HBG1 Gene Summary [Human]
The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains together with two alpha chains constitute fetal hemoglobin (HbF) which is normally replaced by adult hemoglobin (HbA) at birth. In some beta-thalassemias and related conditions, gamma chain production continues into adulthood. The two types of gamma chains differ at residue 136 where glycine is found in the G-gamma product (HBG2) and alanine is found in the A-gamma product (HBG1). The former is predominant at birth. The order of the genes in the beta-globin cluster is: 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | HBG1 |
| Official Name | hemoglobin subunit gamma 1 [Source:HGNC Symbol;Acc:HGNC:4831] |
| Ensembl ID | ENSG00000213934 |
| Bio databases IDs | |
| Aliases | hemoglobin subunit gamma 1 |
| Synonyms | A gamma globin, A γ globin, Glnb3, haemoglobin, epsilon 2, haemoglobin, gamma A, haemoglobin subunit gamma 1, haemoglobin subunit γ 1, haemoglobin, γ A, haemoglobin, ε 2, Hbe2, HBGA, HBGR, HBG-T2, hemoglobin, epsilon 2, hemoglobin, gamma A, hemoglobin subunit gamma 1, hemoglobin subunit γ 1, hemoglobin, γ A, hemoglobin, ε 2, HSGGL1, PRO2979, γ A 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 HBG1 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
- Globin-like protein superfamily
Pathways
Biological processes and signaling networks where the HBG1 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
- osteoporosis
- preeclampsia
- hereditary persistence of fetal hemoglobin Sardinian type
- hereditary persistence of fetal hemoglobin
- papillary thyroid carcinoma
- papillary thyroid cancer
- hereditary persistence of fetal hemoglobin British type
- severe acute respiratory syndrome
- nonobstructive azoospermia
- hereditary persistence of fetal hemoglobin Greek variant
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
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HBG1 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
- haptoglobin-hemoglobin complex
- cytosol
Molecular Function
What the gene product does at the molecular level
- peroxidase activity
- oxygen binding
- metal ion binding
- organic acid binding
- hemoglobin alpha binding
- oxygen transporter activity
- heme binding
- haptoglobin binding