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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
  • EC 6.1.1.12 4 58
  • AspRS 3 4
  • Aspartyl-TRNA Synthetase, Cytoplasmic 3
  • Aspartate--TRNA Ligase, Cytoplasmic 3
  • Testicular Tissue Protein Li 192 3
  • 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 Metabolism and tRNA Aminoacylation. 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

Regulatory Elements for DARS Gene

Enhancers for DARS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H135983 1.4 ENCODE dbSUPER 17.1 +1.1 1135 3 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B DARS CXCR4 MCM6 DARS-AS1 GC02P135903
GH02H136005 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -21.8 -21804 4 HDGF PKNOX1 BMI1 BATF SCRT2 ATF7 ETV6 RUNX3 IKZF2 CREM CXCR4 DARS MCM6 UBXN4 GC02P136042
GH02H135874 1.4 FANTOM5 ENCODE 11.4 +110.1 110114 2 FOXA2 ATF1 ARNT ARID4B SIN3A DMAP1 GTF3C2 SLC30A9 ELK1 ZNF207 UBXN4 CXCR4 CCNT2 DARS MCM6 GC02M135791
GH02H135947 1.2 Ensembl ENCODE 11.7 +37.0 37008 2 HDGF PKNOX1 BMI1 BATF RFX5 ZNF366 SCRT2 ATF7 RCOR1 FOS DARS DARS-AS1 GC02P135903
GH02H135960 1.2 FANTOM5 Ensembl ENCODE 11.2 +24.4 24438 3 PKNOX1 DPF2 ATF2 FOXA1 ZNF217 JUND GATA3 IKZF1 MLLT1 ATF7 DARS MCM6 DARS-AS1 GC02P135903
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DARS on UCSC Golden Path with GeneCards custom track

Promoters for DARS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000123542 900 2001 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B

Genomic Location for DARS Gene

Chromosome:
2
Start:
135,905,881 bp from pter
End:
135,986,100 bp from pter
Size:
80,220 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; also part of a multisubunit complex that groups AIMP1, AIMP2, EEF1A1 and tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro.

    Three dimensional structures from OCA and Proteopedia for DARS Gene

    Alternative splice isoforms for DARS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DARS Gene

Selected DME Specific Peptides for DARS Gene

P14868:
  • PPHAGGGIGLERV
  • PKIISAASE
  • DLSTPNEKLLG
  • IGPVFRAE
  • QSPQLYK
  • CFLVLRQ
  • FPRDPKRL
  • DAAEDYAKERYG
  • FMRGEEI
  • DTRLDNR

Post-translational modifications for DARS Gene

  • Ubiquitination at isoforms=2330
  • Modification sites at PhosphoSitePlus

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 CatalyticActivity:
ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).
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.

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 IDA 22658674
GO:0004046 aminoacylase activity TAS 8449960
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004815 aspartate-tRNA ligase activity TAS,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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DARS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

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 8449960
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IDA 19131329
GO:0070062 extracellular exosome IDA 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,TAS --
GO:0006461 protein 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 Nutra 0
ATP Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
Ureidosuccinic acid
  • 2-Ureidobutanedioate
  • 2-Ureidobutanedioic acid
  • Carbamoylaspartic acid
  • Carbamyl-L-aspartic acid
  • Carbamylaspartic acid
13184-27-5
genes like me logo Genes that share compounds with DARS: view

Transcripts for DARS Gene

Unigene Clusters for DARS Gene

Aspartyl-tRNA synthetase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DARS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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
Organs:
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

Primer Products

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 33 34
  • 99.73 (n)
oppossum
(Monodelphis domestica)
Mammalia DARS 34
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DARS 33 34
  • 93.88 (n)
cow
(Bos Taurus)
Mammalia DARS 33 34
  • 93.21 (n)
mouse
(Mus musculus)
Mammalia Dars 33 16 34
  • 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 33 34
  • 82.17 (n)
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 33 34
  • 76.6 (n)
wufc17a11 33
fruit fly
(Drosophila melanogaster)
Insecta Aats-asp 35 33 34
  • 62.92 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005576 33
  • 60.13 (n)
worm
(Caenorhabditis elegans)
Secernentea drs-1 35
  • 63 (a)
dars-1 33 34
  • 62.57 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D03839g 33
  • 58.18 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DPS1 33 34 36
  • 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
wheat
(Triticum aestivum)
Liliopsida Ta.14416 33
corn
(Zea mays)
Liliopsida Zm.3547 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9554 34
  • 76 (a)
OneToOne
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)

Paralogs for DARS Gene

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 Sequence Context AA Info Type
rs147077598 Pathogenic, 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(+) ATCAC(A/C/G)AGGGA reference, missense
rs148806569 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,911,162(+) GAGGA(A/G)GGGCT reference, missense
rs369152939 Pathogenic, Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,920,591(+) CTTCC(A/C/G)CTCTG reference, missense
rs370064817 Pathogenic, Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,916,233(+) CAGAT(A/C/G/T)GTCTT reference, missense
rs587776984 Pathogenic, Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] 135,907,363(+) CTGAC(A/G)AACAT reference, missense

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)

Relevant External Links for DARS Gene

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

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, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
hypomyelination with brainstem and spinal cord involvement and leg spasticity
  • hypomyelination with brain stem and spinal cord involvement and leg spasticity
spasticity
- 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.

Relevant External Links for DARS

Genetic Association Database (GAD)
DARS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 60
  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 60
  3. 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 60
  4. Loss of a primordial identity element for a mammalian mitochondrial aminoacylation system. (PMID: 16597625) Fender A … Sissler M (The Journal of biological chemistry 2006) 22 25 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for DARS Gene

Sources for DARS Gene

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