U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    IARS1 isoleucyl-tRNA synthetase 1 [ Homo sapiens (human) ]

    Gene ID: 3376, updated on 7-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    IARS1provided by HGNC
    Official Full Name
    isoleucyl-tRNA synthetase 1provided by HGNC
    Primary source
    HGNC:HGNC:5330
    See related
    Ensembl:ENSG00000196305 MIM:600709; AllianceGenome:HGNC:5330
    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
    IRS; IARS; ILRS; ILERS; GRIDHH; PRO0785
    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. Isoleucine-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family and has been identified as a target of autoantibodies in the autoimmune disease polymyositis/dermatomyositis. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in thyroid (RPKM 50.6), appendix (RPKM 20.9) and 25 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    9q22.31
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92210207..92293697, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104376735..104460226, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (94972489..95055979, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94951003-94951746 Neighboring gene serine protease 47, pseudogene Neighboring gene uncharacterized LOC112268048 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:94976657-94977553 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95012769-95013269 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28593 Neighboring gene microRNA 3651 Neighboring gene small nucleolar RNA, H/ACA box 84 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:95086914-95087802 Neighboring gene phagosome assembly factor 1 pseudogene Neighboring gene nucleolar protein 8 Neighboring gene centromere protein P

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. Smigiel R, et al. Clin Genet, 2017 Dec. PMID 29052218
    2. Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. Orenstein N, et al. Clin Genet, 2017 Jun. PMID 27891590, Free PMC Article
    3. Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension. Nichols RC, et al. Gene, 1995 Apr 3. PMID 7721108
    4. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. Kopajtich R, et al. Am J Hum Genet, 2016 Aug 4. PMID 27426735, Free PMC Article
    5. Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene. Degoul F, et al. Hum Mol Genet, 1998 Mar. PMID 9466989

    See all (198) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Our report presents new evidence that recessive mutations inIARSgene are associated with characteristic clinical phenotype suchas infantile hepatopathy, growth retardation, facial dysmorphism,hypotonia, intellectual disability with no speech .
      Title: New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation.
    2. bi-allelic mutations in cytosolic isoleucyl-tRNA synthetase (IARS) have been described in three individuals with growth delay, hepatic dysfunction, and neurodevelopmental disabilities. Here we report an additional subject with this condition identified by whole-exome sequencing. Our findings support the association between this disorder and neonatal cholestasis with distinct liver pathology
      Title: Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.
    3. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
      Title: Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
    MedGen: C4310720 OMIM: 617093 GeneReviews: Not available
    		Compare labs

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

    Go to the top of the page Help

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify isoleucyl-tRNA synthetase (IARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify isoleucyl-tRNA synthetase (IARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify isoleucyl-tRNA synthetase (IARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify isoleucyl-tRNA synthetase (IARS), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    matrix gag HIV-1 MA is identified to have a physical interaction with isoleucyl-tRNA synthetase (IARS) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • FLJ20736, FLJ41915, FLJ45144

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables GTPase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables isoleucine-tRNA ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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
    		  
    acts_upstream_of_or_within isoleucyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in isoleucyl-tRNA aminoacylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in osteoblast differentiation HDA PubMed 
    involved_in tRNA aminoacylation for protein translation TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    part_of aminoacyl-tRNA synthetase multienzyme complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    isoleucine--tRNA ligase, cytoplasmic
    Names
    isoleucine tRNA ligase 1, cytoplasmic
    NP_001361228.1
    NP_001361229.1
    NP_001361230.1
    NP_001365498.1
    NP_001365500.1
    NP_001365501.1
    NP_001365502.1
    NP_001365503.1
    NP_001365504.1
    NP_001365505.1
    NP_001365506.1
    NP_001365507.1
    NP_001365508.1
    NP_001365509.1
    NP_001365511.1
    NP_001365512.1
    NP_001365513.1
    NP_001365514.1
    NP_001365515.1
    NP_002152.2
    NP_038203.2

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_051498.1 RefSeqGene

      Range
      5060..88550
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001374299.1 → NP_001361228.1  isoleucine--tRNA ligase, cytoplasmic isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS94438.1
      UniProtKB/TrEMBL
      A0A804HL54, Q59G75
      Related
      ENSP00000508205.1, ENST00000684557.1
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1046
      PLN02882; aminoacyl-tRNA ligase

    2. NM_001374300.1 → NP_001361229.1  isoleucine--tRNA ligase, cytoplasmic isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS94438.1
      UniProtKB/TrEMBL
      A0A804HL54, Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1046
      PLN02882; aminoacyl-tRNA ligase

    3. NM_001374301.1 → NP_001361230.1  isoleucine--tRNA ligase, cytoplasmic isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1043
      PLN02882; aminoacyl-tRNA ligase

