Free for academic non-profit institutions. Other users need a Commercial license
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]
KARS1 (Lysyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with KARS1 include Charcot-Marie-Tooth Disease, Recessive Intermediate B and Deafness, Autosomal Recessive 89. Among its related pathways are tRNA Aminoacylation and Viral mRNA Translation. An important paralog of this gene is DARS2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000049 | tRNA binding | IBA,NAS | 10952987 |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003877 | ATP adenylyltransferase activity | IDA | 23159739 |
GO:0004812 | aminoacyl-tRNA ligase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005615 | extracellular space | IDA | 15851690 |
GO:0005634 | nucleus | IBA,IDA | 23159739 |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IBA,IDA | 10952987 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Viral mRNA Translation | ||
3 | Translational Control | ||
4 | Gene Expression |
.48
|
|
5 | Metabolism |
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000187 | activation of MAPK activity | IDA | 15851690 |
GO:0002276 | basophil activation involved in immune response | IBA,IGI | 19524539 |
GO:0002720 | positive regulation of cytokine production involved in immune response | IDA | 15851690 |
GO:0002741 | positive regulation of cytokine secretion involved in immune response | IDA | -- |
GO:0006412 | translation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
D-Lysine | Approved, Experimental | Nutra | Agonist, Full agonist, Target | 0 | ||
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KARS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KARS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KARS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Kars 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kars 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | KARS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KARS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KARS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kars 30 |
|
||
Str.3042 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | kars 30 31 |
|
OneToOne | |
Dr.28209 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000325 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Aats-lys 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | kars-1 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR037C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F18392g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | KRS1 30 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | ATKRS-1 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os03g0586800 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.10812 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.4293 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.6555 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
CSA.665 31 |
|
OneToMany | |||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | krs1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU04020 30 |
|
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
637488 | Uncertain Significance: Charcot-Marie-Tooth disease | 75,636,494(-) | G/GAA | FRAMESHIFT_VARIANT | |
637712 | Uncertain Significance: Charcot-Marie-Tooth disease | 75,634,266(-) | G/C | MISSENSE_VARIANT | |
666703 | Likely Benign: not specified | 75,631,231(-) | A/G | SYNONYMOUS_VARIANT | |
666840 | Uncertain Significance: not specified | 75,631,250(-) | G/A | MISSENSE_VARIANT | |
667251 | Uncertain Significance: not specified | 75,631,436(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1065543 | CNV | loss | 25217958 |
nsv472233 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease, recessive intermediate b |
|
|
deafness, autosomal recessive 89 |
|
|
lactic acidosis |
|
|
optic nerve disease |
|
|
non-syndromic genetic deafness |
|
|