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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 va... See more...
Aliases for DARS1 Gene
Aliases for DARS1 Gene
External Ids for DARS1 Gene
- HGNC: 2678
- NCBI Entrez Gene: 1615
- Ensembl: ENSG00000115866
- OMIM®: 603084
- UniProtKB/Swiss-Prot: P14868
Previous HGNC Symbols for DARS1 Gene
- DARS
Summaries for DARS1 Gene
-
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]
GeneCards Summary for DARS1 Gene
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.
UniProtKB/Swiss-Prot Summary for DARS1 Gene
-
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
Additional gene information for DARS1 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DARS1 Gene
Genomics for DARS1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DARS1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DARS1
Genomic Locations for DARS1 Gene
Latest Assembly
- chr2:135,905,881-135,986,100
- (GRCh38/hg38)
- Size:
- 80,220 bases
- Orientation:
- Minus strand
Previous Assembly
- chr2:136,663,451-136,743,254
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 79,804 bases
- Orientation:
- Minus strand
Genomic View for DARS1 Gene
Genes around DARS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q21.3 by HGNC
- 2q21.3 by Entrez Gene
- 2q21.3 by Ensembl
DARS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DARS1 Gene
Proteins for DARS1 Gene
-
Protein details for DARS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P14868-SYDC_HUMAN
- Recommended name:
- Aspartate--tRNA ligase, cytoplasmic
- Protein Accession:
- P14868
- A8K3J2
- D3DP77
- Q2TNI3
- Q32Q69
- Q53HV4
- Q53YC5
- Q68CR9
- Q9BW52
Protein attributes for DARS1 Gene
- Size:
- 501 amino acids
- Molecular mass:
- 57136 Da
- Quaternary structure:
-
- Homodimer (PubMed:23609930). Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464).
Selected DME Specific Peptides for DARS1 Gene
- P14868:
-
- PPHAGGGIGLERV
- PKIISAASE
- DLSTPNEKLLG
- IGPVFRAE
- QSPQLYK
- CFLVLRQ
- FPRDPKRL
- DAAEDYAKERYG
- FMRGEEI
- DTRLDNR
Post-translational modifications for DARS1 Gene
Other Protein References for DARS1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences DARS Monoclonal Antibody and DARS Antibody
- GeneTex Anti-DARS antibody and Anti-DARS antibody [N1C1]
-
Custom Antibody ServicesOriGene Antibodies for DARS1
- Novus Biologicals Antibodies for DARS1
-
Abcam antibodies for DARS1
- Invitrogen Antibodies for DARS1 (AFLGC-DARS1)
-
Boster Bio Antibodies for DARS1
-
Custom Antibody ServicesProSci Antibodies for DARS1
- Sino Biological Antibodies for DARS1
Protein products for research
-
OriGene Purified Proteins for DARS1
- Search Origene for MassSpec and Protein Over-expression Lysates for DARS1
- Origene Custom Protein Services for DARS1
- Sino Biological Recombinant Proteins for DARS1
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for DARS1
- antibodies-online: Show 10 available DARS Proteins ranked by validation data
- Compare Top DARS Proteins
-
Quality Products:
-
Abcam proteins for DARS1
Assay products for research
- antibodies-online: Search results for available DARS related products ranked by validation data
Domains & Families for DARS1 Gene
Gene Families for DARS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Plasma proteins
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for DARS1 Gene
- InterPro:
- Blocks:
-
- Aspartyl-tRNA synthetase signature
- tRNA synthetase, class II (D, K and N)
- OB-fold nucleic acid binding domain
Suggested Antigen Peptide Sequences for DARS1 Gene
- GenScript: Design optimal peptide antigens:
-
- Aspartyl-tRNA synthetase, isoform CRA_b (D3DP78_HUMAN)
- Cell proliferation-inducing gene 40 protein (SYDC_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P14868UniProtKB/Swiss-Prot:
SYDC_HUMAN :- Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily.
- Family:
-
- Belongs to the class-II aminoacyl-tRNA synthetase family. Type 2 subfamily.
