Target intelligence / Profile preview

HBS1 like translational GTPase (HBS1L)

Target
HBS1L
Molecular classification
Enzyme, GTPase, Translation elongation factor family, RNA quality control factor
01

Overview

HBS1 like translational GTPase is a protein encoded by the HBS1L gene in humans and acts as a GTPase component of the Pelota-HBS1L complex, which is essential for recognizing stalled ribosomes and initiating the No-Go Decay (NGD) pathway for ribosome rescue and RNA quality control[1][4]. It is also a member of the GTP-binding elongation factor family involved in protein synthesis regulation, with its highest expression in heart and skeletal muscle[1]. The intergenic region between HBS1L and MYB genes acts as a quantitative trait locus affecting fetal hemoglobin levels, erythrocyte and platelet production, and is implicated in the severity and clinical course of hemoglobinopathies such as sickle cell disease and beta-thalassemia[1][3]. Polymorphisms in the HBS1L region are associated with these hematologic traits and disease phenotypes.

Other names
HBS1LHbs1-like proteinHBS1-like translational GTPaseHBS1HBS1 homolog
02

Biological functions

Protein synthesis regulationRibosome rescueRNA quality controlNo-go decayRegulation of erythrocyte productionRegulation of fetal hemoglobin levels
03

Disease associations

Hemoglobinopathies (such as sickle cell disease, beta-thalassemia)Erythrocyte disordersPlatelet disorders
04

Biomarkers

Fetal hemoglobin levelErythrocyte countPlatelet countMonocyte count

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