HBS1L Gene: Role in Translational GTPase Activity and Erythropoiesis
Comprehensive genetic, expression, and clinical insights into HBS1L, a translational GTPase implicated in hematological traits and disease.
Gene Information Card
| Symbol | HBS1L |
|---|---|
| Full Name | HBS1-like translational GTPase |
| Gene Type | Protein coding |
| Chromosomal Location | 6q23.3 |
| NCBI Gene ID | 10747 ncbi.nlm.nih.gov/gene/10747 |
| Ensembl ID | ENSG00000112339 |
| UniProt ID | Q9Y450 |
| OMIM ID | 612450 |
| HGNC ID | 4831 |
| Aliases | EF-1a-like protein, HBS1, HSPC276 |
Description
HBS1L encodes a protein that shares sequence similarity with GTP-binding elongation factors, particularly EF-1alpha. It is involved in translational GTPase activity and plays a role in regulating erythropoiesis. The HBS1L-MYB intergenic region is a well-known quantitative trait locus influencing fetal hemoglobin levels and red blood cell traits. HBS1L is also implicated in cellular stress responses and has been studied in the context of cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Beta-thalassemia | Polymorphisms in the HBS1L-MYB intergenic region modulate HbF levels, ameliorating disease severity. | ClinVar, OMIM |
| Sickle cell disease | HBS1L variants influence HbF levels, affecting clinical outcomes. | ClinVar, OMIM |
| Hereditary persistence of fetal hemoglobin (HPFH) | Genetic variants in HBS1L-MYB region are associated with elevated HbF. | OMIM |
| Myeloproliferative neoplasms | Altered HBS1L expression may affect hematopoiesis, but direct evidence is limited. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 12.3 | Medium |
| Spleen | 8.7 | Low |
| Liver | 5.2 | Low |
| Whole Blood | 4.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.6 | High expression; used in erythropoiesis studies |
| HEK293 | 8.9 | Moderate expression |
| HeLa | 6.4 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs66650371 | SNV | 5% (global) | Located in HBS1L-MYB intergenic region; associated with HbF levels |
| rs9399137 | SNV | 10% (Asian) | Affects HBS1L expression; linked to erythroid traits |
| c.1234A>G (p.Thr412Ala) | Missense | Rare | Potential functional impact on GTPase activity; clinical significance uncertain |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in HBS1L are rare and may impair translational GTPase activity, potentially affecting protein synthesis and erythropoiesis. However, no definitive pathogenic loss-of-function variants have been characterized in human disease.
Gain of Function (GOF)
No gain-of-function mutations have been reported for HBS1L.
Dominant Negative (DN)
No dominant-negative mutations have been described for HBS1L.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • Translation elongation factor activity | • Ribosome binding |
| • Cytoplasm | • Cytosol |
Pathways
• Translation (GTP-dependent)
• Erythropoiesis regulation
• Cellular response to stress
Protein Summary
The HBS1L protein is a GTPase that shares structural similarity with EF-1alpha. It is involved in translational GTPase activity, likely participating in ribosome-dependent processes. HBS1L is expressed in various tissues, with higher levels in bone marrow and spleen, consistent with its role in hematopoiesis. It interacts with other proteins to regulate translation and may play a role in cellular stress responses. The protein is localized in the cytoplasm and cytosol.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HBS1L Knockout HEK293 Cell Line | EDJ-KQ51006 | Human | 10767 | Details Get a Quote |
| HBS1L Knockout HeLa Cell Line | EDJ-KQ55480 | Human | 10767 | Details Get a Quote |
| HBS1L Knockout A-549 Cell Line | EDJ-KQ63970 | Human | 10767 | Details Get a Quote |
| HBS1L Knockout HCT 116 Cell Line | EDJ-KQ72423 | Human | 10767 | Details Get a Quote |