    4. NM_001378569.1 → NP_001365498.1  isoleucine--tRNA ligase, cytoplasmic isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1092
      PLN02882; aminoacyl-tRNA ligase

    5. NM_001378571.1 → NP_001365500.1  isoleucine--tRNA ligase, cytoplasmic isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1078
      PLN02882; aminoacyl-tRNA ligase

    6. NM_001378572.1 → NP_001365501.1  isoleucine--tRNA ligase, cytoplasmic isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    7. NM_001378573.1 → NP_001365502.1  isoleucine--tRNA ligase, cytoplasmic isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS6694.1
      UniProtKB/Swiss-Prot
      A8KAE9, P41252, Q5TCD0, Q7Z3T4, Q9H588
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    8. NM_001378574.1 → NP_001365503.1  isoleucine--tRNA ligase, cytoplasmic isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS6694.1
      UniProtKB/Swiss-Prot
      A8KAE9, P41252, Q5TCD0, Q7Z3T4, Q9H588
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    9. NM_001378575.1 → NP_001365504.1  isoleucine--tRNA ligase, cytoplasmic isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS6694.1
      UniProtKB/Swiss-Prot
      A8KAE9, P41252, Q5TCD0, Q7Z3T4, Q9H588
      UniProtKB/TrEMBL
      Q59G75
      Related
      ENSP00000507144.1, ENST00000683565.1
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    10. NM_001378576.1 → NP_001365505.1  isoleucine--tRNA ligase, cytoplasmic isoform 1

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS6694.1
      UniProtKB/Swiss-Prot
      A8KAE9, P41252, Q5TCD0, Q7Z3T4, Q9H588
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    11. NM_001378577.1 → NP_001365506.1  isoleucine--tRNA ligase, cytoplasmic isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      A0A804HHW9
      Related
      ENSP00000506798.1, ENST00000682578.1
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1143
      PLN02882; aminoacyl-tRNA ligase

    12. NM_001378578.1 → NP_001365507.1  isoleucine--tRNA ligase, cytoplasmic isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS94439.1
      UniProtKB/TrEMBL
      A0A804HJN6, Q59G75
      Related
      ENSP00000507577.1, ENST00000683679.1
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    13. NM_001378579.1 → NP_001365508.1  isoleucine--tRNA ligase, cytoplasmic isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS94439.1
      UniProtKB/TrEMBL
      A0A804HJN6, Q59G75
      Related
      ENSP00000507286.1, ENST00000683469.1
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    14. NM_001378580.1 → NP_001365509.1  isoleucine--tRNA ligase, cytoplasmic isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS94439.1
      UniProtKB/TrEMBL
      A0A804HJN6, Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    15. NM_001378582.1 → NP_001365511.1  isoleucine--tRNA ligase, cytoplasmic isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1039
      PLN02882; aminoacyl-tRNA ligase

    16. NM_001378583.1 → NP_001365512.1  isoleucine--tRNA ligase, cytoplasmic isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1030
      PLN02882; aminoacyl-tRNA ligase

    17. NM_001378584.1 → NP_001365513.1  isoleucine--tRNA ligase, cytoplasmic isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1046
      PLN02882; aminoacyl-tRNA ligase

    18. NM_001378585.1 → NP_001365514.1  isoleucine--tRNA ligase, cytoplasmic isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      A0A804HHW9
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    19. NM_001378586.1 → NP_001365515.1  isoleucine--tRNA ligase, cytoplasmic isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL136097
      UniProtKB/TrEMBL
      Q59G75
      Related
      ENSP00000415020.3, ENST00000447699.7

    20. NM_002161.6 → NP_002152.2  isoleucine--tRNA ligase, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_002152.2

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS6694.1
      UniProtKB/Swiss-Prot
      A8KAE9, P41252, Q5TCD0, Q7Z3T4, Q9H588
      UniProtKB/TrEMBL
      Q59G75
      Related
      ENSP00000406448.4, ENST00000443024.7
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    21. NM_013417.4 → NP_038203.2  isoleucine--tRNA ligase, cytoplasmic isoform 1

      See identical proteins and their annotated locations for NP_038203.2

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Consensus CDS
      CCDS6694.1
      UniProtKB/Swiss-Prot
      A8KAE9, P41252, Q5TCD0, Q7Z3T4, Q9H588
      UniProtKB/TrEMBL
      Q59G75
      Related
      ENSP00000364794.3, ENST00000375643.7
      Conserved Domains (1) summary
      PLN02882
      Location:6 → 1071
      PLN02882; aminoacyl-tRNA ligase

    RNA

    1. NR_073446.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL136097
      Related
      ENST00000627121.3

    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_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      92210207..92293697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791788.1 Reference GRCh38.p14 PATCHES

      Range
      44936..128426 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      104376735..104460226 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41252.2 GenPept UniProtKB/Swiss-Prot:P41252

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous