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DARS Gene

protein-coding   GIFtS: 66
GCID: GC02M136686

Aspartyl-TRNA Synthetase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Aspartyl-TRNA Synthetase1 2 3     aspRS2
Cell Proliferation-Inducing Gene 40 Protein2 3     Aspartate TRNA Ligase 1, Cytoplasmic2
EC 6.1.1.123 8     Aspartate--TRNA Ligase, Cytoplasmic2
HBSL2 5     Aspartyl-TRNA Synthetase, Cytoplasmic2
Aspartate TRNA Ligase 11     Cell Proliferation-Inducing Protein 402
cytoplasmic1     AspRS3

External Ids:    HGNC: 26781   Entrez Gene: 16152   Ensembl: ENSG000001158667   OMIM: 6030845   UniProtKB: P148683   

Export aliases for DARS gene to outside databases

Previous GC identifers: GC02M134319 GC02M134961 GC02M136875 GC02M136497 GC02M136380 GC02M128656


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DARS Gene:
Aspartyl-tRNA synthetase (DARS) is part of a multienzyme complex of aminoacyl-tRNA synthetases. Aspartyl-tRNA
synthetase charges its cognate tRNA with aspartate during protein biosynthesis. (provided by RefSeq, Jul 2008)

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 appendicitis. GO annotations related to this gene include aspartate-tRNA ligase activity and nucleic acid binding.

UniProtKB/Swiss-Prot: SYDC_HUMAN, P14868
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

Gene Wiki entry for DARS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the DARS gene promoter:
         STAT5B   STAT1   STAT4   STAT6   STAT1beta   STAT5A   STAT1alpha   STAT2   STAT3   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDARS promoter sequence
   Search Chromatin IP Primers for DARS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DARS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q21.3   Ensembl cytogenetic band:  2q21.3   HGNC cytogenetic band: 2q21.3

DARS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DARS gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M136686:  view genomic region     (about GC identifiers)

Start:
136,664,247 bp from pter      End:
136,743,670 bp from pter
Size:
79,424 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: SYDC_HUMAN, P14868 (See protein sequence)
Recommended Name: Aspartate--tRNA ligase, cytoplasmic  
Size: 501 amino acids; 57136 Da
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
1 PDB 3D structure from and Proteopedia for DARS:
4J15 (3D)    
Secondary accessions: A8K3J2 D3DP77 Q2TNI3 Q32Q69 Q53HV4 Q53YC5 Q9BW52

Explore the universe of human proteins at neXtProt for DARS: NX_P14868

Explore proteomics data for DARS at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys103, Lys330
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DARS (P14868) (see all 10)
     QSPQLYK  CFLVLRQ  DTRLDNR  FMRGEEI 


    See DARS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001340.2  
    ENSEMBL proteins: 
     ENSP00000264161   ENSP00000387508   ENSP00000389867   ENSP00000397616   ENSP00000388801  
     ENSP00000404445   ENSP00000444192  
    Reactome Protein details: P14868

    DARS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals DARS Proteins
    Novus Biologicals DARS Lysates
    Sino Biological Recombinant Protein for DARS
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for DARS
    Cloud-Clone Corp. Proteins for DARS

    DARS Antibody Products:

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    Abcam antibodies for DARS
    Cloud-Clone Corp. Antibodies for DARS
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    LSBio Antibodies in human, mouse, rat for DARS

    DARS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for DARS
    Cloud-Clone Corp. CLIAs for DARS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    aaRS2: Aminoacyl tRNA synthetases / Class II

    Selected InterPro protein domains (see all 7):
     IPR004523 Asp-tRNA_synthase
     IPR006195 aa-tRNA-synth_II
     IPR004364 aa-tRNA-synt_II
     IPR012340 NA-bd_OB-fold
     IPR004365 NA-bd_OB_tRNA

    Graphical View of Domain Structure for InterPro Entry P14868

    ProtoNet protein and cluster: P14868

    3 Blocks protein domains:
    IPB002312 Aspartyl-tRNA synthetase signature
    IPB004364 tRNA synthetase
    IPB004365 OB-fold nucleic acid binding domain


    UniProtKB/Swiss-Prot: SYDC_HUMAN, P14868
    Similarity: Belongs to the class-II aminoacyl-tRNA synthetase family


