HBA1 - hemoglobin subunit alpha 1 Gene
Also Known as HBH; ECYT7; HBA-T3; METHBA
Species: Homo sapiens
About HBA1
This gene has 4 transcripts (splice variants), 235 orthologues, 11 paralogues and is associated with 10 phenotypes.
Summary
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]
HBA1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000558.5 | NP_000549.1 | hemoglobin subunit alpha |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables G protein-coupled receptor binding |
IDA
IDA: Inferred from direct assay
|
18077343 | GOA |
| contributes to haptoglobin binding |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| contributes to peroxidase activity |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
1552945 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in hydrogen peroxide catabolic process |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| involved in nitric oxide transport |
IDA
IDA: Inferred from direct assay
|
8292032 | GOA |
| involved in oxygen transport |
IDA
IDA: Inferred from direct assay
|
11159543 | GOA |
| involved in oxygen transport |
IMP
IMP: Inferred from mutant phenotype
|
7518430 | GOA |
| involved in response to hydrogen peroxide |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
21805676 | GOA |
| part of haptoglobin-hemoglobin complex |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| part of hemoglobin complex |
IDA
IDA: Inferred from direct assay
|
19740759 | GOA |
| part of hemoglobin complex |
IPI
IPI: Inferred from physical interaction
|
881729 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
hemoglobin subunit alpha |
|
HBA1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
HBA1 | P69905 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
HBA1 | P69905 | KRT40 | Homo sapiens | Q6A162 | 25416956 | |
|
Intra
|
HBA1 | P69905 | CYB5R3 | Homo sapiens | P00387 | 23123858 | |
|
Intra
|
HBA1 | P69905 | CYB5R3 | Homo sapiens | P00387 | 23123858 | |
|
Intra
|
HBA1 | P69905 | KRT34 | Homo sapiens | O76011 | 32296183 | |
|
Intra
|
HBA1 | P69905 | KRT34 | Homo sapiens | O76011 | 32296183 | |
|
Intra
|
HBA1 | P69905 | NOS3 | Homo sapiens | P29474 | 23123858 | |
|
Intra
|
HBA1 | P69905 | NOS3 | Homo sapiens | P29474 | 23123858 | |
|
Intra
|
HBA1 | P69905 | NOTCH2NLC | Homo sapiens | P0DPK4 | 32296183 | |
|
Intra
|
HBA1 | P69905 | NOTCH2NLC | Homo sapiens | P0DPK4 | 32296183 | |
|
Intra
|
HBA1 | P69905 | CCDC57 | Homo sapiens | Q2TAC2 | 25416956 | |
|
Intra
|
HBA1 | P69905 | CCDC57 | Homo sapiens | Q2TAC2 | 25416956 | |
|
Intra
|
HBA1 | P69905 | HBG2 | Homo sapiens | P69892 | 881729 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 28665412 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 29997244 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 11724557 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 16169070 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 9441940 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 9894000 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 15835899 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 30833564 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 1552945 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 10390349 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 10930828 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 29997244 | |
|
Intra
|
HBA1 | P69905 | HBB | Homo sapiens | P68871 | 6683087 | |
|
Intra
|
HBA1 | P69905 | AHSP | Homo sapiens | Q9NZD4 | 25156257 | |
|
Intra
|
HBA1 | P69905 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
HBA1 | P69905 | KRT31 | Homo sapiens | Q15323 | 32296183 | |
|
Intra
|
HBA1 | P69905 | KRT31 | Homo sapiens | Q15323 | 32296183 |
Recombinant HBA1 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P70397 | Hemoglobin subunit alpha/HBA1 Protein, Human (His) | P69905 (M1-R142) | ≥ 95%, as determined by reducing SDS-PAGE. |
HBA1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81428 | Hemoglobin subunit alpha Antibody (YA1173) | IHC-P | Human |
| HY-P81428A | Hemoglobin subunit alpha Antibody (YA1173)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hemoglobin H Disease |
|
|
| Alpha-Thalassemia |
|
|
| Erythrocytosis, Familial, 7 |
|
|
| Methemoglobinemia, Alpha Type |
|
|
| Heinz Body Anemias |
|
|
| Deficiency Anemia |
|
|
| Splenomegaly |
|
|
| Autosomal Dominant Secondary Polycythemia |
|
|
| Methemoglobinemia, Beta-Globin Type |
|
|
| Hydrops Fetalis, Nonimmune |
|
|
| Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
|
|
| Thalassemia |
|
|
| Hemoglobinopathy |
|
|
| Glutathione Peroxidase Deficiency |
|
|
| Hemolytic Anemia |
|
|
| Immune Hydrops Fetalis |
|
|
| Type 1 Diabetes Mellitus 24 |
|
|
| Beta-Thalassemia |
|
|
| Syphilis |
|
|
| Polycythemia |
|
|
| Hypoglycemic Coma |
|
|
| Erythrocytosis, Familial, 6 |
|
|
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
|
| Erythrocytosis, Familial, 8 |
|
|
| Thalassemia Minor |
|
|
| Type 1 Diabetes Mellitus 7 |
|
|
| Thrombotic Thrombocytopenic Purpura |
|
|
| Erythrocytosis, Familial, 1 |
|
|
| Febrile Seizures, Familial, 6 |
|
|
| Malaria |
|
|
| Congenital Hemolytic Anemia |
|
|
| Immature Cataract |
|
|
| Autoimmune Disease Of Endocrine System |
|
|
| Beta-Thalassemia Major |
|
|
| Hypochromic Microcytic Anemia |
|
|
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
|
| Sickle Cell Anemia |
|
|
| Diabetes Mellitus |
|
|
| Hemochromatosis, Type 1 |
|
|
| Type 2 Diabetes Mellitus |
|
|