TBPL1

TBPL1 (TATA-box binding protein-like 1) is a protein that in humans is encoded by the TBPL1 gene. It is a member of the TATA-binding protein (TBP) family and plays a crucial role in transcription by RNA polymerase.

Function

TBPL1 is a transcription factor that is involved in the regulation of gene expression. It binds to the TATA box in the promoter region of genes and assists in the assembly of the transcription preinitiation complex. This complex is necessary for the transcription of genes by RNA polymerase.

Structure

The TBPL1 protein is composed of approximately 400 amino acids. It has a highly conserved carboxy-terminal domain that is responsible for its binding to the TATA box. The amino-terminal domain of TBPL1 is less conserved and is thought to interact with other proteins in the transcription preinitiation complex.

Clinical significance

Mutations in the TBPL1 gene have been associated with several diseases. For example, a mutation in this gene has been linked to Spermatogenic failure, a condition characterized by a reduced number of sperm or the absence of sperm in the semen.

Research

Research is ongoing to better understand the role of TBPL1 in gene regulation and disease. This includes studies to identify other proteins that interact with TBPL1 and to determine the effects of TBPL1 gene mutations on protein function.

See also

• TATA box
• Transcription (genetics)
• Gene expression
• Spermatogenic failure