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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]
MARS1 (Methionyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with MARS1 include Interstitial Lung And Liver Disease and Charcot-Marie-Tooth Disease, Axonal, Type 2U. Among its related pathways are tRNA Aminoacylation and One carbon pool by folate. An important paralog of this gene is VARS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000049 | tRNA binding | IEA | -- |
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO:0004812 | aminoacyl-tRNA ligase activity | IEA | -- |
GO:0004825 | methionine-tRNA ligase activity | IEA,TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005730 | nucleolus | IDA | 10791971 |
GO:0005737 | cytoplasm | IDA | 10791971 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Metabolism |
.40
|
|
3 | Viral mRNA Translation | ||
4 | Selenocompound metabolism | ||
5 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006418 | tRNA aminoacylation for protein translation | IEA,TAS | -- |
GO:0006431 | methionyl-tRNA aminoacylation | IEA,IDA | 11714285 |
GO:0009267 | cellular response to starvation | IDA | 10791971 |
GO:0009303 | rRNA transcription | IMP | 10791971 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Methionine | Approved | Nutra | Enzyme, substrate | 118 | ||
Phosphoric acid | Approved | Pharma | 0 | |||
Selenomethionine | Approved, Investigational | 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 | MARS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MARS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MARS 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mars 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Mars 30 31 |
|
OneToOne | |
Mars1 17 |
|
||||
Platypus (Ornithorhynchus anatinus) |
Mammalia | MARS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MARS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MARS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mars 30 |
|
||
Str.16107 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC69150 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mars 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007891 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG15100 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | mars-1 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AGR332C 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MES1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A09647g 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os10g0400100 30 |
|
||
Barley (Hordeum vulgare) |
Liliopsida | Hv.795 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2777 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07451 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rar1 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.55 30 |
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635457 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u | 57,516,518(+) | G/C | MISSENSE_VARIANT | |
641147 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,515,024(+) | C/T | MISSENSE_VARIANT | |
646980 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,515,225(+) | G/A | MISSENSE_VARIANT | |
648138 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,516,556(+) | C/T | MISSENSE_VARIANT | |
654957 | Uncertain Significance: Charcot-Marie-Tooth disease, axonal, type 2u; Interstitial lung and liver disease | 57,500,507(+) | T/G | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2651n54 | CNV | loss | 21841781 |
esv1408918 | CNV | insertion | 17803354 |
esv2759901 | CNV | gain | 17122850 |
esv3419248 | CNV | duplication | 20981092 |
nsv1071035 | CNV | deletion | 25765185 |
nsv1144629 | CNV | deletion | 24896259 |
nsv428283 | CNV | gain | 18775914 |
nsv469411 | CNV | loss | 19166990 |
nsv482992 | CNV | gain+loss | 15286789 |
nsv559034 | CNV | loss | 21841781 |
nsv819781 | CNV | loss | 19587683 |
Disorder | Aliases | PubMed IDs |
---|---|---|
interstitial lung and liver disease |
|
|
charcot-marie-tooth disease, axonal, type 2u |
|
|
pulmonary alveolar proteinosis |
|
|
autosomal recessive spastic paraplegia type 70 |
|
|
charcot-marie-tooth disease |
|
|