CARS1 Gene Summary [Human]
This gene encodes a class 1 aminoacyl-tRNA synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | CARS1 |
| Official Name | cysteinyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:1493] |
| Ensembl ID | ENSG00000110619 |
| Bio databases IDs | |
| Aliases | cysteinyl-tRNA synthetase 1, cysteine tRNA ligase 1, cytoplasmic |
| Synonyms | CA3, CARS, CYSRS, cysteinyl-tRNA synthetase 1, MCDDBH, MDBH, MGC:11246 |
| 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 CARS1 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
- cysteine--1-D-myo-inosityl 2-amino-2-deoxy-alpha-D-glucopyranoside ligase
- cysteinyl-tRNA synthetase
- C-terminal, alpha helical domain of the Glutathione S-transferase family
- ATP binding
- protein homodimerization
- enzyme
- protein binding
- cysteine-tRNA ligase
- identical protein binding
- tRNA synthetases class I (C) catalytic domain
- 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
- diabetic nephropathy
- microcephaly, developmental delay, and brittle hair syndrome
- abdominal aortic aneurysm
- non-small cell lung cancer
- small cell lung cancer
regulates
- L-cysteine
- tRNA-Cys
role in cell
- cell viability
- josamycin sensitivity
- 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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CARS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cysteinyl-tRNA aminoacylation
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- protein binding
- metal ion binding
- cysteine-tRNA ligase activity
- tRNA binding