HBQ1 Gene - Hemoglobin Subunit Theta 1
A globin gene with limited expression and unclear physiological role.
Gene Information Card
| Symbol | HBQ1 |
|---|---|
| Full Name | Hemoglobin Subunit Theta 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 3049 ncbi.nlm.nih.gov/gene/3049 |
| Ensembl ID | ENSG00000206177 |
| UniProt ID | P09105 |
| OMIM ID | 142240 |
| HGNC ID | 4835 |
| Aliases | HBQ, THETA1 |
Description
HBQ1 encodes the theta-1 globin chain, a member of the alpha-globin family. The gene is located on chromosome 16 within the alpha-globin cluster. Its expression is very low in normal adult tissues and its physiological function remains poorly understood. It is considered a pseudogene-like expressed sequence in some databases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-thalassemia | Deletions in the alpha-globin cluster may include HBQ1, but its specific contribution to disease is unclear. | ClinVar, OMIM |
| Hemoglobinopathy | Rare variants in HBQ1 have been reported but no established pathogenic mechanism. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 0.1 | Not detected |
| Blood | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.0 | No detectable expression |
| HEK293 | 0.0 | No detectable expression |
| HepG2 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown |
| c.2T>C | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No established loss-of-function variants.
Gain of Function (GOF)
No established gain-of-function variants.
Dominant Negative (DN)
No established dominant-negative variants.
View complete mutation data：
Gene Ontology (GO)
| • oxygen transport | • heme binding |
| • iron ion binding |
Pathways
• Erythrocyte differentiation
• Oxygen transport
Protein Summary
The theta-1 globin protein is predicted to be 141 amino acids long and belongs to the globin family. It is not known to form functional hemoglobin tetramers in vivo. Its expression is negligible in adult erythroid cells, and its biological role remains enigmatic.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HBQ1 Knockout HEK293 Cell Line | EDJ-KQ4848 | Human | 3049 | Details Get a Quote |
| HBQ1 Knockout A-549 Cell Line | EDJ-KQ27629 | Human | 3049 | Details Get a Quote |
| HBQ1 Knockout HeLa Cell Line | EDJ-KQ53500 | Human | 3049 | Details Get a Quote |
| HBQ1 Knockout HCT 116 Cell Line | EDJ-KQ70451 | Human | 3049 | Details Get a Quote |
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