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    AARS2 alanyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 57505, updated on 5-Mar-2024

    Summary

    Official Symbol
    AARS2provided by HGNC
    Official Full Name
    alanyl-tRNA synthetase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:21022
    See related
    Ensembl:ENSG00000124608 MIM:612035; AllianceGenome:HGNC:21022
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AARSL; LKENP; COXPD8; MTALARS; MT-ALARS
    Summary
    The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in small intestine (RPKM 2.7), ovary (RPKM 2.7) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See AARS2 in Genome Data Viewer
    Location:
    6p21.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (44298731..44313347, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (44132875..44147515, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (44266468..44281084, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene RNA polymerase I and III subunit C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24635 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24637 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44232415-44232914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:44243146-44243938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17263 Neighboring gene uncharacterized LOC124901322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:44280829-44281388 Neighboring gene transmembrane protein 151B Neighboring gene NFKB inhibitor epsilon Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_91950 Neighboring gene t-complex-associated-testis-expressed 1 Neighboring gene uncharacterized LOC124901323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24638 Neighboring gene spermatogenesis associated serine rich 1 Neighboring gene cell division cycle 5 like

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1270

    Gene Ontology Provided by GOA

    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables aminoacyl-tRNA editing activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    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 aminoacyl-tRNA metabolism involved in translational fidelity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitochondrial alanyl-tRNA aminoacylation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    alanine--tRNA ligase, mitochondrial
    Names
    alanine tRNA ligase 2, mitochondrial (putative)
    alanyl-tRNA synthetase 2, mitochondrial (putative)
    alanyl-tRNA synthetase like
    probable alanyl-tRNA synthetase, mitochondrial
    NP_065796.2
    XP_005249302.1
    XP_054212038.1

    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.

    Genomic

    1. NG_031952.2 RefSeqGene

      Range
      5000..19616
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020745.4NP_065796.2  alanine--tRNA ligase, mitochondrial

      Status: REVIEWED

      Source sequence(s)
      AL353588
      Consensus CDS
      CCDS34464.1
      UniProtKB/Swiss-Prot
      A2RRN5, Q5JTZ9, Q8N198, Q96D02, Q9ULF0
      Related
      ENSP00000244571.4, ENST00000244571.5
      Conserved Domains (1) summary
      cl28133
      Location:46983
      tRNA-synt_2c; tRNA synthetases class II (A)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      44298731..44313347 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005249245.4XP_005249302.1  alanine--tRNA ligase, mitochondrial isoform X1

      Conserved Domains (3) summary
      PLN02900
      Location:46886
      PLN02900; alanyl-tRNA synthetase
      cd00673
      Location:46249
      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:457681
      tRNA_SAD; Threonyl and Alanyl tRNA synthetase second additional domain

    RNA

    1. XR_007059282.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      44132875..44147515 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356063.1XP_054212038.1  alanine--tRNA ligase, mitochondrial isoform X1

    RNA

    1. XR_008487367.1 RNA Sequence