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    Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) [ Mus musculus (house mouse) ]

    Gene ID: 226539, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Dars2provided by MGI
    Official Full Name
    aspartyl-tRNA synthetase 2 (mitochondrial)provided by MGI
    Primary source
    MGI:MGI:2442510
    See related
    Ensembl:ENSMUSG00000026709 AllianceGenome:MGI:2442510
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    aspRS; 5830468K18Rik
    Summary
    Predicted to enable aspartate-tRNA ligase activity; aspartate-tRNA(Asn) ligase activity; and protein homodimerization activity. Predicted to be involved in aspartyl-tRNA aminoacylation and mitochondrial asparaginyl-tRNA aminoacylation. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; midbrain; and telencephalon. Orthologous to human DARS2 (aspartyl-tRNA synthetase 2, mitochondrial). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in liver E14 (RPKM 5.9), CNS E11.5 (RPKM 5.9) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dars2 in Genome Data Viewer
    Location:
    1 H2.1; 1 69.75 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (160868171..160898236, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (161037580..161070668, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, C/D box 47 Neighboring gene predicted gene, 25789 Neighboring gene growth arrest specific 5 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:163000837-163001115 Neighboring gene STARR-positive B cell enhancer ABC_E11097 Neighboring gene centromere protein L Neighboring gene kelch-like 20 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:163061431-163061751

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption. Nemeth CL, et al. Exp Neurol, 2020 Apr. PMID 31887305, Free PMC Article
    2. Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart. Dogan SA, et al. Cell Metab, 2014 Mar 4. PMID 24606902
    3. Adaptation to mitochondrial stress requires CHOP-directed tuning of ISR. Kaspar S, et al. Sci Adv, 2021 May. PMID 34039602, Free PMC Article
    4. DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia. Rumyantseva A, et al. Hum Mol Genet, 2020 Oct 10. PMID 32766765
    5. DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells. Aradjanski M, et al. Hum Mol Genet, 2017 Nov 1. PMID 28985337

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
      Title: DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
    2. Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
      Title: Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
    3. Results now provide the first evidence that loss of DARS2 in neurons leads to strong mitochondrial dysfunction and progressive loss of cells.
      Title: DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.
    4. DARS2 depletion in heart and skeletal muscle leads to the severe deregulation of mitochondrial protein synthesis followed by a strong respiratory chain deficit in both tissues.
      Title: Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (3)  1 citation

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC99963

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables aspartate-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aspartate-tRNA ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aspartate-tRNA ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables aspartate-tRNA(Asn) ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables aspartate-tRNA(Asn) ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in aspartyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial asparaginyl-tRNA aminoacylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in mitochondrial asparaginyl-tRNA aminoacylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in tRNA aminoacylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial matrix ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    aspartate--tRNA ligase, mitochondrial
    NP_766232.1
    XP_006496820.1
    XP_006496821.1
    XP_036019957.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_172644.4 → NP_766232.1  aspartate--tRNA ligase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_766232.1

      Status: VALIDATED

      Source sequence(s)
      AK030952, AK138809, BY781897
      Consensus CDS
      CCDS15413.1
      UniProtKB/Swiss-Prot
      Q5FWV4, Q8BIP0
      Related
      ENSMUSP00000041851.4, ENSMUST00000035430.4
      Conserved Domains (4) summary
      PRK00476
      Location:49 → 636
      aspS; aspartyl-tRNA synthetase; Validated
      cd00777
      Location:186 → 606
      AspRS_core; Asp tRNA synthetase (aspRS) class II core domain. Class II assignment is based upon its structure and the presence of three characteristic sequence motifs. AspRS is a homodimer, which attaches a specific amino acid to the 3' OH group of ribose of the ...
      cd04317
      Location:49 → 182
      EcAspRS_like_N; EcAspRS_like_N: N-terminal, anticodon recognition domain of the type found in Escherichia coli aspartyl-tRNA synthetase (AspRS), the human mitochondrial (mt) AspRS-2, the discriminating (D) Thermus thermophilus AspRS-1, and the nondiscriminating (ND) ...
      pfam02938
      Location:360 → 451
      GAD; GAD domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      160868171..160898236 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006496757.3 → XP_006496820.1  aspartate--tRNA ligase, mitochondrial isoform X1

      Conserved Domains (1) summary
      PRK00476
      Location:49 → 615
      aspS; aspartyl-tRNA synthetase; Validated

    2. XM_036164064.1 → XP_036019957.1  aspartate--tRNA ligase, mitochondrial isoform X3

      Conserved Domains (1) summary
      PRK00476
      Location:1 → 483
      aspS; aspartyl-tRNA synthetase; Validated

    3. XM_006496758.4 → XP_006496821.1  aspartate--tRNA ligase, mitochondrial isoform X2

      Conserved Domains (1) summary
      PRK00476
      Location:1 → 504
      aspS; aspartyl-tRNA synthetase; Validated
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BIP0.1 GenPept UniProtKB/Swiss-Prot:Q8BIP0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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