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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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HBS1L
HBS1 like translational GTPase
Chromosome 6 · 6q23.3
NCBI Gene: 10767Ensembl: ENSG00000112339.15HGNC: HGNC:4834UniProt: B7Z524
137PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
rescue of stalled cytosolic ribosomecytosolic ribosomeDom34-Hbs1 complexprotein bindingHypercholesterolemiadeficiency anemiaanemia (phenotype)metabolic disease
✦AI Summary

HBS1L (HBS1 like translational GTPase) is a GTPase component of the Pelota-HBS1L complex that serves as a critical ribosomal rescue factor in mRNA quality control 1. The complex recognizes ribosomes stalled at the 3' end of mRNAs and triggers the No-Go Decay (NGD) pathway by destabilizing mRNA in the ribosomal decoding center 1. Following mRNA extraction by the SKI complex, Pelota-HBS1L recruits ABCE1 to drive stalled ribosome disassembly and subsequent degradation of damaged mRNAs 2. HBS1L functions as SKI7, coupling the cytoplasmic exosome to ribosome-bound SKI2 helicase, forming an exosome-ribosome supercomplex that enables coordinated mRNA decay during translation 2. Clinically, HBS1L variants have significant disease relevance. Mutations causing HBS1L deficiency result in congenital anomalies, severe growth restriction, developmental delay, and retinal pigmentary deposits, associated with Pelota depletion and abnormal 80S monosome accumulation 3. In sickle cell disease, HBS1L-MYB genetic variants are major modifiers of fetal hemoglobin levels and disease severity 456. Additionally, the PELO-HBS1L complex represents a novel synthetic lethal therapeutic target in cancers with SKI complex destabilization, including 9p21.3-deleted and microsatellite-instability-high tumors 7.

Sources cited
1
HBS1L is a GTPase that works with Pelota in the ribosome rescue complex, recognizing stalled ribosomes through interactions with the ribosomal decoding center
PMID: 27863242
2
HBS1L (SKI7) bridges the SKI2 helicase to the exosome complex, forming a supercomplex that enables coordinated mRNA decay from stalled ribosomes
PMID: 39385025
3
HBS1L mutations cause congenital anomalies, growth restriction, developmental delay, retinal deposits, and result in Pelota depletion and 80S monosome accumulation
PMID: 30707697
4
HBS1L-MYB variants are significantly associated with fetal hemoglobin levels, a major modifier of sickle cell disease severity
PMID: 37851445
5
HBS1L-MYB loci are known fetal hemoglobin-modulating loci in sickle cell disease across African ancestries
PMID: 40025045
6
HBS1L-MYB genotypes are associated with thalidomide efficacy in transfusion-dependent β-thalassemia patients
PMID: 34795208
7
PELO-HBS1L complex represents a novel synthetic lethal therapeutic target in cancers with SKI complex destabilization
PMID: 39910291
Disease Associationsⓘ20
HypercholesterolemiaOpen Targets
0.42Moderate
deficiency anemiaOpen Targets
0.41Moderate
anemia (phenotype)Open Targets
0.39Weak
metabolic diseaseOpen Targets
0.39Weak
thrombocytopenia 4Open Targets
0.36Weak
polycythemiaOpen Targets
0.36Weak
benign prostatic hyperplasiaOpen Targets
0.36Weak
hematologic diseaseOpen Targets
0.36Weak
hemorrhagic diseaseOpen Targets
0.35Weak
hyperlipidemiaOpen Targets
0.35Weak
ThrombocytopeniaOpen Targets
0.33Weak
contact dermatitisOpen Targets
0.33Weak
ankylosing spondylitisOpen Targets
0.30Weak
hypothyroidismOpen Targets
0.29Weak
heart diseaseOpen Targets
0.29Weak
response to statinOpen Targets
0.28Weak
psoriasisOpen Targets
0.28Weak
myxedemaOpen Targets
0.28Weak
clonal hematopoiesisOpen Targets
0.27Weak
Hodgkins lymphomaOpen Targets
0.26Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EXOSC1Protein interaction100%DIS3Protein interaction100%EXOSC10Protein interaction100%EXOSC3Protein interaction100%EXOSC2Protein interaction100%EXOSC7Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
93%
Heart
58%
Liver
37%
Ovary
26%
Lung
25%
Gene Interaction Network
Click a node to explore
HBS1LEXOSC1DIS3EXOSC10EXOSC3EXOSC2EXOSC7
PROTEIN STRUCTURE
Preparing viewer…
PDB9G8M · 3.30 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.79LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.56 [0.41–0.79]
RankingsWhere HBS1L stands among ~20K protein-coding genes
  • #3,378of 20,598
    Most Researched137 · top quartile
  • #6,483of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedHBS1L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Synthetic lethality of mRNA quality control complexes in cancer.
PMID: 39910291
Nature · 2025
1.00
2
Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.
PMID: 37851445
JAMA Netw Open · 2023
0.90
3
Decoding Mammalian Ribosome-mRNA States by Translational GTPase Complexes.
PMID: 27863242
Cell · 2016
0.80
4
The ASC-1 Complex Disassembles Collided Ribosomes.
PMID: 32579943
Mol Cell · 2020
0.70
5
Structural basis of mRNA decay by the human exosome-ribosome supercomplex.
PMID: 39385025
Nature · 2024
0.60