HBA1 Gene Summary [Human]
The human alpha globin gene cluster located on chromosome 16 spans about 30 kb and includes seven loci: 5'- zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 - alpha-1 - theta - 3'. The alpha-2 (HBA2) and alpha-1 (HBA1) coding sequences are identical. These genes differ slightly over the 5' untranslated regions and the introns, but they differ significantly over the 3' untranslated regions. Two alpha chains plus two beta chains constitute HbA, which in normal adult life comprises about 97% of the total hemoglobin; alpha chains combine with delta chains to constitute HbA-2, which with HbF (fetal hemoglobin) makes up the remaining 3% of adult hemoglobin. Alpha thalassemias result from deletions of each of the alpha genes as well as deletions of both HBA2 and HBA1; some nondeletion alpha thalassemias have also been reported. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HBA1 |
| Official Name | hemoglobin subunit alpha 1 [Source:HGNC Symbol;Acc:HGNC:4823] |
| Ensembl ID | ENSG00000206172 |
| Bio databases IDs | |
| Aliases | hemoglobin subunit alpha 1 |
| Synonyms | ECYT7, haemoglobin subunit alpha 1, haemoglobin subunit α 1, haemoglobin, α 1, HBA-T3, HBH, hemoglobin subunit alpha 1, hemoglobin subunit α 1, hemoglobin, α 1, METHBA |
| Species | Human, Homo sapiens |
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 HBA1 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
- peroxidase
- Globin-like protein superfamily
- G-protein-coupled receptor binding
- enzyme
- protein binding
Pathways
Biological processes and signaling networks where the HBA1 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
- infection
- hepatocellular carcinoma
- epithelial cancer
- nondeletional hemoglobin H disease
- acute infection
- proliferative diabetic retinopathy
- Alzheimer disease
- alpha thalassemia
- colorectal cancer
- acute myeloid leukemia
regulates
- Ca2+
- ERK1/2
- nitric oxide
- reactive oxygen species
- superoxide
- hydrogen peroxide
- oxygen
role in cell
- proliferation
- cell viability
- apoptosis
- production in
- phosphorylation in
- outgrowth
- generation in
- outgrowth in
- G2/M phase
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- organelle lumens
- cytosol
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HBA1 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
- nitric oxide transport
- response to hydrogen peroxide
- hydrogen peroxide catabolic process
Cellular Component
Where in the cell the gene product is active
- hemoglobin complex
- extracellular space
- extracellular vesicular exosome
- endocytic vesicle lumen
- blood microparticle
- membrane
- haptoglobin-hemoglobin complex
- cytosol
- extracellular region
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