Isoleucyl tRNA synthetase est un gène codé par le symbole IARS1. Communément appelé aussi: Isoleucine--tRNA ligase, cytoplasmic; Isoleucyl-tRNA synthetase; IRS; IARS1; IARS. Isoleucyl tRNA synthetase a une masse de 144.5kDa, une longueur d'acide aminé de 1262, et est impliqué dans Growth retardation, impaired intellectual development, hypotonia, and hepatopathy.
Nous proposons 1 des anticorps contre Isoleucyl tRNA synthetase, élevé dans Lapin, qui sont appropriés pour le WB et IHC avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé 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 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.
Spécificité tissulaire
Expressed in liver and muscle (at protein level).
Implication dans la maladie
Growth retardation, impaired intellectual development, hypotonia, and hepatopathy: An autosomal recessive disorder characterized by severe growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and hepatic dysfunction.
Similitudes de séquence
Belongs to the class-I aminoacyl-tRNA synthetase family.
Localisation cellulaire
Cytoplasm. Cytoplasm > Cytosol.
