TIA1 est un gène codé par le symbole TIA1. Il est également connu sous le nom de: Nucleolysin TIA-1 isoform p40; RNA-binding protein TIA-1; T-cell-restricted intracellular antigen-1; TIA-1; p40-TIA-1. TIA1 a une masse de 42.96kDa, une longueur d'acide aminé de 386, et est impliqué dans Welander distal myopathy.
Nous proposons 20 des anticorps contre TIA1, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Involved in alternative pre-RNA splicing and regulation of mRNA translation by binding to AU-rich elements (AREs) located in mRNA 3' untranslated regions (3' UTRs). Possesses nucleolytic activity against cytotoxic lymphocyte target cells. May be involved in apoptosis.
Résumé Entrez
The product encoded by this gene is a member of a RNA-binding protein family and possesses nucleolytic activity against cytotoxic lymphocyte (CTL) target cells. It has been suggested that this protein may be involved in the induction of apoptosis as it preferentially recognizes poly(A) homopolymers and induces DNA fragmentation in CTL targets. The major granule-associated species is a 15-kDa protein that is thought to be derived from the carboxyl terminus of the 40-kDa product by proteolytic processing. Alternative splicing resulting in different isoforms has been found for this gene.
Implication dans la maladie
Welander distal myopathy: An autosomal dominant disorder characterized by adult onset of distal muscle weakness predominantly affecting the distal long extensors of the hands, with slow progression to involve all small hand muscles and the lower legs. Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Rare homozygous patients showed earlier onset, faster progression, and proximal muscle involvement.
Localisation cellulaire
Cytoplasm > Stress granule. Nucleus.
Accumulates in cytoplasmic stress granules (SG) following cellular damage.
