HBZ Gene Summary [Human]
Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]
Details
| Type | Protein Coding |
| Official Symbol | HBZ |
| Official Name | hemoglobin subunit zeta [Source:HGNC Symbol;Acc:HGNC:4835] |
| Ensembl ID | ENSG00000130656 |
| Bio databases IDs | |
| Aliases | hemoglobin subunit zeta |
| Synonyms | Glne1, haemoglobin subunit zeta, haemoglobin subunit ζ, haemoglobin X, alpha-like embryonic chain in Hba complex, haemoglobin X, α-like embryonic chain in Hba complex, Hba-x, HBAZ, HBZ1, HBZ-T1, hemoglobin subunit zeta, hemoglobin subunit ζ, hemoglobin X, alpha-like embryonic chain in Hba complex, hemoglobin X, α-like embryonic chain in Hba complex, RGD1307486, ζ Globin |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HBZ often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Globin
- oxygen transporter
- Globin-like protein superfamily
- protein binding
- transporter
Pathways
Biological processes and signaling networks where the HBZ gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- growth failure
- anisocytosis
- thrombocytosis
- anemia
- idiopathic inflammatory myopathy
- early missed abortion
- poikilocytosis
regulates
- oxygen
- DNA promoter
- DNA endogenous promoter
- DKK1
- hemoglobin
- RNA polymerase II
- bilirubin
role in cell
- survival
- quantity
- mean corpuscular volume
- abnormal morphology
- deformation
- maturation
- presence
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HBZ gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oxygen transport
- carbon dioxide transport
- hydrogen peroxide catabolic process
Cellular Component
Where in the cell the gene product is active
- hemoglobin complex
- extracellular vesicular exosome
- haptoglobin-hemoglobin complex
Molecular Function
What the gene product does at the molecular level
- oxygen binding
- peroxidase activity
- protein binding
- iron ion binding
- organic acid binding
- oxygen transporter activity
- haptoglobin binding
- heme binding