellular response to epidermal growth factor stimulus
- methionyl-tRNA aminoacylation
- rRNA transcription
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
- aminoacyl-tRNA synthetase multienzyme complex
- nucleolus
Molecular Function
What the gene product does at the molecular level
- ATP binding
- methionine-tRNA ligase activity
- tRNA binding