    DARS for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SYDC_HUMAN, P14868
    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)

         Enzyme Number (IUBMB): EC 6.1.1.121 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0003676nucleic acid binding ----
    GO:0004046aminoacylase activity TAS8449960
    GO:0004812aminoacyl-tRNA ligase activity ----
    GO:0004815aspartate-tRNA ligase activity IEA--
         
    DARS for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DARS:
     Decreased POU5F1-GFP protein e  Decreased viability 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DARS
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DARS
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DARS

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat DARS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DARS (see all 11):
    hsa-miR-3685 hsa-miR-448 hsa-miR-657 hsa-miR-3617 hsa-miR-4282 hsa-miR-374c hsa-miR-641 hsa-miR-655
    SwitchGear 3'UTR luciferase reporter plasmidDARS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DARS
    Predesigned siRNA for gene silencing in human, mouse, rat DARS

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for DARS

    Clone
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    OriGene clones in human, mouse for DARS (see all 7)
    OriGene ORF clones in mouse, rat for DARS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DARS (NM_001349)
    Sino Biological Human cDNA Clone for DARS
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DARS

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DARS 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DARS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SYDC_HUMAN, P14868: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA--

    DARS for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DARS About    
    See pathways by source

    SuperPathContained pathways About
    1tRNA Aminoacylation
    tRNA Aminoacylation0.57
    Aminoacyl-tRNA biosynthesis0.52
    Cytosolic tRNA aminoacylation0.57
    2Gene Expression
    Gene Expression0.40
    3Alanine and aspartate metabolism
    Alanine and aspartate metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DARS
        Alanine and aspartate metabolism


    1 Reactome Pathway for DARS
        Cytosolic tRNA aminoacylation


    1 Kegg Pathway  (Kegg details for DARS):
        Aminoacyl-tRNA biosynthesis


    DARS for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DARS
    Interactions:

        Search GeneGlobe Interaction Network for DARS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for DARS (P148681, 2, 3 ENSP000002641614) via UniProtKB, MINT, STRING, and/or I2D (see all 193)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIK3R3Q925692, 3MINT-8266194 I2D: score=2 
    AIMP2Q131552, 3, ENSP000002230294MINT-8258842 MINT-66813 I2D: score=5 STRING: ENSP00000223029
    GRB2P629931, 3, ENSP000003390074EBI-358730,EBI-401755 I2D: score=1 STRING: ENSP00000339007
    HSP90AA1P079002, 3, ENSP000003351534MINT-17656 I2D: score=4 STRING: ENSP00000335153
    EEF1A1P681043, ENSP000003300544I2D: score=4 STRING: ENSP00000330054
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation TAS8449960
    GO:0006418tRNA aminoacylation for protein translation TAS--
    GO:0006422aspartyl-tRNA aminoacylation IEA--
    GO:0006461protein complex assembly TAS8449960
    GO:0010467gene expression TAS--

    DARS for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DARS (SYDC)

    6 HMDB Compounds for DARS    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    L-Aspartic acid(+)-Aspartate (see all 41)56-84-8--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Ureidosuccinic acid2-Ureidobutanedioic acid (see all 16)13184-27-5--

    1 DrugBank Compound for DARS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Aspartic Acid(+)-Aspartic acid (see all 23)56-84-8target--16597625 10562565 17139284 17016423 8313877

    10 Novoseek inferred chemical compound relationships for DARS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartyl adenylate 96.1 2 15582453 (1), 16574659 (1)
    aminoacyl-trna 90 3 9548745 (1), 15779907 (1), 9878398 (1)
    trna(asp) 89 6 8841554 (1), 17690095 (1), 16675303 (1), 12766171 (1)
    trna 79.7 51 16800632 (4), 19443655 (3), 8449960 (3), 7806521 (2) (see all 12)
    anticodon 65.4 1 12766171 (1)
    aspartate 57.8 8 17690095 (1), 9480772 (1), 17964262 (1), 16408313 (1)
    asparagine 43.6 4 9480772 (1), 17964262 (1), 16408313 (1)
    biotin 30.2 1 12821332 (1)
    magnesium 29.7 4 16774919 (3)
    atp 20.1 7 16408313 (2), 8841554 (1), 16774919 (1)



