Isoleucyl-tRNA Synthetase 1

Alternative Names

  • IARS1
  • IARS
  • ILRS
  • ILERS
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OMIM Number

600709

NCBI Gene ID

3376

Uniprot ID

P41252

Length

83,491 bases

No. of Exons

35

No. of isoforms

1

Protein Name

Isoleucine--tRNA ligase, cytoplasmic

Molecular Mass

144498 Da

Amino Acid Count

1262

Genomic Location

chr9:92,210,207-92,293,697

Gene Map Locus
9q22.31

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002161.6:c.1043_1044delQatarNC_000009.12:g.92271602_92271603delPathogenicLikely PathogenicNG_051498.1:g.27154_27155del; NM_002161.6:c.1043_1044del; NP_002152.2:p.Pro348ArgfsTer267767022762902124
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