Human Gene DARS1 (uc002tux.1)
  Description: Homo sapiens aspartyl-tRNA synthetase (DARS1), mRNA.
RefSeq Summary (NM_001349): 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].
Transcript (Including UTRs)
   Position: hg19 chr2:136,664,254-136,743,222 Size: 78,969 Total Exon Count: 16 Strand: -
Coding Region
   Position: hg19 chr2:136,664,886-136,743,038 Size: 78,153 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:136,664,254-136,743,222)mRNA (may differ from genome)Protein (501 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHPRDLynxMGIneXtProtOMIM
PubMedReactomeTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYDC_HUMAN
DESCRIPTION: RecName: Full=Aspartate--tRNA ligase, cytoplasmic; EC=6.1.1.12; AltName: Full=Aspartyl-tRNA synthetase; Short=AspRS; AltName: Full=Cell proliferation-inducing gene 40 protein;
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.
CATALYTIC ACTIVITY: ATP + L-aspartate + tRNA(Asp) = AMP + diphosphate + L-aspartyl-tRNA(Asp).
SUBUNIT: 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.
INTERACTION: P62993:GRB2; NbExp=2; IntAct=EBI-358730, EBI-401755;
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the class-II aminoacyl-tRNA synthetase family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 72.69 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1126.19 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -77.50184-0.421 Picture PostScript Text
3' UTR -118.60632-0.188 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004364 - aa-tRNA-synt_II
IPR018150 - aa-tRNA-synt_II-like
IPR006195 - aa-tRNA-synth_II
IPR004523 - Asp-tRNA_synthase
IPR002312 - Asp/Asn-tRNA-synth_IIb
IPR012340 - NA-bd_OB-fold
IPR016027 - NA-bd_OB-fold-like
IPR004365 - NA-bd_OB_tRNA-helicase

Pfam Domains:
PF00152 - tRNA synthetases class II (D, K and N)
PF01336 - OB-fold nucleic acid binding domain

SCOP Domains:
50249 - Nucleic acid-binding proteins
55681 - Class II aaRS and biotin synthetases

ModBase Predicted Comparative 3D Structure on P14868
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 RGDEnsemblFlyBaseWormBaseSGD
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence
 AlignmentAlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0004046 aminoacylase activity
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004815 aspartate-tRNA ligase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016874 ligase activity

Biological Process:
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006422 aspartyl-tRNA aminoacylation
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  J05032 - Human aspartyl-tRNA synthetase alpha-2 subunit mRNA, complete cds.
CR749809 - Homo sapiens mRNA; cDNA DKFZp781B11202 (from clone DKFZp781B11202).
AK222476 - Homo sapiens mRNA for aspartyl-tRNA synthetase variant, clone: adKA02412.
BC000629 - Homo sapiens aspartyl-tRNA synthetase, mRNA (cDNA clone MGC:1562 IMAGE:3344322), complete cds.
AK290607 - Homo sapiens cDNA FLJ77907 complete cds, highly similar to Homo sapiens aspartyl-tRNA synthetase, mRNA.
AK129521 - Homo sapiens cDNA FLJ26010 fis, clone HRT04982, highly similar to Aspartyl-tRNA synthetase (EC 6.1.1.12).
BC107749 - Homo sapiens aspartyl-tRNA synthetase, mRNA (cDNA clone MGC:111579 IMAGE:6709590), complete cds.
HM005505 - Homo sapiens clone HTL-T-192 testicular tissue protein Li 192 mRNA, complete cds.
AY762100 - Homo sapiens cell proliferation-inducing protein 40 mRNA, complete cds.
BT006710 - Homo sapiens aspartyl-tRNA synthetase mRNA, complete cds.
DQ890741 - Synthetic construct clone IMAGE:100003371; FLH165600.01X; RZPDo839E05160D aspartyl-tRNA synthetase (DARS) gene, encodes complete protein.
KJ891028 - Synthetic construct Homo sapiens clone ccsbBroadEn_00422 DARS gene, encodes complete protein.
DQ893912 - Synthetic construct Homo sapiens clone IMAGE:100008372; FLH165596.01L; RZPDo839E05159D aspartyl-tRNA synthetase (DARS) gene, encodes complete protein.
CU674308 - Synthetic construct Homo sapiens gateway clone IMAGE:100017681 5' read DARS mRNA.
JD022454 - Sequence 3478 from Patent EP1572962.
JD028555 - Sequence 9579 from Patent EP1572962.
JD282671 - Sequence 263695 from Patent EP1572962.
JD308023 - Sequence 289047 from Patent EP1572962.
JD565020 - Sequence 546044 from Patent EP1572962.
JD141296 - Sequence 122320 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00970 - Aminoacyl-tRNA biosynthesis

BioCyc Knowledge Library
TRNA-CHARGING-PWY - tRNA charging pathway

Reactome (by CSHL, EBI, and GO)

Protein P14868 (Reactome details) participates in the following event(s):

R-HSA-380008 lysine + tRNA(Lys) + ATP => Lys-tRNA(Lys) + AMP + pyrophosphate
R-HSA-379974 leucine + tRNA(Leu) + ATP => Leu-tRNA(Leu) + AMP + pyrophosphate
R-HSA-379861 glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate
R-HSA-379893 isoleucine + tRNA(Ile) + ATP => Ile-tRNA(Ile) + AMP + pyrophosphate
R-HSA-379865 proline + tRNA(Pro) + ATP => Pro-tRNA(Pro) + AMP + pyrophosphate
R-HSA-379994 methionine + tRNA(Met) + ATP => Met-tRNA(Met) + AMP + pyrophosphate
R-HSA-379867 aspartate + tRNA(Asp) + ATP => Asp-tRNA(Asp) + AMP + pyrophosphate
R-HSA-379982 glutamine + tRNA(Gln) + ATP => Gln-tRNA(Gln) + AMP + pyrophosphate
R-HSA-379993 arginine + tRNA(Arg) + ATP => Arg-tRNA(Arg) + AMP + pyrophosphate
R-HSA-2408546 tRNA(Met) is selenomethionylated to SeMet-tRNA(Met) by multisynthetase complex
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-2408517 SeMet incorporation into proteins
R-HSA-379724 tRNA Aminoacylation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-72766 Translation
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K3J2, D3DP77, DARS, NM_001349, NP_001340, P14868, PIG40, Q2TNI3, Q32Q69, Q53HV4, Q53YC5, Q9BW52, SYDC_HUMAN
UCSC ID: uc002tux.1
RefSeq Accession: NM_001349
Protein: P14868 (aka SYDC_HUMAN)
CCDS: CCDS2180.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001349.2
exon count: 16CDS single in 3' UTR: no RNA size: 2322
ORF size: 1506CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3009.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.