    DARS for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DARS gene: 
    NM_001349.2  

    Unigene Cluster for DARS:

    Aspartyl-tRNA synthetase
    Hs.503787  [show with all ESTs]
    Unigene Representative Sequence: NM_001349
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264161(uc002tux.1 uc010fnj.1) ENST00000478212 ENST00000489964
    ENST00000422708 ENST00000491481 ENST00000441323 ENST00000456565 ENST00000449218
    ENST00000435076 ENST00000463008 ENST00000474184 ENST00000537273
    miRNA
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    Block miRNA regulation of human, mouse, rat DARS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DARS (see all 11):
    hsa-miR-3685 hsa-miR-448 hsa-miR-657 hsa-miR-3617 hsa-miR-4282 hsa-miR-374c hsa-miR-641 hsa-miR-655
    SwitchGear 3'UTR luciferase reporter plasmidDARS 3' UTR sequence
    Inhib. RNA
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: DARS (NM_001349)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DARS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DARS
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DARS
      QuantiTect SYBR Green Assays in human, mouse, rat DARS
      QuantiFast Probe-based Assays in human, mouse, rat DARS

    Additional mRNA sequence: 

    AK129521.1 AK222476.1 AK290607.1 AY762100.1 BC000629.2 BC107749.1 BT006710.1 CR749809.1 
    J05032.1 

    22 DOTS entries:

    DT.40312213  DT.452634  DT.100681335  DT.120973165  DT.100681326  DT.95150459  DT.95150452  DT.120973169 
    DT.75141515  DT.86855627  DT.92448148  DT.92448153  DT.95153346  DT.120973163  DT.75158530  DT.95196519 
    DT.91743855  DT.95150457  DT.95150458  DT.100681332  DT.100682068  DT.97859714 

    Selected AceView cDNA sequences (see all 401):

    CA397904 BI714792 BP374719 BQ440736 BM800514 BM717950 AU279963 BQ650959 
    N24843 CB151611 AA281081 BG944720 BQ777748 BT006710 BP365795 AU122896 
    BU167645 BQ215061 CR608647 BC000629 AU138821 CB138334 AA481629 BQ006775 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DARS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAATTAAC
    DARS Expression
    About this image


    DARS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Ovary (Reproductive System)
             Oviduct
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Bone (Muscoskeletal System)
             Bone Marrow
    DARS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DARS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.503787

    UniProtKB/Swiss-Prot: SYDC_HUMAN, P14868
    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

        Custom PCR Arrays for DARS
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    QuantiFast Probe-based Assays in human, mouse, rat DARS
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DARS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DARS gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dars1 , 5 aspartyl-tRNA synthetase1, 5 91.75(n)1
    96.01(a)1
      1 (55.80 cM)5
    2264141  NM_177445.51  NP_803228.21 
     1283637085 
    chicken
    (Gallus gallus)
    Aves DARS1 aspartyl-tRNA synthetase 82.17(n)
    89.82(a)
      424296  NM_001006528.2  NP_001006528.1 
    lizard
    (Anolis carolinensis)
    Reptilia DARS6
    aspartyl-tRNA synthetase
    85(a)
    1 ↔ 1
    1(96799050-96851196)
    African clawed frog
    (Xenopus laevis)
    Amphibia dars-prov2 aspartyl-tRNA synthetase 79.7(n)    BC042227.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc17a112 wufc17a11 77.56(n)   324025  CK400129.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Aats-asp1 , 3 aspartyl-tRNA aminoacylation
    aspartate-tRNA ligase3
    Aspartyl-tRNA synthetase1
    68(a)3
    62.92(n)1
    67.67(a)1
      49D73
    364201  NM_001274001.11  NP_001260930.11 
    worm
    (Caenorhabditis elegans)
    Secernentea drs-13
    dars-11
    Aspartyl-tRNA synthetase3
    dars-11
    63(a)3
    62.57(n)1
    64.58(a)1
      III(9561037-9562925)3
    1763341  NM_066688.31  NP_499089.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DPS1(YLL018C)4
    DPS11
    Aspartyl-tRNA synthetase, primarily cytoplasmic; homodimeric more4
    DPS11
    57.74(n)1
    57.81(a)1
      12(111575-109902)4
    8506431, 4  NP_013083.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G311801 AT4G31180 55.85(n)
    52.98(a)
      829246  NM_119268.4  NP_194847.3 
    rice
    (Oryza sativa)
    Liliopsida Os.127162 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.75(n)    AK100516.1 


