HBS1L
Function
GTPase component of the Pelota-HBS1L complex, a complex that recognizes stalled ribosomes and triggers the No-Go Decay (NGD) pathway (PubMed:21448132, PubMed:23667253, PubMed:27863242). The Pelota-HBS1L complex recognizes ribosomes stalled at the 3' end of an mRNA and engages stalled ribosomes by destabilizing mRNA in the mRNA channel (PubMed:27863242). Following mRNA extraction from stalled ribosomes by the SKI complex, the Pelota-HBS1L complex promotes recruitment of ABCE1, which drives the disassembly of stalled ribosomes, followed by degradation of damaged mRNAs as part of the NGD pathway (PubMed:21448132, PubMed:32006463).
Involvement in disease
Defects in HBS1L have been found in one patient with a developmental disorder characterized by growth restriction, facial dysmorphism and developmental delay (PubMed:24288412, PubMed:30707697). Additional pleiotropic features include sparse hair and eyebrows, deep-set eyes with blue sclerae, bifid uvula with a submucous cleft palate, velopharyngeal insufficiency, C2-C3 vertebral fusion, scoliosis, vesicoureteral reflux with a bladder diverticulum and significant hypotonia (PubMed:24288412, PubMed:30707697). Deficiency is caused by the complete absence of isoform 1 and isoform 3, while isoform 2 is relatively unaffected in this patient (PubMed:30707697).
Sequence Similarities
Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family.
Tissue Specificity
Detected in heart, brain, placenta, liver, muscle, kidney and pancreas.
Cellular localization
- Cytoplasm
- Isoform 2
- Cytoplasm
Alternative names
HBS1, KIAA1038, HBS1L, HBS1-like protein, ERFS