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Aliases for DARS Gene

Aliases for DARS Gene

  • Aspartyl-TRNA Synthetase 2 3 4 5
  • Cell Proliferation-Inducing Gene 40 Protein 3 4
  • Aspartate TRNA Ligase 1, Cytoplasmic 2 3
  • AspRS 3 4
  • Aspartyl-TRNA Synthetase, Cytoplasmic 3
  • Aspartate--TRNA Ligase, Cytoplasmic 3
  • Testicular Tissue Protein Li 192 3
  • EC 6.1.1.12 4
  • HBSL 3

External Ids for DARS Gene

Previous GeneCards Identifiers for DARS Gene

  • GC02M134319
  • GC02M134961
  • GC02M136686
  • GC02M136875
  • GC02M136497
  • GC02M136380
  • GC02M128656

Summaries for DARS Gene

Entrez Gene Summary for DARS 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 DARS Gene

DARS (Aspartyl-TRNA Synthetase) is a Protein Coding gene. Diseases associated with DARS include Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity and Spasticity. Among its related pathways are tRNA Aminoacylation and Metabolism. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and nucleotide binding.

UniProtKB/Swiss-Prot for DARS 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.

Gene Wiki entry for DARS Gene

Additional gene information for DARS Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DARS Gene

Genomics for DARS Gene

GeneHancer (GH) Regulatory Elements for DARS Gene

Promoters and enhancers for DARS Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J135983 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 667.1 +1.1 1135 3.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 DARS DARS-AS1 MCM6 CXCR4 GC02P135903
GH02J135874 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 11.4 +110.1 110113 2.3 FOXA2 ARNT ARID4B SIN3A DMAP1 SLC30A9 E2F8 ZNF143 ZNF207 FOS MCM6 UBXN4 CXCR4 CCNT2 DARS GC02M135791
GH02J135741 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 8.4 +242.5 242483 5.2 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B IRF4 UBXN4 MCM6 CCNT2 DARS MAP3K19 GC02M135782
GH02J136005 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -21.8 -21803 4.7 HDGF PKNOX1 BMI1 BATF IRF4 SCRT2 ATF7 ETV6 BCLAF1 IKZF2 CXCR4 DARS MCM6 UBXN4 DARS-AS1 GC02P136042
GH02J135947 Enhancer 1.1 Ensembl ENCODE 11.7 +37.0 37008 2.6 HDGF PKNOX1 STAT5A BMI1 BATF RFX5 ZNF366 SCRT2 PRPF4 ZFP91 DARS DARS-AS1 GC02P135903
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DARS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DARS gene promoter:
  • POU2F1c
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT2
  • STAT3
  • STAT4
  • STAT5A
  • STAT5B
  • STAT6

Genomic Locations for DARS Gene

Genomic Locations for DARS Gene
chr2:135,905,881-135,986,100
(GRCh38/hg38)
Size:
80,220 bases
Orientation:
Minus strand
chr2:136,664,247-136,743,670
(GRCh37/hg19)
Size:
79,424 bases
Orientation:
Minus strand

Genomic View for DARS Gene

Genes around DARS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DARS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DARS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DARS Gene

Proteins for DARS Gene

  • Protein details for DARS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14868-SYDC_HUMAN
    Recommended name:
    Aspartate--tRNA ligase, cytoplasmic
    Protein Accession:
    P14868
    Secondary Accessions:
    • A8K3J2
    • D3DP77
    • Q2TNI3
    • Q32Q69
    • Q53HV4
    • Q53YC5
    • Q68CR9
    • Q9BW52

    Protein attributes for DARS 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 (RARS), Asp (DARS), Gln (QARS), Ile (IARS), Leu (LARS), Lys (KARS), Met (MARS) the bifunctional ligase for Glu and Pro (EPRS) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464).

    Three dimensional structures from OCA and Proteopedia for DARS Gene

    Alternative splice isoforms for DARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DARS Gene

Post-translational modifications for DARS Gene

  • Ubiquitination at Lys330
  • Modification sites at PhosphoSitePlus

Other Protein References for DARS Gene

No data available for DME Specific Peptides for DARS Gene

Domains & Families for DARS Gene

Gene Families for DARS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DARS Gene

Graphical View of Domain Structure for InterPro Entry

P14868

UniProtKB/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.
genes like me logo Genes that share domains with DARS: view

Function for DARS Gene

Molecular function for DARS 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:
ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).

Enzyme Numbers (IUBMB) for DARS Gene

Phenotypes From GWAS Catalog for DARS Gene

Gene Ontology (GO) - Molecular Function for DARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,IBA --
GO:0004046 aminoacylase activity TAS 8449960
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004815 aspartate-tRNA ligase activity IEA --
genes like me logo Genes that share ontologies with DARS: view
genes like me logo Genes that share phenotypes with DARS: view

Human Phenotype Ontology for DARS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for DARS Gene

miRTarBase miRNAs that target DARS

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DARS Gene

Localization for DARS Gene

Subcellular locations from UniProtKB/Swiss-Prot for DARS Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DARS gene
Compartment Confidence
extracellular 5
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS,IEA 8449960
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 19946888
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IDA 19131329
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with DARS: view

Pathways & Interactions for DARS Gene

genes like me logo Genes that share pathways with DARS: view

Pathways by source for DARS Gene

Gene Ontology (GO) - Biological Process for DARS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS 8449960
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006422 aspartyl-tRNA aminoacylation IEA --
GO:0065003 protein-containing complex assembly TAS 8449960
genes like me logo Genes that share ontologies with DARS: view

