TBL3
Description
The TBL3 (transducin beta like 3) is a protein-coding gene located on chromosome 16.
TBL3 (Transducin beta-like protein 3) is a human protein encoded by the TBL3 gene. It belongs to the WD40 repeat-containing protein family, known for their regulatory functions. WD40 repeats mediate protein-protein interactions, and members of this family participate in various cellular processes, including signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly, and potentially cytotypic differentiation. TBL3 has multiple polyadenylation sites and may have multiple alternatively spliced transcript variants, though these variants are not fully characterized.
TBL3, also known as WD repeat-containing protein SAZD, plays a critical role in the assembly of the small subunit (SSU) processome, the initial precursor of the small eukaryotic ribosomal subunit. Within the nucleolus, TBL3 collaborates with various ribosome biogenesis factors, an RNA chaperone, and ribosomal proteins. Together, they facilitate essential processes in ribosome biogenesis, including RNA folding, modifications, rearrangements, and cleavage. Additionally, TBL3 participates in the targeted degradation of pre-ribosomal RNA by the RNA exosome.
TBL3 is also known as SAZD, UTP13.
Associated Diseases
- Huntington disease
- type 2 diabetes mellitus
- Mobius syndrome
- grade III meningioma
- childhood leukemia
- cancer
