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    Aars1 alanyl-tRNA synthetase 1 [ Mus musculus (house mouse) ]

    Gene ID: 234734, updated on 9-Dec-2024

    Summary

    Official Symbol
    Aars1provided by MGI
    Official Full Name
    alanyl-tRNA synthetase 1provided by MGI
    Primary source
    MGI:MGI:2384560
    See related
    Ensembl:ENSMUSG00000031960 AllianceGenome:MGI:2384560
    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
    sti; Aars
    Summary
    Enables Ser-tRNA(Ala) hydrolase activity and alanine-tRNA ligase activity. Involved in alanyl-tRNA aminoacylation; regulation of cytoplasmic translational fidelity; and tRNA modification. Acts upstream of or within cerebellar Purkinje cell layer development; negative regulation of neuron apoptotic process; and neuromuscular process controlling balance. Predicted to be located in cytosol. Predicted to be active in mitochondrion and nucleus. Is expressed in several structures, including adrenal gland; alimentary system; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; leukodystrophy; and trichothiodystrophy. Orthologous to human AARS1 (alanyl-tRNA synthetase 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in cerebellum adult (RPKM 31.7), liver adult (RPKM 27.0) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Aars1 in Genome Data Viewer
    Location:
    8 E1; 8 57.9 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (111759781..111784237)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (111027778..111055569)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene DEAD box helicase 19a Neighboring gene STARR-seq mESC enhancer starr_22687 Neighboring gene predicted gene, 51551 Neighboring gene DEAD box helicase 19b Neighboring gene microRNA 3473d Neighboring gene STARR-positive B cell enhancer ABC_E566 Neighboring gene exosome component 6 Neighboring gene predicted gene, 38523 Neighboring gene nuclear encoded tRNA glycine 2 (anticodon GCC) Neighboring gene C-type lectin domain family 18, member A

    Genomic regions, transcripts, and products

    Expression

    • 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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC37368

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables Ser-tRNA(Ala) hydrolase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables Ser-tRNA(Ala) hydrolase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables alanine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables alanine-tRNA ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables alanine-tRNA ligase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables amino acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables amino acid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables aminoacyl-tRNA editing activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables aminoacyl-tRNA editing activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables aminoacyl-tRNA editing activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables peptide lactyltransferase (ATP-dependent) activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables tRNA binding ISO
    Inferred from Sequence Orthology
    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 alanyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within alanyl-tRNA aminoacylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in alanyl-tRNA aminoacylation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in aminoacyl-tRNA metabolism involved in translational fidelity IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cerebellar Purkinje cell layer development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within negative regulation of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of signal transduction by p53 class mediator ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within neuromuscular process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuromuscular process controlling balance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of neuron apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of hippo signaling ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cytoplasmic translational fidelity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tRNA modification IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within tRNA modification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in tRNA modification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    alanine--tRNA ligase, cytoplasmic
    Names
    alaRS
    alanyl-tRNA synthetase, cytoplasmic
    protein lactyltransferase AARS1
    protein sticky
    NP_666329.2
    XP_006530985.1
    XP_006530987.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_146217.4NP_666329.2  alanine--tRNA ligase, cytoplasmic

      See identical proteins and their annotated locations for NP_666329.2

      Status: VALIDATED

      Source sequence(s)
      AA416313, AK085725, AK150227, BM943271
      Consensus CDS
      CCDS40478.1
      UniProtKB/Swiss-Prot
      Q8BGQ7, Q8BXR0
      UniProtKB/TrEMBL
      Q6XMP4
      Related
      ENSMUSP00000034441.8, ENSMUST00000034441.8
      Conserved Domains (1) summary
      PLN02900
      Location:6961
      PLN02900; alanyl-tRNA synthetase

    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_000074.7 Reference GRCm39 C57BL/6J

      Range
      111759781..111784237
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530922.2XP_006530985.1  alanine--tRNA ligase, cytoplasmic isoform X1

      See identical proteins and their annotated locations for XP_006530985.1

      UniProtKB/Swiss-Prot
      Q8BGQ7, Q8BXR0
      UniProtKB/TrEMBL
      Q6XMP4
      Conserved Domains (1) summary
      PLN02900
      Location:6961
      PLN02900; alanyl-tRNA synthetase
    2. XM_006530924.2XP_006530987.1  alanine--tRNA ligase, cytoplasmic isoform X1

      See identical proteins and their annotated locations for XP_006530987.1

      UniProtKB/Swiss-Prot
      Q8BGQ7, Q8BXR0
      UniProtKB/TrEMBL
      Q6XMP4
      Conserved Domains (1) summary
      PLN02900
      Location:6961
      PLN02900; alanyl-tRNA synthetase