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 b... See more...

Aliases for IARS1 Gene

Aliases for IARS1 Gene

  • Isoleucyl-TRNA Synthetase 1 2 3 5
  • Isoleucine TRNA Ligase 1, Cytoplasmic 2 3
  • Isoleucine--TRNA Ligase, Cytoplasmic 3 4
  • Isoleucyl-TRNA Synthetase 2 4
  • EC 6.1.1.5 4 51
  • IARS 3 4
  • ILRS 2 3
  • IRS 3 4
  • EC 6.1.1 51
  • PRO0785 3
  • GRIDHH 3
  • ILERS 3
  • IARS1 5
  • IleRS 4

External Ids for IARS1 Gene

Previous HGNC Symbols for IARS1 Gene

  • IARS

Summaries for IARS1 Gene

Entrez Gene Summary for IARS1 Gene

  • 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]

GeneCards Summary for IARS1 Gene

IARS1 (Isoleucyl-TRNA Synthetase 1) is a Protein Coding gene. Diseases associated with IARS1 include Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy and Hypotonia. Among its related pathways are tRNA Aminoacylation and Viral mRNA Translation. An important paralog of this gene is IARS2.

UniProtKB/Swiss-Prot Summary for IARS1 Gene

  • Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.

Gene Wiki entry for IARS1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IARS1 Gene

Genomics for IARS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IARS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IARS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IARS1

Genomic Locations for IARS1 Gene

Genomic Locations for IARS1 Gene
chr9:92,210,207-92,293,756
(GRCh38/hg38)
Size:
83,550 bases
Orientation:
Minus strand
chr9:94,972,489-95,056,038
(GRCh37/hg19)
Size:
83,550 bases
Orientation:
Minus strand

Genomic View for IARS1 Gene

Genes around IARS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IARS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IARS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IARS1 Gene

Proteins for IARS1 Gene

  • Protein details for IARS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41252-SYIC_HUMAN
    Recommended name:
    Isoleucine--tRNA ligase, cytoplasmic
    Protein Accession:
    P41252
    Secondary Accessions:
    • A8KAE9
    • Q5TCD0
    • Q7Z3T4
    • Q9H588

    Protein attributes for IARS1 Gene

    Size:
    1262 amino acids
    Molecular mass:
    144498 Da
    Quaternary structure:
    • Part of a multisubunit complex that groups tRNA ligases for Arg (RARS1), Asp (DARS1), Gln (QARS1), Ile (IARS1), Leu (LARS1), Lys (KARS1), Met (MARS1) the bifunctional ligase for Glu and Pro (EPRS1) and the auxiliary subunits AIMP1/p43, AIMP2/p38 and EEF1E1/p18 (PubMed:19131329, PubMed:19289464).
    SequenceCaution:
    • Sequence=BAA05835.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for IARS1 Gene

Selected DME Specific Peptides for IARS1 Gene

P41252:
  • GWDCHGLP
  • PVEYEIDK
  • YKAVPSW
  • DGPPFATGLPH
  • RGWFYTL
  • DQTRGWF
  • PADFIAEG
  • TPLSNFE
  • YGADALR
  • SGSMPYAQ
  • FYDGPPFA
  • WTTTPWT
  • SRNRYWGTPIP
  • HYPFENK
  • QTRGWFY
  • FMESVWWVF
  • DFDNDYKT
  • GWDCHGLPVE
  • LAGTIKD
  • DCWFESG
  • RRFGWDCHGLP
  • RYWGTPIP
  • DYKTLYP

Post-translational modifications for IARS1 Gene

  • Ubiquitination at Lys410, Lys450, Lys868, Lys917, and Lys1051
  • Modification sites at PhosphoSitePlus

Domains & Families for IARS1 Gene

Gene Families for IARS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for IARS1 Gene

InterPro:
Blocks:
  • Aminoacyl-tRNA synthetase, class Ia
  • Isoleucyl-tRNA synthetase signature
  • tRNA synthetase, valyl/leucyl, anticodon-binding
ProtoNet:

