TIAL1
Description
The TIAL1 (TIA1 cytotoxic granule associated RNA binding protein like 1) is a protein-coding gene located on chromosome 10.
The TIAL1 gene encodes a protein, nucleolysin TIAR, which is a member of the RNA-binding protein family. It contains three RNA recognition motifs (RRMs) and binds adenine and uridine-rich elements in mRNA and pre-mRNAs of a wide range of genes. TIAL1 regulates various cellular processes, including translational control, splicing, and apoptosis. It exists in different isoforms, generated through alternative splicing, with distinct functions in post-transcriptional silencing.
TIAL1 is an RNA-binding protein that plays a role in alternative pre-mRNA splicing and the formation of cytoplasmic stress granules. It exhibits a preference for uridine-rich RNAs. TIAL1 activates splicing of alternative exons with weak 5' splice sites followed by a U-rich stretch on its own pre-mRNA and on TIA1 mRNA. It promotes the inclusion of TIA1 exon 5, leading to the long isoform (isoform a) of TIA1. TIAL1 acts downstream of the stress-induced phosphorylation of EIF2S1/EIF2A to promote the recruitment of untranslated mRNAs to cytoplasmic stress granules (SG). TIAL1 possesses nucleolytic activity against cytotoxic lymphocyte target cells and may be involved in apoptosis.
TIAL1 is also known as TCBP, TIAR.
Associated Diseases
- partial chromosome Y deletion
- ring chromosome Y
- 46,XY complete gonadal dysgenesis
- Perrault syndrome
- spinocerebellar ataxia type 32
- isochromosomy Yp
- spermatogenic failure 25
- spermatogenic failures 50
- 46,XX testicular disorder of sex development
