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    Aars2 alanyl-tRNA synthetase 2, mitochondrial [ Mus musculus (house mouse) ]

    Gene ID: 224805, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Aars2provided by MGI
    Official Full Name
    alanyl-tRNA synthetase 2, mitochondrialprovided by MGI
    Primary source
    MGI:MGI:2681839
    See related
    Ensembl:ENSMUSG00000023938 AllianceGenome:MGI:2681839
    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
    Gm89; Aarsl; AlaRS
    Summary
    Predicted to enable alanine-tRNA ligase activity and aminoacyl-tRNA editing activity. Predicted to be involved in mitochondrial alanyl-tRNA aminoacylation. Located in mitochondrion. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 8 and progressive leukoencephalopathy with ovarian failure. Orthologous to human AARS2 (alanyl-tRNA synthetase 2, mitochondrial). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thymus adult (RPKM 20.6), ovary adult (RPKM 10.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Aars2 in Genome Data Viewer
    Location:
    17 B3; 17 22.51 cM
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (45817473..45831769)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (45503515..45520843)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA B230354K17 gene Neighboring gene STARR-positive B cell enhancer ABC_E5612 Neighboring gene STARR-seq mESC enhancer starr_42621 Neighboring gene spermatogenesis associated, serine-rich 1 Neighboring gene STARR-seq mESC enhancer starr_42624 Neighboring gene ribosomal protein L21 pseudogene Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:45625569-45626099 Neighboring gene STARR-seq mESC enhancer starr_42626 Neighboring gene STARR-positive B cell enhancer ABC_E4215 Neighboring gene STARR-positive B cell enhancer ABC_E9052 Neighboring gene t-complex-associated testis expressed 1 Neighboring gene transmembrane protein 151B Neighboring gene STARR-positive B cell enhancer ABC_E7533 Neighboring gene STARR-positive B cell enhancer ABC_E961 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:45695258-45695367 Neighboring gene nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, epsilon

    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. Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria. Hilander T, et al. Nucleic Acids Res, 2018 Jan 25. PMID 29228266, Free PMC Article
    2. AARS1 and AARS2 sense L-lactate to regulate cGAS as global lysine lactyltransferases. Li H, et al. Nature, 2024 Oct. PMID 39322678
    3. The interactome of intact mitochondria by cross-linking mass spectrometry provides evidence for coexisting respiratory supercomplexes. Liu F, et al. Mol Cell Proteomics, 2018 Feb. PMID 29222160, Free PMC Article
    4. Functional genomic landscape of cancer-intrinsic evasion of killing by T cells. Lawson KA, et al. Nature, 2020 Oct. PMID 32968282, Free PMC Article
    5. Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2004 Jun 30. PMID 15368895

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • 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

    • MGC69820

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alanine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables alanine-tRNA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables alanine-tRNA ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables aminoacyl-tRNA editing activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables peptide lactyltransferase (ATP-dependent) activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in alanyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial alanyl-tRNA aminoacylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial alanyl-tRNA aminoacylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of cGAS/STING signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    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
    		  

    General protein information

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    Preferred Names
    alanine--tRNA ligase, mitochondrial
    Names
    alanyl-tRNA synthetase, mitochondrial
    NP_001344929.1
    NP_941010.2
    XP_011244703.1
    XP_017172929.1

    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_001358000.2 → NP_001344929.1  alanine--tRNA ligase, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC163677
      Conserved Domains (1) summary
      PLN02900
      Location:19 → 618
      PLN02900; alanyl-tRNA synthetase

    2. NM_001431963.1 → NP_001418892.1  alanine--tRNA ligase, mitochondrial isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AC163677

    3. NM_198608.3 → NP_941010.2  alanine--tRNA ligase, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_941010.2

      Status: VALIDATED

      Source sequence(s)
      AC163677
      Consensus CDS
      CCDS28809.1
      UniProtKB/Swiss-Prot
      Q14CH7, Q68FH3, Q69ZM9
      Related
      ENSMUSP00000024733.8, ENSMUST00000024733.9
      Conserved Domains (4) summary
      smart00863
      Location:740 → 773
      tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain
      PLN02900
      Location:34 → 978
      PLN02900; alanyl-tRNA synthetase
      cd00673
      Location:37 → 275
      AlaRS_core; Alanyl-tRNA synthetase (AlaRS) class II core catalytic domain. AlaRS is a homodimer. It is responsible for the attachment of alanine to the 3' OH group of ribose of the appropriate tRNA. This domain is primarily responsible for ATP-dependent formation of ...
      cl08469
      Location:549 → 651
      tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional 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_000083.7 Reference GRCm39 C57BL/6J

      Range
      45817473..45831769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017317440.2 → XP_017172929.1  alanine--tRNA ligase, mitochondrial isoform X2

      Conserved Domains (1) summary
      PLN02900
      Location:19 → 618
      PLN02900; alanyl-tRNA synthetase

    2. XM_011246401.4 → XP_011244703.1  alanine--tRNA ligase, mitochondrial isoform X1

      Conserved Domains (1) summary
      PLN02900
      Location:7 → 641
      PLN02900; alanyl-tRNA synthetase

    RNA

    1. XR_385317.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14CH7.1 GenPept UniProtKB/Swiss-Prot:Q14CH7

    Gene LinkOut

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

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