HBE1: Hemoglobin Subunit Epsilon 1
Embryonic Hemoglobin Epsilon Globin Chain
Gene Information Card
| Symbol | HBE1 |
|---|---|
| Full Name | Hemoglobin Subunit Epsilon 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.4 |
| NCBI Gene ID | 3046 ncbi.nlm.nih.gov/gene/3046 |
| Ensembl ID | ENSG00000213931 |
| UniProt ID | P02100 |
| OMIM ID | 142100 |
| HGNC ID | 4830 |
| Aliases | epsilon-globin, HBE |
Description
HBE1 encodes the epsilon globin chain, a component of embryonic hemoglobin (Hb Gower-2 and Hb Portland). It is expressed during early embryonic development (yolk sac) and is part of the beta-globin cluster on chromosome 11. The epsilon chain pairs with alpha-like globins to form functional hemoglobin tetramers that facilitate oxygen transport in the embryo. After the first trimester, HBE1 expression is silenced and replaced by fetal (HBG1/HBG2) and adult (HBB) globin genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alpha-thalassemia (associated with deletions involving HBE1) | Deletion of the beta-globin cluster including HBE1 leads to reduced embryonic hemoglobin synthesis, contributing to hydrops fetalis in severe cases. | ClinVar, OMIM |
| Hemoglobin H disease (rare epsilon chain variants) | Point mutations in HBE1 can produce unstable epsilon globin, causing mild hemolytic anemia in neonates. | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Yolk sac (embryonic) | High | Embryonic-specific expression |
| Bone marrow (adult) | 0.0 | Not expressed |
| Liver (fetal) | Low | Transient expression in early fetal liver |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (erythroleukemia) | 12.5 | Embryonic globin expression model |
| HEL (erythroleukemia) | 8.3 | Low epsilon expression |
| HUDEP-2 (erythroid progenitor) | 0.0 | Adult-like globin expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Loss of start codon, reduced epsilon globin synthesis |
| c.79G>A (p.Glu27Lys) | Missense | Rare | Unstable hemoglobin variant, mild hemolysis |
| c.364C>T (p.Arg122Ter) | Nonsense | Rare | Premature truncation, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg122Ter) cause complete loss of epsilon globin function, leading to reduced embryonic hemoglobin.
Gain of Function (GOF)
No gain-of-function mutations reported in HBE1.
Dominant Negative (DN)
Missense mutations (e.g., p.Glu27Lys) may produce unstable globin chains that precipitate and cause dominant hemolytic anemia in neonates.
View complete mutation data：
Gene Ontology (GO)
| • oxygen carrier activity (GO:0005344) | • heme binding (GO:0020037) |
| • hemoglobin complex (GO:0005833) | • oxygen transport (GO:0015671) |
| • hydrogen peroxide catabolic process (GO:0042744) |
Pathways
• ['WP:WP2446'
• 'Erythropoiesis and globin switching']
• ['Reactome:R-HSA-1237044'
• 'Erythrocytes take up oxygen and release carbon dioxide']
• ['KEGG:hsa04630'
• 'Jak-STAT signaling pathway (indirect)']
Protein Summary
The epsilon globin protein (141 amino acids) is a member of the globin superfamily. It contains a heme-binding pocket and forms a heterotetramer with alpha-like globins (zeta or alpha) to create embryonic hemoglobins (Hb Gower-2: α2ε2; Hb Portland: ζ2ε2). The protein is essential for oxygen delivery during the first trimester. Its expression is tightly regulated by developmental stage-specific transcription factors (e.g., GATA1, KLF1) and chromatin looping within the beta-globin locus control region.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HBE1 Knockout HEK293 Cell Line | EDJ-KQ4847 | Human | 3046 | Details Get a Quote |
| HBE1 Knockout A-549 Cell Line | EDJ-KQ27627 | Human | 3046 | Details Get a Quote |
| HBE1 Knockout HCT 116 Cell Line | EDJ-KQ27628 | Human | 3046 | Details Get a Quote |
| HBE1 Knockout HeLa Cell Line | EDJ-KQ53497 | Human | 3046 | Details Get a Quote |
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