Function for DARS1 Gene
Molecular function for DARS1 Gene
- UniProtKB/Swiss-Prot Function:
- Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp); Xref=Rhea:RHEA:19649, Rhea:RHEA-COMP:9660, Rhea:RHEA-COMP:9678, ChEBI:CHEBI:29991, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:78442, ChEBI:CHEBI:78516, ChEBI:CHEBI:456215; EC=6.1.1.12; Evidence={ECO:0000250|UniProtKB:P15178};.
Enzyme Numbers (IUBMB) for DARS1 Gene
Phenotypes From GWAS Catalog for DARS1 Gene
| 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 | -- |
Phenotypes for DARS1 Gene
- MGI mutant phenotypes for DARS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DARS1:
-
- shRNA abundance <= 50%
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- Decreased viability ratio
- Increased transferrin (TF) endocytosis
- Decreased viability
- Decreased vaccinia virus (VACV) infection
- Increased ionizing radiation sensitivity
- Increased shRNA abundance (Z-score > 2)
- Decreased POU5F1-GFP protein expression
- Decreased viability after ionizing radiation
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DARS1 - Starting at $85 >
- * DARS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DARS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DARS1
miRNA for DARS1 Gene
- miRTarBase miRNAs that target DARS1
-
- hsa-miR-651-5p (MIRT628910)
- hsa-miR-7977 (MIRT628911)
- hsa-miR-4266 (MIRT628912)
- hsa-miR-342-3p (MIRT628913)
- hsa-miR-383-3p (MIRT628914)
- hsa-miR-1228-3p (MIRT628915)
- hsa-miR-4779 (MIRT628916)
- hsa-miR-4695-5p (MIRT628917)
- hsa-miR-1305 (MIRT659179)
- hsa-miR-607 (MIRT659180)
- hsa-miR-3671 (MIRT659181)
- hsa-miR-627-3p (MIRT659182)
- hsa-miR-3691-3p (MIRT659183)
- hsa-miR-5584-5p (MIRT659184)
- hsa-miR-6873-5p (MIRT659185)
- hsa-miR-1264 (MIRT659186)
- hsa-miR-1972 (MIRT673803)
- hsa-miR-6513-5p (MIRT673804)
- hsa-miR-887-5p (MIRT673805)
- hsa-miR-3913-5p (MIRT673806)
- hsa-miR-3122 (MIRT673807)
- hsa-miR-450a-1-3p (MIRT673808)
- hsa-miR-5089-5p (MIRT673809)
- hsa-miR-6728-5p (MIRT673810)
- hsa-miR-769-3p (MIRT673811)
- hsa-miR-450b-3p (MIRT673812)
- hsa-miR-4726-5p (MIRT673813)
- hsa-miR-4640-5p (MIRT673814)
- hsa-miR-5187-5p (MIRT673815)
- hsa-miR-24-3p (MIRT673816)
- hsa-miR-4284 (MIRT673817)
- hsa-miR-4755-3p (MIRT673818)
- hsa-miR-4673 (MIRT673819)
- hsa-miR-4645-5p (MIRT673820)
- hsa-miR-5693 (MIRT673821)
- hsa-miR-6715b-5p (MIRT673822)
- hsa-miR-4269 (MIRT673823)
- hsa-miR-3681-3p (MIRT673824)
- hsa-miR-216a-3p (MIRT673825)
- hsa-miR-128-3p (MIRT673826)
- hsa-miR-6895-5p (MIRT673827)
- hsa-miR-5582-5p (MIRT673828)
- hsa-miR-4692 (MIRT704362)
- hsa-miR-4514 (MIRT704363)
- hsa-miR-1182 (MIRT783092)
- hsa-miR-1207-5p (MIRT783130)
- hsa-miR-129-5p (MIRT783471)
- hsa-miR-1304-5p (MIRT783711)
- hsa-miR-1827 (MIRT783962)
- hsa-miR-215-3p (MIRT784233)
- hsa-miR-4763-3p (MIRT786657)
- hsa-miR-6765-5p (MIRT788617)
- hsa-miR-6773-3p (MIRT788647)
- hsa-miR-6808-5p (MIRT788866)
- hsa-miR-6812-3p (MIRT788894)
- hsa-miR-6893-5p (MIRT789361)
- hsa-miR-8055 (MIRT789662)
- hsa-miR-940 (MIRT789994)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DARS1
- Browse OriGene Inhibitory RNA Products For DARS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DARS1
Clone products for research
- Applied Biological Materials (abm): Clones for DARS1 - Starting at $45 >
- * DARS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208055
- MG217423
- MR208055
- MR208055L3
- MR208055L4
- MR217423
- MR217423L3
- MR217423L4
- RC200391
- RC200391L1
