HBS1 like translational GTPase

HBS1 like translational GTPase (also known as HBS1L) is a protein that in humans is encoded by the HBS1L gene. This protein is a member of the GTP-binding elongation factor family. It is significantly expressed in most tissues, with the highest expression in heart, skeletal muscle, and testis.

Function

The HBS1L protein is a GTPase that plays a crucial role in the protein synthesis process. It is involved in the termination and post-termination stages of eukaryotic translation, facilitating ribosomal release from the mRNA. HBS1L is also implicated in the regulation of nonsense-mediated mRNA decay (NMD), a surveillance pathway that detects and degrades mRNAs containing premature termination codons.

Clinical significance

Mutations in the HBS1L gene have been associated with various medical conditions. For instance, polymorphisms in this gene are linked to changes in fetal hemoglobin levels, which can influence the severity of sickle cell disease and beta-thalassemia. Additionally, HBS1L gene mutations have been identified in patients with myeloid leukemia.

Research

Research into the HBS1L gene and its protein product is ongoing, with studies focusing on its role in protein synthesis, its involvement in disease, and its potential as a therapeutic target.

See also

• GTPase
• Protein synthesis
• Nonsense-mediated mRNA decay
• Sickle cell disease
• Beta-thalassemia
• Myeloid leukemia

External links

• HBS1L gene on the US National Library of Medicine website
• HBS1L protein on the Universal Protein Resource (UniProt) website

Further reading

• "The role of HBS1L in protein synthesis and disease"
• "HBS1L: a new player in mRNA decay"
• "HBS1L in health and disease: a review"