Suggested Antigen Peptide Sequences for IARS1 Gene

GenScript: Design optimal peptide antigens:
  • IARS protein (Q6P0M4_HUMAN)
  • IARS protein (Q7L4K8_HUMAN)
  • Isoleucine--tRNA ligase (SYIC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41252

UniProtKB/Swiss-Prot:

SYIC_HUMAN :
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
Family:
  • Belongs to the class-I aminoacyl-tRNA synthetase family.
genes like me logo Genes that share domains with IARS1: view

Function for IARS1 Gene

Molecular function for IARS1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile); Xref=Rhea:RHEA:11060, Rhea:RHEA-COMP:9666, Rhea:RHEA-COMP:9695, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58045, ChEBI:CHEBI:78442, ChEBI:CHEBI:78528, ChEBI:CHEBI:456215; EC=6.1.1.5; Evidence={ECO:0000269|PubMed:8052601};.

Enzyme Numbers (IUBMB) for IARS1 Gene

Phenotypes From GWAS Catalog for IARS1 Gene

Gene Ontology (GO) - Molecular Function for IARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding IEA --
GO:0000166 nucleotide binding IEA --
GO:0002161 aminoacyl-tRNA editing activity IEA --
GO:0004812 aminoacyl-tRNA ligase activity IEA --
GO:0004822 isoleucine-tRNA ligase activity IEA,TAS --
genes like me logo Genes that share ontologies with IARS1: view
genes like me logo Genes that share phenotypes with IARS1: view

Human Phenotype Ontology for IARS1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IARS1

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for IARS1 Gene

Localization for IARS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IARS1 Gene

Cytoplasm. Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IARS1 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 3
plasma membrane 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 8052601
GO:0005829 cytosol IDA,TAS --
GO:0016020 membrane HDA 16210410
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex IEA,IDA 19131329
GO:0070062 extracellular exosome HDA 20458337
genes like me logo Genes that share ontologies with IARS1: view

Pathways & Interactions for IARS1 Gene

genes like me logo Genes that share pathways with IARS1: view

Pathways by source for IARS1 Gene

Gene Ontology (GO) - Biological Process for IARS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006412 translation IEA --
GO:0006418 tRNA aminoacylation for protein translation IEA,TAS --
GO:0006428 isoleucyl-tRNA aminoacylation IEA,IDA 8052601
GO:0106074 aminoacyl-tRNA metabolism involved in translational fidelity IEA --
genes like me logo Genes that share ontologies with IARS1: view

No data available for SIGNOR curated interactions for IARS1 Gene

Drugs & Compounds for IARS1 Gene

(6) Drugs for IARS1 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Mupirocin Approved, Investigational, Vet_approved Pharma 82
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
Isoleucine Investigational Nutra Target 30
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(3) Additional Compounds for IARS1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(1) ApexBio Compounds for IARS1 Gene

Compound Action Cas Number
Mupirocin 12650-69-0
genes like me logo Genes that share compounds with IARS1: view

Drug Products

Transcripts for IARS1 Gene

mRNA/cDNA for IARS1 Gene

21 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IARS1

Alternative Splicing Database (ASD) splice patterns (SP) for IARS1 Gene

No ASD Table

Relevant External Links for IARS1 Gene

GeneLoc Exon Structure for
IARS1

Expression for IARS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IARS1

SOURCE GeneReport for Unigene cluster for IARS1 Gene:

Hs.445403

mRNA Expression by UniProt/SwissProt for IARS1 Gene:

P41252-SYIC_HUMAN
Tissue specificity: Expressed in liver and muscle (at protein level).