No data available for SIGNOR curated interactions for DARS Gene

Drugs & Compounds for DARS Gene

(6) Drugs for DARS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(9) Additional Compounds for DARS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
Ureidosuccinic acid
  • Carbamyl-L-aspartic acid
  • L-Ureidosuccinic acid
  • N-(Aminocarbonyl)-L-aspartic acid
  • N-Carbamoyl-L-aspartate
  • N-Carbamoyl-S-aspartic acid
13184-27-5
genes like me logo Genes that share compounds with DARS: view

Transcripts for DARS Gene

mRNA/cDNA for DARS Gene

Unigene Clusters for DARS Gene

Aspartyl-tRNA synthetase:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DARS Gene

No ASD Table

Relevant External Links for DARS Gene

GeneLoc Exon Structure for
DARS
ECgene alternative splicing isoforms for
DARS

Expression for DARS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DARS Gene

Protein differential expression in normal tissues from HIPED for DARS Gene

This gene is overexpressed in Lymph node (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DARS Gene



Protein tissue co-expression partners for DARS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DARS Gene:

DARS

SOURCE GeneReport for Unigene cluster for DARS Gene:

Hs.503787

mRNA Expression by UniProt/SwissProt for DARS 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 temporaal cortex and the frontal polar cortex. The cerebellum, cereral 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 DARS Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Heart(4.4)
  • Eye(4.3)
  • Kidney(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DARS 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
genes like me logo Genes that share expression patterns with DARS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DARS Gene

Orthologs for DARS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DARS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DARS 34 33
  • 99.73 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DARS 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DARS 34 33
  • 93.88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DARS 34 33
  • 93.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dars 16 34 33
  • 91.75 (n)
rat
(Rattus norvegicus)
Mammalia Dars 33
  • 90.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DARS 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves DARS 34 33
  • 82.17 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DARS 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dars 33
  • 77.71 (n)
MGC76305 33
African clawed frog
(Xenopus laevis)
Amphibia dars-prov 33
zebrafish
(Danio rerio)
Actinopterygii dars 34 33
  • 76.6 (n)
OneToOne
wufc17a11 33
fruit fly
(Drosophila melanogaster)
Insecta Aats-asp 34 35 33
  • 62.92 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005576 33
  • 60.13 (n)
worm
(Caenorhabditis elegans)
Secernentea drs-1 35
  • 63 (a)
dars-1 34 33
  • 62.57 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03839g 33
  • 58.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPS1 36 34 33
  • 57.74 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL039C 33
  • 55.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G31180 33
  • 55.85 (n)
soybean
(Glycine max)
eudicotyledons Gma.1067 33
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10065 33
rice
(Oryza sativa)
Liliopsida Os02g0686400 33
  • 55.71 (n)
Os.12716 33
barley
(Hordeum vulgare)
Liliopsida Hv.2597 33
corn
(Zea mays)
Liliopsida Zm.3547 33
wheat
(Triticum aestivum)
Liliopsida Ta.14416 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9554 34
  • 76 (a)
OneToOne
Cin.6166 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes drs1 33
  • 56.19 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07082 33
  • 50.07 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6166 33
Species where no ortholog for DARS 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 DARS Gene

ENSEMBL:
Gene Tree for DARS (if available)
TreeFam:
Gene Tree for DARS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DARS: view image

Paralogs for DARS Gene

(3) SIMAP similar genes for DARS Gene using alignment to 9 proteins:

  • SYDC_HUMAN
  • C9J7S3_HUMAN
  • C9JLC1_HUMAN
  • C9JQM9_HUMAN
  • D3DP78_HUMAN
  • H7BZ35_HUMAN
  • H7C278_HUMAN
  • Q53R85_HUMAN
  • Q53T60_HUMAN
genes like me logo Genes that share paralogs with DARS: view

No data available for Paralogs for DARS Gene

Variants for DARS Gene

Sequence variations from dbSNP and Humsavar for DARS Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1060499772 likely-pathogenic, Abnormality of brain morphology 135,943,412(-) C/G coding_sequence_variant, missense_variant
rs147077598 pathogenic, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281], Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,907,342(-) G/A/C coding_sequence_variant, missense_variant
rs148806569 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,911,162(-) G/A coding_sequence_variant, missense_variant
rs369152939 pathogenic, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,920,591(-) G/A/C coding_sequence_variant, missense_variant
rs370064817 pathogenic, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,916,233(-) C/A/G/T coding_sequence_variant, missense_variant

Variation tolerance for DARS Gene

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 DARS Gene

Human Gene Mutation Database (HGMD)
DARS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DARS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DARS Gene

Disorders for DARS Gene

MalaCards: The human disease database

(2) MalaCards diseases for DARS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DARS 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 mutations affecting the gene represented in this entry.

Additional Disease Information for DARS

genes like me logo Genes that share disorders with DARS: view

No data available for Genatlas for DARS Gene

Publications for DARS Gene

  1. 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 58
  2. 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 58
  3. 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 58
  4. 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 58
  5. Dynamic Organization of Aminoacyl-tRNA Synthetase Complexes in the Cytoplasm of Human Cells. (PMID: 19289464) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4 58

Products for DARS Gene

Sources for DARS Gene

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