• Gene id: 3376

Gene Summary

• Gene Symbol: IARS1   Gene   UCSC   Ensembl
• Aliases: GRIDHH, IARS, ILERS, ILRS, IRS, PRO0785
• Gene name: isoleucyl-tRNA synthetase 1
• Alternate names: isoleucine--tRNA ligase, cytoplasmic, isoleucine tRNA ligase 1, cytoplasmic,
• Gene location: 9q22.31 (92293696: 92210206)     Exons: 35     NC_000009.12
• Gene summary(Entrez): 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 prot
• OMIM: 600709

Protein Summary

• Protein general information: P41252  
  • Name: Isoleucine tRNA ligase, cytoplasmic (EC 6.1.1.5) (Isoleucyl tRNA synthetase) (IRS) (IleRS)
  • Length: 1262  
  • Mass: 144498
  • Tissue specificity: Expressed in liver and muscle (at protein level). {ECO
• Sequence:

  MLQQVPENINFPAEEEKILEFWTEFNCFQECLKQSKHKPKFTFYDGPPFATGLPHYGHILAGTIKDIVTRYAHQS
  GFHVDRRFGWDCHGLPVEYEIDKTLGIRGPEDVAKMGITEYNNQCRAIVMRYSAEWKSTVSRLGRWIDFDNDYKT
  LYPQFMESVWWVFKQLYDKGLVYRGVKVMPFSTACNTPLSNFESHQNYKDVQDPSVFVTFPLEEDETVSLVAWTT
  TPWTLPSNLAVCVNPEMQYVKIKDVARGRLLILMEARLSALYKLESDYEILERFPGAYLKGKKYRPLFDYFLKCK
  ENGAFTVLVDNYVKEEEGTGVVHQAPYFGAEDYRVCMDFNIIRKDSLPVCPVDASGCFTTEVTDFAGQYVKDADK
  SIIRTLKEQGRLLVATTFTHSYPFCWRSDTPLIYKAVPSWFVRVENMVDQLLRNNDLCYWVPELVREKRFGNWLK
  DARDWTISRNRYWGTPIPLWVSDDFEEVVCIGSVAELEELSGAKISDLHRESVDHLTIPSRCGKGSLHRISEVFD
  CWFESGSMPYAQVHYPFENKREFEDAFPADFIAEGIDQTRGWFYTLLVLATALFGQPPFKNVIVNGLVLASDGQK
  MSKRKKNYPDPVSIIQKYGADALRLYLINSPVVRAENLRFKEEGVRDVLKDVLLPWYNAYRFLIQNVLRLQKEEE
  IEFLYNENTVRESPNITDRWILSFMQSLIGFFETEMAAYRLYTVVPRLVKFVDILTNWYVRMNRRRLKGENGMED
  CVMALETLFSVLLSLCRLMAPYTPFLTELMYQNLKVLIDPVSVQDKDTLSIHYLMLPRVREELIDKKTESAVSQM
  QSVIELGRVIRDRKTIPIKYPLKEIVVIHQDPEALKDIKSLEKYIIEELNVRKVTLSTDKNKYGIRLRAEPDHMV
  LGKRLKGAFKAVMTSIKQLSSEELEQFQKTGTIVVEGHELHDEDIRLMYTFDQATGGTAQFEAHSDAQALVLLDV
  TPDQSMVDEGMAREVINRIQKLRKKCNLVPTDEITVYYKAKSEGTYLNSVIESHTEFIFTTIKAPLKPYPVSPSD
  KVLIQEKTQLKGSELEITLTRGSSLPGPACAYVNLNICANGSEQGGVLLLENPKGDNRLDLLKLKSVVTSIFGVK
  NTELAVFHDETEIQNQTDLLSLSGKTLCVTAGSAPSLINSSSTLLCQYINLQLLNAKPQECLMGTVGTLLLENPL
  GQNGLTHQGLLYEAAKVFGLRSRKLKLFLNETQTQEITEDIPVKTLNMKTVYVSVLPTTADF

• Structural information:
  • Interpro: IPR001412  IPR002300  IPR033709  IPR002301  IPR023586   IPR013155  IPR014729  IPR009080  IPR009008  
  • Prosite: PS00178
  • CDD: cd07961
  • STRING: ENSP00000364794
• Other Databases: GeneCards:  IARS1  Malacards:  IARS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004822	isoleucine-tRNA ligase activity	IBA	molecular function
GO:0006428	isoleucyl-tRNA aminoacylation	IBA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IDA	cellular component
GO:0006428	isoleucyl-tRNA aminoacylation	IDA	biological process
GO:0004822	isoleucine-tRNA ligase activity	IDA	molecular function
GO:0000049	tRNA binding	IEA	molecular function
GO:0002161	aminoacyl-tRNA editing activity	IEA	molecular function
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0006418	tRNA aminoacylation for protein translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0004822	isoleucine-tRNA ligase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006428	isoleucyl-tRNA aminoacylation	IEA	biological process
GO:0006412	translation	IEA	biological process
GO:0004812	aminoacyl-tRNA ligase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016874	ligase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0004822	isoleucine-tRNA ligase activity	IEA	molecular function
GO:0006428	isoleucyl-tRNA aminoacylation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0004822	isoleucine-tRNA ligase activity	IDA	molecular function
GO:0004822	isoleucine-tRNA ligase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006418	tRNA aminoacylation for protein translation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0017101	aminoacyl-tRNA synthetase multienzyme complex	IEA	cellular component
GO:0006428	isoleucyl-tRNA aminoacylation	IEA	biological process
GO:0004822	isoleucine-tRNA ligase activity	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0106074	aminoacyl-tRNA metabolism involved in translational fidelity	IEA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0001649	osteoblast differentiation	HDA	biological process
GO:0016020	membrane	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051020	GTPase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa00970	Aminoacyl-tRNA biosynthesis

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)