Evidence on tissue expression from TISSUES for IARS1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Intestine(4.6)
  • Kidney(4.4)
  • Thyroid gland(3.8)
  • Heart(3.4)
  • Stomach(3.3)
  • Skin(3.3)
  • Lung(2.9)
  • Eye(2.9)
  • Pancreas(2.7)
  • Muscle(2.7)
  • Blood(2.4)
  • Adrenal gland(2.4)
  • Spleen(2.3)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with IARS1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for IARS1 Gene

Orthologs for IARS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IARS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IARS 30 31
  • 99.66 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IARS 30 31
  • 89.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IARS 30 31
  • 87.43 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Iars 30 17 31
  • 85.88 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Iars 30
  • 85.62 (n)
Oppossum
(Monodelphis domestica)
Mammalia IARS 31
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IARS 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IARS 30 31
  • 76.26 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IARS 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia iars 30
  • 71.56 (n)
Zebrafish
(Danio rerio)
Actinopterygii iars 30 31
  • 68.23 (n)
OneToOne
wufi46h05 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6766 30
Fruit Fly
(Drosophila melanogaster)
Insecta Aats-ile 30 31
  • 57.03 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002101 30
  • 56.44 (n)
Worm
(Caenorhabditis elegans)
Secernentea iars-1 30 31
  • 57.22 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E20549g 30
  • 56.37 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AER394W 30
  • 56 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ILS1 30 31
  • 55.56 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G10320 30
  • 58.39 (n)
Rice
(Oryza sativa)
Liliopsida Os.8879 30
Corn
(Zea mays)
Liliopsida Zm.12745 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes irs1 30
  • 56.12 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU03575 30
  • 54.86 (n)
Species where no ortholog for IARS1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for IARS1 Gene

ENSEMBL:
Gene Tree for IARS1 (if available)
TreeFam:
Gene Tree for IARS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IARS1: view image

Paralogs for IARS1 Gene

Paralogs for IARS1 Gene

Pseudogenes.org Pseudogenes for IARS1 Gene

genes like me logo Genes that share paralogs with IARS1: view

Variants for IARS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IARS1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
638353 Uncertain Significance: Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy 92,268,247(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
713722 Benign: not provided 92,271,064(-) T/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
713976 Likely Benign: not provided 92,274,512(-) T/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
717931 Benign: not provided 92,247,426(-) C/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
719347 Benign: not provided 92,245,040(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IARS1 Gene

Structural Variations from Database of Genomic Variants (DGV) for IARS1 Gene

Variant ID Type Subtype PubMed ID
esv3545129 CNV deletion 23714750
esv3621077 CNV loss 21293372
esv3891693 CNV gain 25118596
nsv1046733 CNV gain 25217958
nsv1145974 CNV duplication 26484159
nsv6615 CNV insertion 18451855

Variation tolerance for IARS1 Gene

Residual Variation Intolerance Score: 6.68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.82; 79.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IARS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IARS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IARS1 Gene

Disorders for IARS1 Gene

MalaCards: The human disease database

(6) MalaCards diseases for IARS1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search IARS1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SYIC_HUMAN
  • Growth retardation, impaired intellectual development, hypotonia, and hepatopathy (GRIDHH) [MIM:617093]: An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction. {ECO:0000269 PubMed:27426735}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with IARS1: view

No data available for Genatlas for IARS1 Gene

Publications for IARS1 Gene

  1. Human isoleucyl-tRNA synthetase: sequence of the cDNA, alternative mRNA splicing, and the characteristics of an unusually long C-terminal extension. (PMID: 7721108) Nichols RC … Plotz PH (Gene 1995) 3 4 23
  2. Human cytoplasmic isoleucyl-tRNA synthetase: selective divergence of the anticodon-binding domain and acquisition of a new structural unit. (PMID: 8052601) Shiba K … Noda T (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 23
  3. Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. (PMID: 27426735) Kopajtich R … Staufner C (American journal of human genetics 2016) 3 4
  4. Dynamic Organization of Aminoacyl-tRNA Synthetase Complexes in the Cytoplasm of Human Cells. (PMID: 19289464) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4
  5. Dissection of the structural organization of the aminoacyl-tRNA synthetase complex. (PMID: 19131329) Kaminska M … Mirande M (The Journal of biological chemistry 2009) 3 4

Products for IARS1 Gene

  • Signalway ELISA kits for IARS1

Sources for IARS1 Gene