    ENSEMBL Gene Tree for DARS (if available)
    TreeFam Gene Tree for DARS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DARS gene
    3 SIMAP similar genes for DARS using alignment to 9 protein entries:     SYDC_HUMAN (see all proteins):
    DKFZp781B11202    NARS    NARS2

    DARS for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DARS (see all 1404)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700394
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700392 A V mis40--------
    VAR_0700444
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700442 R C mis40--------
    VAR_0700434
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700432 R C mis40--------
    VAR_0700414
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700412 R H mis40--------
    VAR_0700384
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700382 M L mis40--------
    VAR_0700424
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700422 P L mis40--------
    VAR_0700454
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700452 R G mis40--------
    VAR_0700404
    Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)4--see VAR_0700402 D Y mis40--------
    rs1839827791,2
    --136663782(+) CCCTCA/GTATTT 1 -- ds50010--------
    rs1891052211,2
    --136663883(+) CAACAC/TTTGTA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DARS (136664247 - 136743670 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DARS: --
    Human Gene Mutation Database (HGMD): DARS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DARS
    DNA2.0 Custom Variant and Variant Library Synthesis for DARS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603084   
    OMIM disorders: 615281  
    UniProtKB/Swiss-Prot: SYDC_HUMAN, P14868
  • 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. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for DARS:    
    About MalaCards
    hypomyelination with brainstem and spinal cord involvement and leg spasticity    appendicitis    alpers syndrome    episodic ataxia
    labyrinthitis    spasticity    ataxia    tonsillitis
    neuroblastoma    prostatitis    prostate cancer    cerebritis
    thyroiditis    malaria    endotheliitis


    DARS for disorders           About GeneDecksing

    Genetic Association Database (GAD): DARS

    Export disorders for DARS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for DARS gene, integrated from 10 sources (see all 94):
    (articles sorted by number of sources associating them with DARS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA sequence, predicted primary structure, and evolving amphiphilic helix of human aspartyl-tRNA synthetase. (PubMed id 2674137)1, 2, 3 Jacobo-Molina A.... Yang D.C.H. (J. Biol. Chem. 1989)
    2. Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. (PubMed id 23643384)1, 2 Taft R.J....Wolf N.I. (Am. J. Hum. Genet. 2013)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Structure of the N-terminal extension of human aspartyl-tRNA synthetase: implications for its biological function. (PubMed id 12824064)1, 9 Cheong H.K....Cheong C. (amp 2003)
    5. Expression of human aspartyl-tRNA synthetase in Escherichia coli. Functional analysis of the N-terminal putative amphiphilic helix. (PubMed id 8449960)1, 9 Escalante C. and Yang D.C. (J. Biol. Chem. 1993)
    6. Lysyl-tRNA synthetase interacts with EF1alpha, aspartyl-tRNA synthetase and p38 in vitro. (PubMed id 18029264)2, 9 Guzzo C.M. and Yang D.C.H. (Biochem. Biophys. Res. Commun. 2008)
    7. Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. (PubMed id 15779907)1, 9 Bonnefond L....Sissler M. (Biochemistry 2005)
    8. Mechanisms of the transfer of aminoacyl-tRNA from aminoacyl-tRNA synthetase to the elongation factor 1 alpha. (PubMed id 7806521)1, 9 Reed V.S....Yang D.C. (J. Biol. Chem. 1994)
    9. Loss of a primordial identity element for a mammalian mitochondrial aminoacylation system. (PubMed id 16597625)7, 9 Fender A....Sissler M. (J. Biol. Chem. 2006)
    10. Genetic dissection of protein-protein interactions in multi-tRNA synthetase complex. (PubMed id 10200289)1, 9 Rho S.B....Shiba K. (Proc. Natl. Acad. Sci. U.S.A. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1615 HGNC: 2678 AceView: DARS Ensembl:ENSG00000115866 euGenes: HUgn1615
    ECgene: DARS Kegg: 1615 H-InvDB: DARS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DARS Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DARS gene:
    Search GeneIP for patents involving DARS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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