- RC200391L2
- RC200391L3
- RC200391L4
- RC237990
- RG200391
- RR207016
- RR207016L3
- RR207016L4
- MR208055L3V
- MR208055L4V
- MR217423L3V
- MR217423L4V
- RC200391L1V
- RC200391L2V
- RC200391L3V
- RC200391L4V
- RR207016L3V
- RR207016L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DARS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DARS1
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DARS1 Gene
Localization for DARS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DARS1 Gene
- Cytoplasm, cytosol.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| extracellular | 4 |
| nucleus | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Cytosol (4)
| 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 | -- |
Pathways & Interactions for DARS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA Aminoacylation | ||
| 2 | Viral mRNA Translation | ||
| 3 | Gene Expression |
.48
|
|
| 4 | Metabolism |
.40
|
|
| 5 | Alanine and aspartate metabolism | ||
Pathways by source for DARS1 Gene
1 BioSystems pathway for DARS1 Gene
7 Reactome pathways for DARS1 Gene
1 KEGG pathway for DARS1 Gene
Interacting Proteins for DARS1 Gene
Selected Interacting proteins:
P14868-SYDC_HUMAN
ENSP00000264161
for DARS1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for DARS1
| 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 |
No data available for SIGNOR curated interactions for DARS1 Gene
Drugs & Compounds for DARS1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for DARS1 Gene
mRNA/cDNA for DARS1 Gene
- 2 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264161 3099 nts (view in UCSC)
- ENST00000422708 623 nts (view in UCSC)
- ENST00000435076 717 nts (view in UCSC)
- ENST00000441323 651 nts (view in UCSC)
- ENST00000449218 543 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DARS1 - Starting at $85 >
- * DARS1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DARS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DARS1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DARS1
- Browse OriGene Inhibitory RNA Products For DARS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DARS1
Clone products for research
- Applied Biological Materials (abm): Clones for DARS1 - Starting at $45 >
- * DARS1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG208055
- MG217423
- MR208055
- MR208055L3
- MR208055L4
- MR217423
- MR217423L3
- MR217423L4
- RC200391
- RC200391L1
- RC200391L2
- RC200391L3
- RC200391L4
- RC237990
- RG200391
- RR207016
- RR207016L3
- RR207016L4
- MR208055L3V
- MR208055L4V
- MR217423L3V
- MR217423L4V
- RC200391L1V
- RC200391L2V
- RC200391L3V
- RC200391L4V
- RR207016L3V
- RR207016L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for DARS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DARS1
Relevant External Links for DARS1 Gene
- GeneLoc Exon Structure for
- DARS1
Expression for DARS1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DARS1
SOURCE GeneReport for Unigene cluster for DARS1 Gene:
Hs.503787mRNA Expression by UniProt/SwissProt for DARS1 Gene:
P14868-SYDC_HUMAN
Tissue specificity:
Expression in the developing and adult brain shows similar patterns. Highly expressed in the ventricular and subventricular zones, including hippocampal subfields, the midlateral temporal cortex and the frontal polar cortex. The cerebellum, cerebral cortex, hippocampus, and lateral ventricle show preferential neuronal expression. Expression in the peripheral neurons is evident in the colon.
