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This gene encodes a member of a multienzyme complex that functions in mediating the attachment of amino acids to their cognate tRNAs. The encoded protein ligates L-aspartate to tRNA(Asp). Mutations in this gene have been found in patients showing hypomyelination with brainstem and spinal cord involvement and leg spasticity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
DARS1 (Aspartyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with DARS1 include Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity and Spasticity. Among its related pathways are Viral mRNA Translation and tRNA Aminoacylation. An important paralog of this gene is NARS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IBA | 21873635 |
GO:0004046 | aminoacylase activity | TAS | 8449960 |
GO:0004812 | aminoacyl-tRNA ligase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,TAS | 8449960 |
GO:0005829 | cytosol | TAS | -- |
GO:0016020 | membrane | HDA | 19946888 |
GO:0017101 | aminoacyl-tRNA synthetase multienzyme complex | IBA,IDA | 19131329 |
GO:0045202 | synapse | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA Aminoacylation | ||
2 | Viral mRNA Translation | ||
3 | Gene Expression |
.48
|
|
4 | Metabolism |
.40
|
|
5 | Alanine and aspartate metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA,TAS | 8449960 |
GO:0006418 | tRNA aminoacylation for protein translation | IEA,TAS | -- |
GO:0006422 | aspartyl-tRNA aminoacylation | IEA,IBA | 21873635 |
GO:0065003 | protein-containing complex assembly | TAS | 8449960 |
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 | DARS 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DARS 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DARS 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DARS 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dars 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dars 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | DARS 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DARS 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DARS 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dars 30 |
|
||
MGC76305 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | dars-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dars 30 31 |
|
OneToOne | |
wufc17a11 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Aats-asp 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005576 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | dars-1 30 31 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D03839g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DPS1 30 31 33 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL039C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G31180 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10065 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.1067 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0686400 30 |
|
||
Os.12716 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.2597 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.14416 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.3547 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9554 31 |
|
OneToOne | |
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | drs1 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07082 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6166 30 |
|
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
982592 | Uncertain Significance: Hypomyelination with brainstem and spinal cord involvement and leg spasticity | 135,920,567(-) |
T/G NM_001349.4(DARS1):c.845A>C (p.His282Pro) |
MISSENSE | |
rs1057521361 | Likely Benign: not specified | 135,961,518(-) |
C/A NM_001349.4(DARS1):c.218-20G>T |
INTRON | |
rs1060499772 | Likely Pathogenic: Abnormality of brain morphology | 135,943,412(-) |
C/G NM_001349.4(DARS1):c.389G>C (p.Cys130Ser) |
MISSENSE | |
rs112205661 | Likely Benign: not specified | 135,920,590(-) |
C/T NM_001349.4(DARS1):c.822G>A (p.Ala274=) |
SYNONYMOUS | |
rs115253602 | Benign: not specified | 135,911,121(-) |
G/A NM_001349.4(DARS1):c.1414+18C>T |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
hypomyelination with brainstem and spinal cord involvement and leg spasticity |
|
|
spasticity |
|
|
supraglottis neoplasm |
|
|
combined oxidative phosphorylation deficiency 12 |
|
|
cowpox |
|
|