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    IARS2 isoleucyl-tRNA synthetase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 55699, updated on 5-May-2024

    Summary

    Official Symbol
    IARS2provided by HGNC
    Official Full Name
    isoleucyl-tRNA synthetase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:29685
    See related
    Ensembl:ENSG00000067704 MIM:612801; AllianceGenome:HGNC:29685
    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
    ILERS; CAGSSS
    Summary
    Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in fat (RPKM 38.4), kidney (RPKM 32.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    1q41
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (220094132..220148041)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (219333406..219387315)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (220267474..220321383)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA U13 Neighboring gene glutamyl-prolyl-tRNA synthetase 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:220200073-220200574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:220219000-220219557 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2551 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2552 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4904 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2553 Neighboring gene 3'(2'), 5'-bisphosphate nucleotidase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2554 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1823 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:220267703-220268202 Neighboring gene uncharacterized LOC105373475 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_4917 Neighboring gene uncharacterized LOC124904515 Neighboring gene microRNA 194-1 Neighboring gene small nucleolar RNA U13 Neighboring gene microRNA 215 Neighboring gene MPRA-validated peak705 silencer Neighboring gene ribosomal protein S15a pseudogene 12 Neighboring gene RAB3 GTPase activating non-catalytic protein subunit 2 Neighboring gene small nucleolar RNA, H/ACA box 36B Neighboring gene microRNA 664a Neighboring gene sorting nexin 2 pseudogene 1

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with IARS2 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ10326

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables aminoacyl-tRNA editing activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables isoleucine-tRNA ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables isoleucine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
     
    enables tRNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in aminoacyl-tRNA metabolism involved in translational fidelity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in isoleucyl-tRNA aminoacylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in mitochondrial translation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    isoleucine--tRNA ligase, mitochondrial
    Names
    isoleucine tRNA ligase 2, mitochondrial
    isoleucine-tRNA synthetase 2, mitochondrial
    isoleucyl-tRNA synthetase, mitochondrial
    mitochondrial isoleucine tRNA synthetase
    NP_060530.3

    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_041799.1 RefSeqGene

      Range
      5020..58929
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_018060.4NP_060530.3  isoleucine--tRNA ligase, mitochondrial precursor

      See identical proteins and their annotated locations for NP_060530.3

      Status: REVIEWED

      Source sequence(s)
      BC040376, BI459732, BM149097
      Consensus CDS
      CCDS1523.1
      UniProtKB/Swiss-Prot
      B2RPG8, Q1M2P9, Q6PI85, Q7L439, Q86WU9, Q96D91, Q9H9Q8, Q9NSE4, Q9NW42
      UniProtKB/TrEMBL
      A8K5W7
      Related
      ENSP00000355889.2, ENST00000366922.3
      Conserved Domains (6) summary
      cd07960
      Location:711890
      Anticodon_Ia_Ile_BEm; Anticodon-binding domain of bacterial and eukaryotic mitochondrial isoleucyl tRNA synthetases
      cd00818
      Location:472708
      IleRS_core; catalytic core domain of isoleucyl-tRNA synthetases
      PRK05743
      Location:601011
      ileS; isoleucyl-tRNA synthetase; Reviewed
      pfam06827
      Location:9851006
      zf-FPG_IleRS; Zinc finger found in FPG and IleRS
      pfam13603
      Location:266440
      tRNA-synt_1_2; Leucyl-tRNA synthetase, Domain 2
      cl00015
      Location:107245
      nt_trans; nucleotidyl transferase superfamily

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      220094132..220148041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      219333406..219387315
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)