KARS1 Gene Summary [Human]
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | KARS1 |
| Official Name | lysyl-tRNA synthetase 1 [Source:HGNC Symbol;Acc:HGNC:6215] |
| Ensembl ID | ENSG00000065427 |
| Bio databases IDs | |
| Aliases | lysyl-tRNA synthetase 1, lysine tRNA ligase |
| Synonyms | CMTRIB, D8Ertd698e, D8Wsu108e, DEAPLE, DFNB89, KARS, KARS2, KRS, LEPID, LYSRS, lysyl-tRNA synthetase 1, mKIAA0070 |
| 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 KARS1 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
- class_II_aaRS-like_core
- OB-fold nucleic acid binding domain
- tRNA synthetases class II (D, K and N)
- ATP binding
- enzyme
- protein binding
- ATP adenylyltransferase
- identical protein binding
- oligonucleotide/oligosaccharide-binding fold of replication protein A and class 2b aminoacyl-tRNA synthetases
- amino acid binding
- lysyl-tRNA synthetase, eukaryotic and non-spirochete bacterial
- EF-P lysine aminoacylase GenX
- protein homodimerization
- lysine-tRNA ligase
- nondiscriminating aspartyl-tRNA synthetase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- infantile-onset progressive leukoencephalopathy with or without deafness
- autosomal recessive deafness type 89
- Charcot-Marie-Tooth disease recessive intermediate type B
- hereditary disorder
- infantile-onset progressive leukoencephalopathy with deafness
- familial nonsyndromic hearing impairment
- autosomal recessive deafness
- breast cancer
- lung adenocarcinoma
- lung adenocarcinoma formation
role in cell
- migration
- activation
- activation in
- growth
- degradation in
- binding 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
- nuclear fraction
- Extracellular Space
- Nucleus
- Plasma Membrane
- Mitochondria
- cytosol
- mitochondrial matrix
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human KARS1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ERK1 and ERK2 cascade
- positive regulation of inflammatory response to antigenic stimulus
- response to X-ray
- tRNA processing
- positive regulation of transcription, DNA-dependent
- positive regulation of macrophage activation
- lysyl-tRNA aminoacylation
- diadenosine tetraphosphate biosynthetic process
- basophil activation involved in immune response
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- mitochondrial matrix
- mitochondrion
- cytosol
- aminoacyl-tRNA synthetase multienzyme complex
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- identical protein binding
- protein homodimerization activity
- ATP adenylyltransferase activity
- protein binding
- lysine-tRNA ligase activity
- amino acid binding
- tRNA binding