Human Gene IARS1 (ENST00000375643.7) from GENCODE V44
  Description: Homo sapiens isoleucyl-tRNA synthetase 1 (IARS1), transcript variant 2, mRNA. (from RefSeq NM_013417)
RefSeq Summary (NM_013417): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000375643.7
Gencode Gene: ENSG00000196305.19
Transcript (Including UTRs)
   Position: hg38 chr9:92,210,207-92,293,700 Size: 83,494 Total Exon Count: 34 Strand: -
Coding Region
   Position: hg38 chr9:92,210,807-92,289,419 Size: 78,613 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersRNA-Seq ExpressionMicroarray Expression
RNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:92,210,207-92,293,700)mRNA (may differ from genome)Protein (1262 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaAlphaFoldBioGPS
EnsemblEntrez GeneExonPrimerGencodeGeneCardsHPRD
MalacardsMGIneXtProtOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYIC_HUMAN
DESCRIPTION: RecName: Full=Isoleucine--tRNA ligase, cytoplasmic; EC=6.1.1.5; AltName: Full=Isoleucyl-tRNA synthetase; Short=IRS; Short=IleRS;
CATALYTIC ACTIVITY: ATP + L-isoleucine + tRNA(Ile) = AMP + diphosphate + L-isoleucyl-tRNA(Ile).
SUBUNIT: Part of a multisubunit complex that groups tRNA ligases for Arg, Asp, Glu, Gln, Ile, Leu, Lys, Met and Pro.
INTERACTION: P07814:EPRS; NbExp=4; IntAct=EBI-355303, EBI-355315;
SUBCELLULAR LOCATION: Cytoplasm.
SIMILARITY: Belongs to the class-I aminoacyl-tRNA synthetase family.
SEQUENCE CAUTION: Sequence=BAA05835.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 44.51 RPKM in Cells - Cultured fibroblasts
Total median expression: 716.61 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.00267-0.337 Picture PostScript Text
3' UTR -114.40600-0.191 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001412 - aa-tRNA-synth_I_CS
IPR002300 - aa-tRNA-synth_Ia
IPR002301 - Ile-tRNA-ligase
IPR023586 - Ile-tRNA-ligase_type2
IPR014729 - Rossmann-like_a/b/a_fold
IPR009080 - tRNAsynth_1a_anticodon-bd
IPR013155 - V/L/I-tRNA-synth_anticodon-bd
IPR009008 - Val/Leu/Ile-tRNA-synth_edit

Pfam Domains:
PF08264 - Anticodon-binding domain of tRNA
PF00133 - tRNA synthetases class I (I, L, M and V)

ModBase Predicted Comparative 3D Structure on P41252
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000049 tRNA binding
GO:0000166 nucleotide binding
GO:0002161 aminoacyl-tRNA editing activity
GO:0004812 aminoacyl-tRNA ligase activity
GO:0004822 isoleucine-tRNA ligase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016874 ligase activity
GO:0051020 GTPase binding

Biological Process:
GO:0001649 osteoblast differentiation
GO:0006412 translation
GO:0006418 tRNA aminoacylation for protein translation
GO:0006428 isoleucyl-tRNA aminoacylation

