HBS1L
Description
The HBS1L (HBS1 like translational GTPase) is a protein-coding gene located on chromosome 6.
The HBS1L gene encodes a protein involved in translation regulation. This protein belongs to the GTP-binding elongation factor family and is highly expressed in heart and skeletal muscle. Variations in this gene have been linked to fetal hemoglobin levels, erythrocyte, platelet, and monocyte counts, as well as erythrocyte volume and hemoglobin content. These variations are also associated with pain crises in sickle cell disease and severity in beta-thalassemia/Hemoglobin E.
HBS1L, also known as ERFS, is a GTPase that plays a crucial role in the No-Go Decay (NGD) pathway, a cellular mechanism for degrading faulty or incompletely translated messenger RNAs (mRNAs). It forms a complex with another protein called Pelota, and this Pelota-HBS1L complex recognizes ribosomes that have become stalled during translation, typically at the 3' end of an mRNA. By destabilizing the mRNA within the ribosome's mRNA channel, the complex dislodges the stalled mRNA. The SKI complex then extracts the mRNA from the stalled ribosome, allowing the Pelota-HBS1L complex to recruit ABCE1. ABCE1 facilitates the disassembly of the stalled ribosome, paving the way for the degradation of the damaged mRNA as part of the NGD pathway.
HBS1L is also known as EF-1a, ERFS, HBS1, HSPC276, eRF3c.
