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Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined. [provided by RefSeq, Jul 2008]
EPRS1 (Glutamyl-Prolyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with EPRS1 include Leukodystrophy, Hypomyelinating, 15 and Microcephaly-Short Stature-Intellectual Disability-Facial Dysmorphism Syndrome. Among its related pathways are tRNA Aminoacylation and Parkinsons Disease Pathway. An important paralog of this gene is QARS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003723 | RNA binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004812 | aminoacyl-tRNA ligase activity | IEA | -- |
GO:0004818 | glutamate-tRNA ligase activity | IEA,TAS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 10791971 |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IEA,ISS | -- |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0017101 | aminoacyl-tRNA synthetase multienzyme complex | IBA,IDA | 10791971 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Metabolism |
.40
|
|
3 | Viral mRNA Translation | ||
4 | tRNA processing |
.55
|
|
5 | Porphyrin and chlorophyll metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006417 | regulation of translation | IEA | -- |
GO:0006418 | tRNA aminoacylation for protein translation | IEA,TAS | -- |
GO:0006424 | glutamyl-tRNA aminoacylation | IEA | -- |
GO:0006433 | prolyl-tRNA aminoacylation | IDA | 24100331 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Glutamic acid | Approved | Nutra | Agonist, Full agonist, Target | 304 | ||
Famotidine | Approved | Pharma | Histamine H2-receptor antagonist | 82 | ||
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
5'-O-(L-Cysteinylsulfamoyl)adenosine | Experimental | Pharma | Target | 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 | EPRS 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPRS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPRS 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Eprs 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Eprs 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | EPRS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EPRS 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EPRS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | eprs 30 |
|
||
Str.1851 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21378 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | eprs 30 31 |
|
OneToOne | |
wufb06c03 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.14111 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | ears-1 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GUS1 30 31 |
|
OneToOne | |
-- 33 |
|
|
|||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0A00682g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFR264W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G26710 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.5281 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0271200 30 |
|
||
Os.6059 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.4312 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.3156 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.11263 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPAC17A5.15c 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08894 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.14752 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
715899 | Benign: not provided | 220,018,462(-) | G/A | MISSENSE_VARIANT | |
716061 | Benign: not provided | 219,979,542(-) | G/A | MISSENSE_VARIANT | |
728847 | Likely Benign: not provided | 219,988,790(-) | A/T | MISSENSE_VARIANT | |
789955 | Benign: not provided | 219,988,587(-) | A/G | INTRON_VARIANT | |
789956 | Benign: not provided | 220,024,321(-) | C/G | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukodystrophy, hypomyelinating, 15 |
|
|
microcephaly-short stature-intellectual disability-facial dysmorphism syndrome |
|
|
microcephaly, progressive, with seizures and cerebral and cerebellar atrophy |
|
|
hypomyelinating leukodystrophy |
|
|
leukodystrophy |
|
|