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    aars1 alanyl-tRNA synthetase 1 [ Danio rerio (zebrafish) ]

    Gene ID: 324940, updated on 2-Nov-2024

    Summary

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    Official Symbol
    aars1provided by ZNC
    Official Full Name
    alanyl-tRNA synthetase 1provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-030131-3663
    See related
    Ensembl:ENSDARG00000069142 AllianceGenome:ZFIN:ZDB-GENE-030131-3663
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    aars; im:7146712; wu:fc48h07; zgc:113920; si:ch211-223o1.6
    Summary
    Predicted to enable alanine-tRNA ligase activity and aminoacyl-tRNA editing activity. Predicted to be involved in alanyl-tRNA aminoacylation. Predicted to act upstream of or within tRNA aminoacylation and translation. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in several structures, including brain; digestive system; optic cup; pectoral fin bud; and swim bladder. 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, Nov 2024]
    Orthologs
    human mouse all
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    Genomic context

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    See aars1 in Genome Data Viewer
    Location:
    chromosome: 18
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 18 NC_007129.7 (18636273..18667451, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 18 NC_007129.6 (18647207..18678385, complement)

    Chromosome 18 - NC_007129.7Genomic Context describing neighboring genes Neighboring gene splicing factor 3b, subunit 3 Neighboring gene small nucleolar RNA SNORD111 Neighboring gene ST3 beta-galactoside alpha-2,3-sialyltransferase 2 Neighboring gene uncharacterized LOC110438089 Neighboring gene alanine--tRNA ligase, cytoplasmic-like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. Weterman MAJ, et al. Hum Mol Genet, 2018 Dec 1. PMID 30124830, Free PMC Article
    2. Nrf2 dictates the neuronal survival and differentiation of embryonic zebrafish harboring compromised alanyl-tRNA synthetase. Jin B, et al. Development, 2022 Sep 1. PMID 35929539
    3. Systematic expression profiling of neuropathy-related aminoacyl-tRNA synthetases in zebrafish during development. Giong HK, et al. Biochem Biophys Res Commun, 2022 Jan 8. PMID 34872004
    4. Utilising polymorphisms to achieve allele-specific genome editing in zebrafish. Capon SJ, et al. Biol Open, 2017 Jan 15. PMID 27895053, Free PMC Article
    5. Transcriptome analysis of zebrafish embryogenesis using microarrays. Mathavan S, et al. PLoS Genet, 2005 Aug. PMID 16132083, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC113920, MGC158129, MGC198394, MGC198396

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA 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 aminoacyl-tRNA editing activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables aminoacyl-tRNA ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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
    		  
    acts_upstream_of_or_within alanyl-tRNA aminoacylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within tRNA aminoacylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within translation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    alanine--tRNA ligase, cytoplasmic
    NP_001035124.2
    NP_001037775.1
    XP_005159107.1

    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_001040035.2 → NP_001035124.2  alanine--tRNA ligase, cytoplasmic isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' CDS and uses an alternate 3' terminal exon compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus and a distinct, shorter C-terminus compared to isoform 1.
      Source sequence(s)
      BX649641
      UniProtKB/TrEMBL
      A0A8M1N8I8, F1QBG7
      Related
      ENSDARP00000071166.4, ENSDART00000076695.6
      Conserved Domains (1) summary
      cd00673
      Location:7 → 254
      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 ...

    2. NM_001044310.2 → NP_001037775.1  alanine--tRNA ligase, cytoplasmic isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BX649641
      UniProtKB/TrEMBL
      A0A8M1N8X4, Q1LVL3
      Related
      ENSDARP00000120649.1, ENSDART00000136544.3
      Conserved Domains (4) summary
      PLN02900
      Location:31 → 984
      PLN02900; alanyl-tRNA synthetase
      cd00673
      Location:32 → 279
      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 ...
      pfam02272
      Location:911 → 982
      DHHA1; DHHA1 domain
      pfam07973
      Location:719 → 777
      tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007129.7 Reference GRCz11 Primary Assembly

      Range
      18636273..18667451 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005159050.5 → XP_005159107.1  alanine--tRNA ligase, cytoplasmic isoform X1

      UniProtKB/TrEMBL
      A0A8M2B5M3, Q1LVL2
      Related
      ENSDARP00000091174.4, ENSDART00000100401.6
      Conserved Domains (4) summary
      PLN02900
      Location:6 → 959
      PLN02900; alanyl-tRNA synthetase
      cd00673
      Location:7 → 254
      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 ...
      pfam02272
      Location:886 → 957
      DHHA1; DHHA1 domain
      pfam07973
      Location:694 → 752
      tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

    Reference GRCz11 ALT_DRER_TU_1

    Genomic

    1. NW_018395020.1 Reference GRCz11 ALT_DRER_TU_1

      Range
      8410..39932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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