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

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

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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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
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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.

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.

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