Evidence on tissue expression from TISSUES for DARS1 Gene
- Liver(4.6)
- Nervous system(4.5)
- Heart(4.5)
- Blood(4.4)
- Eye(4.3)
- Kidney(2.5)
- Skin(2.5)
- Muscle(2.4)
- Spleen(2.3)
- Thyroid gland(2.1)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DARS1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- eye
- head
Thorax:
- chest wall
Abdomen:
- abdominal wall
Limb:
- foot
- lower limb
General:
- spinal cord
Primer products for research
-
OriGene qPCR primer pairs for DARS1
-
OriGene qPCR primer pairs and template standards for DARS1
No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DARS1 Gene
Orthologs for DARS1 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DARS 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DARS 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DARS 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DARS 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dars 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dars 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DARS 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | DARS 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DARS 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dars 29 |
|
||
| MGC76305 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | dars-prov 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dars 29 30 |
|
OneToOne | |
| wufc17a11 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Aats-asp 29 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005576 29 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | dars-1 29 30 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D03839g 29 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DPS1 29 30 32 |
|
OneToOne | |
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL039C 29 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G31180 29 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.10065 29 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.1067 29 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os02g0686400 29 |
|
||
| Os.12716 29 |
|
||||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.2597 29 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.14416 29 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.3547 29 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9554 30 |
|
OneToOne | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | drs1 29 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU07082 29 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.6166 29 |
|
- Species where no ortholog for DARS1 was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
Evolution for DARS1 Gene
- ENSEMBL:
- Gene Tree for DARS1 (if available)
- TreeFam:
- Gene Tree for DARS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for DARS1: view image
- Alliance of Genome Resources:
- Additional Orthologs for DARS1
Paralogs for DARS1 Gene
Variants for DARS1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DARS1 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 1008335 | Uncertain Significance: not provided | 135,911,162(-) |
G/A NM_001349.4(DARS1):c.1391C>T (p.Pro464Leu) |
MISSENSE | |
| 1030430 | Uncertain Significance: Hypomyelination with brainstem and spinal cord involvement and leg spasticity | 135,924,419(-) |
A/G NM_001349.4(DARS1):c.644T>C (p.Phe215Ser) |
MISSENSE | |
| 1031971 | Uncertain Significance: Hypomyelination with brainstem and spinal cord involvement and leg spasticity | 135,907,329(-) |
C/T NM_001349.4(DARS1):c.1493G>A (p.Arg498Gln) |
MISSENSE | |
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
28.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.16;
39.12% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for DARS1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DARS1 Gene
Disorders for DARS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypomyelination with brainstem and spinal cord involvement and leg spasticity |
|
|
| spasticity |
|
|
| supraglottis neoplasm |
|
|
| combined oxidative phosphorylation deficiency 12 |
|
|
| cowpox |
|
|
Search DARS1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SYDC_HUMAN- Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]: An autosomal recessive leukoencephalopathy characterized by onset in the first year of life of severe spasticity, mainly affecting the lower limbs and resulting in an inability to achieve independent ambulation. Affected individuals show delayed motor development and nystagmus; some may have mild mental retardation. Brain MRI shows hypomyelination and white matter lesions in the cerebrum, brainstem, cerebellum, and spinal cord. {ECO:0000269 PubMed:23643384}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for DARS1
- Atlas
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- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for DARS1 Gene
Publications for DARS1 Gene
- Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. (PMID: 23643384) Taft RJ … Wolf NI (American journal of human genetics 2013) 3 4 72
- Lysyl-tRNA synthetase interacts with EF1alpha, aspartyl-tRNA synthetase and p38 in vitro. (PMID: 18029264) Guzzo CM … Yang DC (Biochemical and biophysical research communications 2008) 3 4 22
- cDNA sequence, predicted primary structure, and evolving amphiphilic helix of human aspartyl-tRNA synthetase. (PMID: 2674137) Jacobo-Molina A … Yang DC (The Journal of biological chemistry 1989) 2 3 4
- Crystal structure of human cytosolic aspartyl-tRNA synthetase, a component of multi-tRNA synthetase complex. (PMID: 23609930) Kim KR … Han BW (Proteins 2013) 3 4
- Dissection of the structural organization of the aminoacyl-tRNA synthetase complex. (PMID: 19131329) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4
ExternalLinks
Products for DARS1 Gene
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Sources for DARS1 Gene
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