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016020 membrane
GO:0017101 aminoacyl-tRNA synthetase multienzyme complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC065552 - Homo sapiens isoleucyl-tRNA synthetase, mRNA (cDNA clone MGC:70727 IMAGE:6043344), complete cds.
BX647236 - Homo sapiens mRNA; cDNA DKFZp686N1353 (from clone DKFZp686N1353).
BX647430 - Homo sapiens mRNA; cDNA DKFZp686A24149 (from clone DKFZp686A24149).
BX537417 - Homo sapiens mRNA; cDNA DKFZp686L0869 (from clone DKFZp686L0869); complete cds.
BX647071 - Homo sapiens mRNA; cDNA DKFZp686F05145 (from clone DKFZp686F05145).
BX648567 - Homo sapiens mRNA; cDNA DKFZp779G0355 (from clone DKFZp779G0355).
D28473 - Homo sapiens mRNA for isoleucyl-tRNA synthetase, complete cds.
AK293014 - Homo sapiens cDNA FLJ77250 complete cds, highly similar to Homo sapiens isoleucine-tRNA synthetase (IARS), transcript variant short, mRNA.
U04953 - Human isoleucyl-tRNA synthetase mRNA, complete cds.
AK301272 - Homo sapiens cDNA FLJ55373 complete cds, highly similar to Isoleucyl-tRNA synthetase, cytoplasmic (EC 6.1.1.5).
BX537429 - Homo sapiens mRNA; cDNA DKFZp686O10151 (from clone DKFZp686O10151).
BX538109 - Homo sapiens mRNA; cDNA DKFZp686L17145 (from clone DKFZp686L17145); complete cds.
AB209234 - Homo sapiens mRNA for Isoleucyl-tRNA synthetase, cytoplasmic variant protein.
EU832046 - Synthetic construct Homo sapiens clone HAIB:100067075; DKFZo004E0524 isoleucyl-tRNA synthetase protein (IARS) gene, encodes complete protein.
EU831952 - Synthetic construct Homo sapiens clone HAIB:100066981; DKFZo008E0523 isoleucyl-tRNA synthetase protein (IARS) gene, encodes complete protein.
AB527298 - Synthetic construct DNA, clone: pF1KB4033, Homo sapiens IARS gene for isoleucyl-tRNA synthetase, without stop codon, in Flexi system.
AK308202 - Homo sapiens cDNA, FLJ98150.
BC008318 - Homo sapiens isoleucyl-tRNA synthetase, mRNA (cDNA clone IMAGE:3343584), partial cds.
AK123909 - Homo sapiens cDNA FLJ41915 fis, clone PERIC2001504.
AK127087 - Homo sapiens cDNA FLJ45144 fis, clone BRAWH3040950.
AF113680 - Homo sapiens clone FLB3126 PRO0785 mRNA, complete cds.
JD503739 - Sequence 484763 from Patent EP1572962.
JD377839 - Sequence 358863 from Patent EP1572962.
JD086015 - Sequence 67039 from Patent EP1572962.
JD336339 - Sequence 317363 from Patent EP1572962.
JD549431 - Sequence 530455 from Patent EP1572962.
AK057920 - Homo sapiens cDNA FLJ25191 fis, clone CBR09572.
JD289431 - Sequence 270455 from Patent EP1572962.
JD299132 - Sequence 280156 from Patent EP1572962.
JD192252 - Sequence 173276 from Patent EP1572962.
JD210431 - Sequence 191455 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00290 - Valine, leucine and isoleucine biosynthesis
hsa00970 - Aminoacyl-tRNA biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein P41252 (Reactome details) participates in the following event(s):

R-HSA-380008 lysine + tRNA(Lys) + ATP => Lys-tRNA(Lys) + AMP + pyrophosphate
R-HSA-379974 leucine + tRNA(Leu) + ATP => Leu-tRNA(Leu) + AMP + pyrophosphate
R-HSA-379861 glutamate + tRNA(Glu) + ATP => Glu-tRNA(Glu) + AMP + pyrophosphate
R-HSA-379893 isoleucine + tRNA(Ile) + ATP => Ile-tRNA(Ile) + AMP + pyrophosphate
R-HSA-379865 proline + tRNA(Pro) + ATP => Pro-tRNA(Pro) + AMP + pyrophosphate
R-HSA-379994 methionine + tRNA(Met) + ATP => Met-tRNA(Met) + AMP + pyrophosphate
R-HSA-379867 aspartate + tRNA(Asp) + ATP => Asp-tRNA(Asp) + AMP + pyrophosphate
R-HSA-379982 glutamine + tRNA(Gln) + ATP => Gln-tRNA(Gln) + AMP + pyrophosphate
R-HSA-379993 arginine + tRNA(Arg) + ATP => Arg-tRNA(Arg) + AMP + pyrophosphate
R-HSA-2408546 tRNA(Met) is selenomethionylated to SeMet-tRNA(Met) by multisynthetase complex
R-HSA-379716 Cytosolic tRNA aminoacylation
R-HSA-2408517 SeMet incorporation into proteins
R-HSA-379724 tRNA Aminoacylation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-72766 Translation
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-392499 Metabolism of proteins
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8KAE9, ENST00000375643.1, ENST00000375643.2, ENST00000375643.3, ENST00000375643.4, ENST00000375643.5, ENST00000375643.6, IARS, NM_013417, P41252, Q5TCD0, Q7Z3T4, Q9H588, SYIC_HUMAN, uc004art.1, uc004art.2, uc004art.3, uc004art.4
UCSC ID: ENST00000375643.7
RefSeq Accession: NM_013417
Protein: P41252 (aka SYIC_HUMAN)
CCDS: CCDS6694.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.